Younis

NAME:  Younis  AGE:  14 yrs. old
COUNTRY:  Syria
LGMD SUB-TYPE:  LGMD 2C

At what age were you diagnosed:

I was diagnosed at age 7.

What were your first symptoms:

The symptoms began to appear when I was 5 years old.  As a young child, I walked on my toes.

Do you have other family members who have LGMD:

Yes, my older brother and two of my uncles (my mother’s brothers) also have been diagnosed with LGMD2C.  (My oldest brother has immigrated to Germany.)

What do you find to be the greatest challenges in living with LGMD:

For me, right now the greatest challenges are running, climbing stairs and getting to the bathroom independently.

What is your greatest accomplishment:

I do not know what is my greatest achievement would be but I am proud that I can still walk and am still fairly independent.  Although, one of the most difficult challenges that I have had to overcome in life was to complete my studies despite the “circumstances of war and displacement” in Syria.

HOW HAS LGMD INFLUENCED YOU INTO BECOMING THE PERSON YOU ARE TODAY:

LGMD has taught me to be patient.  It has also taught made me more aware and open.

WHAT DO YOU WANT THE WORLD TO KNOW ABOUT LGMD:

I want the world to know more about this disease and all of the different types of LGMD.  Plus, I want people to know that more research focused on LGMD is vital to help find a cure and treatment for these diseases. I hope that scientists will find a cure for this disease.  I also want people to take steps to prevent it.

IF YOUR LGMD COULD BE “CURED” TOMORROW, WHAT WOULD BE THE FIRST THING THAT YOU WOULD WANT TO DO:

If LGMD was cured tomorrow, the first thing I would do is run fast and then play football with my friends.

 

* * * To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at http://lgmd-info.org/spotlight-interviews 

* * * Please LIKE, COMMENT and SHARE this post to help raise awareness of LGMD!




Jill

LGMD Spotlight Interview

Name:    Jill              Age: 33 yrs. old

Country:    United States

LGMD Sub-Type:    LGMD2i

 

At what age were you diagnosed:

I was diagnosed at the age of 27.

What were your first symptoms:

In elementary school, I was always the last child to cross the finish line in gym. I also remember having to sit out of school activities due to painful leg cramps. However, I was on the dance team and had a super normal childhood. After the birth of my first child in 2008, at age 23, I started presenting to the ER off and on with fatigue and pain. I remember telling my husband, “There’s something wrong with me and someday I will figure out what it is.” After the birth of my second daughter in 2010, I struggled with the physicality of having a toddler and a newborn. I was no longer able to climb a flight of stairs without great effort. I still thought “maybe this is just what tired moms feel like.” Then in 2011, I went into rhabdomyolysis after catching a virus and spiking a fever. I went to the doctor with severe weakness and my CPK was 11,000. That finally led us down the right path and a diagnosis of LGMD2I was uncovered. Like many of you, it was a long road to diagnosis.

Do you have other family members who have LGMD:

No, I am homozygous recessive, so both of my parents were carriers. Thankfully, my brother and sister are unaffected.

What do you find to be the greatest challenges in living with LGMD:

My girls were babies when I was diagnosed. A year later my husband was diagnosed with brain cancer. I feared that I wouldn’t be able to care for my family. I spent many hours worrying about what was going to happen to us. I try to stay in the moment and enjoy the good times. It can be challenging to keep my “head in the game” and not anticipate my decline or let frustration and pain put me to bed. However, I am here, today. My husband is here, today. My kids are amazing and resilient. So, I remain thankful and we carry on.

What is your greatest accomplishment:

My greatest personal accomplishment is my happiness. I’ve worked really hard to be happy, despite our challenges. I’m really proud of that.  It’s a choice that I try to make every day.

How has LGMD influenced you into becoming the person you are today:

I do feel that I am living a more meaningful life after diagnosis. I love my people more intensely. I’ve learned to slow down, because I have to, and that isn’t a bad way to do life. I’m also thankful for the opportunity to understand and have empathy for those with chronic disease, pain, grief… all of those invisible diseases that can so easily be misinterpreted as laziness or lack of effort. I see you and I am sorry it is hard.

What do you want the world to know about LGMD:

I want the world to know that LGMD is a genetically inherited disease and not one of “nutritional deficiency” or a result of not going to the gym. This isn’t a disease that people choose. It is progressive and there is no cure. Although staying positive and remaining active will help, it will not stop the progression. In my mind, the best thing to say to someone with LGMD is, “I know it’s hard and you are doing such a good job.” It would be so wonderful to find a treatment or a cure in the future. It’s good to remain hopeful.

If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do:

Give my girls piggyback rides to school, throw a huge party, and go on a family bike ride around our favorite lake.

 

 

* * * To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at http://lgmd-info.org/spotlight-interviews 

* * * Please LIKE, COMMENT and SHARE this post to help raise awareness of LGMD!




Deceena

LGMD “Spotlight Interview”

Name:  Deceena   Age: 31 yrs. old

Country: USA

LGMD Sub-Type:   LGMD2A – also known as Calpainopathy

 

At what age were you diagnosed:

I was diagnosed at the age of 29.

What were your first symptoms:

Muscle weakness in my legs was my very first symptom. I was unable to go up stairs like a normal person, starting in 2008 following the birth of my second child. Doctors chalked it up to just having had a baby and gave me the advice to go exercise. I was only 22 and I knew there was something more going on. I only wish my doctors would have taken me more serious. I went to numerous doctors and specialists, all who said I was “fine”. I ended up finding a holistic based physician who uttered the words “Oh my goodness, why has nobody helped you?” He sent me to PT, and on my last day my PT asked me is anyone in my family had Muscular Dystrophy? (No). He mentioned to me there are forms which are recessive, and he suggested my doctor start finding appropriate testing and referrals for MD. This was the first person to ever mention the words “Muscular Dystrophy” to me, ever. I then found an amazing group on Facebook that allowed me to post videos of myself. Shortly after this, I was led to genetic research with the Jain Foundation, and was able to see Dr. Jerry Mendel which ended in a definitive diagnosis of LGMD2A. The process from my new provider, to genetic testing, to diagnosis was about 3 MONTHS after many YEARS of being told I was “fine” and to exercise. I received my diagnosis on my youngest daughters 1st birthday. A day I will always remember….

Do you have other family members who have LGMD:

No one else in my family has LGMD.

What do you find to be the greatest challenges in living with LGMD:

Currently, my greatest challenge is explaining to my children that I am unable to do certain activities, or run and play with them, or even list them up; and explaining why. It is very difficult sometimes to answer their questions. The second greatest challenge is having people make rude comments about how I should save the handicap parking for those with handicaps. I may look like a “normal” person, however, I DO have difficulty walking long distances and I can no longer go up stairs or a curb without the assistance of my husband.

What is your greatest accomplishment:

I would say that my greatest accomplishment would be learning love and compassion for all. I never realized the emotional challenges those with a disability are faced with. Most would think it’s just physical, but it’s not. I have found a partner who chose to stand beside me and still marry me 9 days later. We had a very frank and difficult (for me) conversation about if we should continue on knowing the difficulties physically, emotionally, mentally we would be facing this awful disease. He could have walked away, knowing I had a progressive neurological disease, but he loves unconditionally and has taught me the true meaning of unconditional love and acceptance. He has taught me to love deeper and always, in every situation-even situations which we think are terrible. We have built a beautiful family which is my greatest accomplishment. I hope we can continue to lead by example with love and compassion, for our children to see and hopefully live. This world would be such a better place is people treated people like people, and not like their disability.

How has LGMD influenced you into becoming the person you are today:

Having LGMD has taught me how to advocate and speak up. I have had to advocate for myself for many years, telling physicians they were WRONG. Who does that?? This girl right here! This has inspired me to now become the voice for others. I advocate wholeheartedly for those who are unable to, or those who may need some assistance. I look at having a disability as a gift. I am given opportunities that help define and shape the beliefs I have today. I will always speak up, even when it is uncomfortable and when nobody else wants to. I will always question my physicians, and I won’t stop. Having LGMD has turned me into this fierce person with the drive and determination I have today.

What do you want the world to know about LGMD:

I don’t even know where I would start on this question. Mainly, those with LGMD are NO different than anyone without it. I still breathe and I still have feelings. I still love the same, and I still hurt the same. I want to be happy and have the same opportunities as those without MD. I am no different, except maybe a little more aware of how people treat people.

If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do:

The absolute first thing I would do would be running to my children, then wrestling with them on the floor, and jumping up with them and tossing them in the air. I miss this more than I can express in words. I was able to do this with my older children who are almost 12 and 9, but haven’t been able to do it with the younger two who are 6 and almost 3. After that, I would jump into my husband’s arms and just stay there for a moment. Then I would need to go for a run, a long run. Running was my activity of choice, which I haven’t been able to do for many years.

 

* * * To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at: http://lgmd-info.org/spotlight-interviews 

* * * Please LIKE, COMMENT and SHARE this post to help raise awareness of LGMD!
 




Fred

LGMD “SPOTLIGHT INTERVIEW”

Name:  Fred   Age: 36 yrs. old

Country: United States

LGMD Sub-Type:  LGMD2A  / Calpainopathy

 

At what age were you diagnosed:

I was diagnosed at the age of 13.

What were your first symptoms:

Looking back I was always slightly slower than the other kids but I can’t say there was one symptom which my parents or I noticed.  I was diagnosed on a fluke. I had gone skiing with a church group and ultimately broke my leg.  When I went to the hospital emergency room for my broken leg, a Dr noticed that I was not as strong as I should have been at that age.  That resulted in a muscle biopsy.  Initially, I was diagnosed with Becker’s MD, this was all pre-DNA testing.

Do you have other family members who have LGMD:

No, I’m the only one.

What do you find to be the greatest challenges in living with LGMD:

The greatest challenge for me is not being able to hold my 7-month old without assistance. Constantly having to advocate for me as it pertains to this condition.  I never noticed how many people have “ableist” attitudes. The last for me would be not being able to freely visit friends and family.

What is your greatest accomplishment:

I have so many accomplishments, but if I could only choose one I’d say working my way off of SSI. After my diagnosis, I had given up hope of ever having a job, a car, a home, a family of my own etc. Today, I am a state police dispatcher, I drive, I have a beautiful family, I’m currently looking to purchase my first home, and I’m optimistic that when the time comes and I no longer can physically do the job I have that God will provide another opportunity.

How has LGMD influenced you into becoming the person you are today:

LGMD has taught me how to fight for what I want.  It’s taught me that I’m never as limited as I may think.  Anything is possible.

What do you want the world to know about LGMD:

That LGMD has not been cured yet but, with their help, it can be.

If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do:

Pick my little boy up, give him a tight hug, toss him up in the air and catch him.

 

* * * To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at http://lgmd-info.org/spotlight-interviews




Vicki

LGMD “SPOTLIGHT INTERVIEW”

Name:  Vicki   Age: 44 yrs. old

Country:  Canada

LGMD Sub-Type:  LGMD2A / Calpainopathy

 

At what age were you diagnosed

I was diagnosed at the age of 22.

What were your first symptoms:

I was having difficulty climbing stairs.  The Doctor told me that the tendons in my ankles were short, he then sent me to a neurologist for a second opinion to see if there was an underlying condition as to way they were short.  My neurologist sent me to have a muscle biopsy in Montreal.

Do you have other family members who have LGMD: 

No, I am the only person with LGMD in my family.

What do you find to be the greatest challenges in living with LGMD

There are many challenges; to stay independent alone in my home, and to stay active in my community and with friends.  It is challenging when planning to go somewhere new.  I have to ensure it is accessible for a wheelchair and I have to ask about the washroom facilities.  It is also challenging to stay positive- when you can’t perform an ordinary task, go somewhere you want to go, or just see others moving so easily in public. 

What is your greatest accomplishment:

My family is my first great accomplishment- My husband, Dean, and our son, Tyler.  They make my life worth living; they make me feel like I can do anything.  I am very blessed.  I also take great pride in my MD fundraising.  In the past, I have organized a yearly auction, online FB auctions, yard sales, raffles, etc.  My latest idea has been making and selling felt ornaments.  I started making them January 2016.  I design a pattern, cut it out on felt, hand sew them together then market them on Facebook. They have their own FB page: “Vicki’s Handmade Ornaments for MD”.  My husband and I have donated all the supplies to make them, I have even gotten business cards.  ALL proceeds from the sale of the ornaments go to MD Canada every year in June for our Walk for Muscular Dystrophy.  Since starting I have sold ~$4000 worth of ornaments.  My fundraising goal for the walk for MD has been $6000 for the past many years.  I always find a way to exceed my goal.

My husband and I started a healthy eating regime back in March.  We have both gotten lighter, and healthier because of it.  I was able to stop taking the 3 medications I was taking for inflammation, pain and high blood pressure.  We feel great and I love to spread the word about it!

How has LGMD influenced you into becoming the person you are today: 

I am learning more and more about myself every day.  My challenges and past experiences have made me learn so many things about myself.  I have learned to love myself for who I am and not for what I can or cannot do.  I have become a strong, self-confident person.  I have realized that I am who I am and the wheelchair does not define me!  I also belong to a local disability group.  We go into middle schools every Spring and talk about living with a disability, and how you can help people with disabilities.  My public speaking has come a long way because of this. 

What do you want the world to know about LGMD

It is rare but it is also a common disability.  Some of us liked to be offered a helping hand, some like to do it themselves however difficult it may be.  Everyone is different.  Ask before helping someone and never be turned off by someone with a negative attitude or personality.  I always smile because I know what I have in my life and LGMD cannot take my smile away from me!

If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do

There are probably many things that I would do: travel, swim, run, go shopping on my own, work, exercise, visit my friends’ houses with stairs, get in and out of the bathtub, clean the house, I am sure I could come up with a long list…  A lot of these things I can do now, but in a modified way.  It would be nice to do these things without thinking, in a more carefree way.

 

* * * To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at http://lgmd-info.org/spotlight-interviews

 




Kourtney

LGMD “SPOTLIGHT INTERVIEW”

Name:  Kourtney                Age: 23 yrs. old

Country: USA

LGMD Sub-Type:    LGMD2B /  Miyoshi Myopathy

At what age were you diagnosed:

I was diagnosed at the age of 14.

What were your first symptoms:

The very first symptom I noticed was that my calf muscles began to swell up uncontrollably after a huge dance performance. I couldn’t see my ankles after a while and we started to worry. The doctor told us to measure my calves’ daily and to keep a log. They kept getting bigger and bigger. The doctors thought it could be because of a blood clot, so they did lots of ultrasounds on my legs, heart, and stomach to see if there was anything wrong. They couldn’t find anything wrong. I then got my blood tested and they saw my CK levels were high, so they decided to do a muscle biopsy, and that’s how they diagnosed me.

Do you have other family members who have LGMD:

Yes. My older sister, Stephanie Garrett, has the same type as me. She was diagnosed just a few months before I was. She seems to have more problems in her arms (2B) and I seem to have more problems with my legs (MM).

What do you find to be the greatest challenges in living with LGMD:

I think the greatest challenge living with MD is coping with the idea that you can’t do something that you used to be able to do. There are a lot of things that are hard to do physically, such as dance, climb, walk, etc. that I used to be able to do just fine. The hard part is being okay with it. I think MD is more emotionally challenging than physically challenging. But, you just have to stay positive and think of all the amazing things that you still can do.

What is your greatest accomplishment:

This is a hard question because I feel like I have accomplished a lot in my life. I graduated high school, then college, I have two jobs that I absolutely love, I got married to my high school sweetheart, but most importantly, I became a mom. I have always looked forward to becoming a mom ever since I was little. Once I was diagnosed with LGMD, I didn’t know if it was possible or not. As I got older and my body started getting weaker, I questioned things. I have had so many fears about what harm I could possibly put on my family because of my physical situation. But, my friends and family have been nothing but supportive, loving, and helpful.  My greatest accomplishment is my baby girl. I have found so many ways to make things work so that she is happy, healthy, and safe. I know that the future is going to be hard with kids, but it will be more than worth it.

How has LGMD influenced you into becoming the person you are today:

Even though LGMD has definitely made me weaker physically, it has more importantly made me stronger emotionally and spiritually. I would never wish anybody to have this disease, however, I do think that it has been a blessing in my life. I am grateful that I have it, that I can teach others about it, and that I can be an influence and example to others.

What do you want the world to know about LGMD:

I want the world to know that we are normal people, that we have feelings, and that there are things you should be careful about doing or saying. Please don’t stare, please don’t tell me I walk funny, please don’t laugh if I fall, and please don’t judge me based on the things I can and can’t do. Please don’t make handicap jokes. Please don’t assume I can do something. Instead, please help me, lift me up, and encourage me. Please make me feel loved and important. And please love me the same as if I was physically fine.

If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do:

If I could be cured tomorrow, the first thing that I would do is dance. Dancing was my heart, my soul, and my passion, and I miss it more than anything.

 

* * * To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at: http://lgmd-info.org/spotlight-interviews




Becky

LGMD “Spotlight Interview”  

Name: Becky   Age:  35 yrs. old

Country: USA

LGMD Sub-Type: LGMD2B

 

AT WHAT AGE WERE YOU DIAGNOSED:

I was diagnosed in 2009 at the age of 27.

WHAT WERE YOUR FIRST SYMPTOMS:

My first symptoms were difficulty walking up steps, getting up from the ground or getting up from a seat/toilet.

DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD:

No other family members have LGMD.

WHAT DO YOU FIND TO BE THE GREATEST CHALLENGES IN LIVING WITH LGMD:

The biggest challenge for me is the mental part of understanding my limitations. Knowing that my life is not the way I had ever imagined it would be. Knowing the things my husband and I had to change in order to cope and deal with this continuously progressing disease.

WHAT IS YOUR GREATEST ACCOMPLISHMENT:

I think my greatest accomplishment after being diagnosed with this disease is my marriage. We got married 2 months before I started having all of the tests to determine what was wrong. In sickness and in health came a lot sooner than we could have ever imagined, but we are stronger today because of it.

HOW HAS LGMD INFLUENCED YOU INTO BECOMING THE PERSON YOU ARE TODAY:

This disease is life-changing. Despite how dependent I am on my family and friends I am still fairly independent. I drive with hand controls, I am resourceful in the ways that I find to keep doing things for myself, and in a way, even though my muscles are weaker, I am stronger. This didn’t happen all at once. It took time to realize that I am a strong person even though my muscles are weak.

WHAT DO YOU WANT THE WORLD TO KNOW ABOUT LGMD:

I want the world to know and understand that this disease is so challenging. Sometimes my brain doesn’t remember that I can’t do something and I will just start to do it only to realize I can’t. I want them to know that from the moment someone with LGMD wakes up they have to immediately think about how they are going to tackle the day. The world should know that this disease, while somewhat invisible, is real and is extremely difficult to deal with. That just because someone is out and about with this disease does not mean that they are OK or cured. We still have to live our lives, even if behind our smile we are exhausted or hurting. The world should also know that THERE WILL BE A CURE. There are so many people working on this and the strides made in just the few short years I’ve been diagnosed have been huge.

IF YOUR LGMD COULD BE “CURED” TOMORROW, WHAT WOULD BE THE FIRST THING THAT YOU WOULD WANT TO DO:

This list is LONG….but first I would run. My legs haven’t moved that way in such a long time.

 

* * * To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at: http://lgmd-info.org/spotlight-interviews




Lori

LGMD “SPOTLIGHT INTERVIEW”

 

Name:  Lori  Age: 47 yrs. old

Country: United States

LGMD Sub-Type: LGMD2i

At what age were you diagnosed:

I was diagnosed at the age of 41.

What were your first symptoms:

The first symptoms that I noticed were muscle weakness and falling although at the time I didn’t realize that they were anything serious.

Do you have other family members who have LGMD:

Yes, my younger sister also has LGMD2i.

What do you find to be the greatest challenges in living with LGMD:

My greatest challenge is lacking the energy and physical strength to do everything I used to do and everything I want to do.

What is your greatest accomplishment:

My greatest accomplishments are raising my two sons (ages 17 and 24) and becoming an attorney.

How has LGMD influenced you into becoming the person you are today:

Having LGMD causes me to be more grateful for what I can do and for the people in my life.

What do you want the world to know about LGMD:

I would like people to know that LGMD is a genetic disease for which there is no treatment or cure at this time.

If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do:

If I was cured tomorrow, I would like to go hiking or for a long walk.

 

* * * To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at: http://lgmd-info.org/spotlight-interviews

 




Hillary

LGMD “SPOTLIGHT INTERVIEW”

NAME:  Hillary   AGE:  32 yrs. old

COUNTRY:  USA

LGMD Sub-Type:  LGMD2A / Calpainopathy

 

At what age were you diagnosed:

I was diagnosed at the age of 13.

What were your first symptoms:

My first symptom were Tight Achilles tendons, high arches, and a slow runner. I started running just like my older brother, who was diagnosed with LGMD2A at the same time I was.

Do you have other family members who have LGMD:

Yes, my older brother (5 years older) also has LGMD2A.

What do you find to be the greatest challenges in living with LGMD:

The hardest thing about LGMD2A is that it is constantly changing. Over the past 20 years, I have figured out creative ways to accomplish daily tasks. Tasks as easy as going to the restroom independently have needed to be adjusted and recreated many times. At one point I would use my forearms, forehead, and grab bars to literally climb up the wall from a seated position on the toilet. Because the disease is constantly changing, my workarounds and “solutions” only work for a few years and then I am back to the drawing board to figure out something new.

What is your greatest accomplishment:

My family is my greatest accomplishment. I got married at age 23 when I was still a very able-bodied individual. In the span of 9 short years, I am now a full-time wheelchair user. My husband and I have had the privilege to adopt two beautiful children. My husband and two kids are my everything. Life isn’t always easy, but with these 3 by my side (or on my lap) I am reminded how beautiful life really is. When I was first diagnosed I always worried how I would chase after my kids or save them from running into the street. I never pictured myself in a wheelchair chasing them! Did you know that wheelchairs can cruise up to 7 miles per hour?! Turns out I had nothing to worry about. I am able to work part-time from home and balance my responsibilities as a wife and mother.

How has LGMD influenced you into becoming the person you are today:

When I was 13 yrs. old I was playing basketball, volleyball, and softball. Sports were my everything. As one can imagine, the diagnosis was a total shock and I was in denial for a while. During tryouts for the JV volleyball team, I was completely shocked that my coaches didn’t think I could keep up. They decided to let me play, but at the end of the season, I had accepted the fact that I wasn’t as fast as my teammates. This came at quite the emotional blow. Luckily, with the influence of my parents and friends, I decided to try new things and I ran for student government and was an editor on the yearbook staff. Keeping busy helped and I found new things that I loved. The experiences and opportunities I had helped me get a scholarship for college and lead to more leadership opportunities on my college campus. Additionally, I have had the opportunity to work in the hotel industry for the past 14 years and now have a position that allows me to work from home. Staying busy has always been one of the best remedies for my mental health, and to be honest I don’t remember a time I wasn’t busy!

What do you want the world to know about LGMD:

Raising awareness for rare diseases is never an easy task. When you see the firefighters out Filling the Boot, or see the Shamrocks out in local businesses, please keep donating. That money helps further research and it helps send kids to MDA camp. I have hope that the research being performed today will change lives.

If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do:

The first thing I would do is chase after my kids, throw them up in the air, and play until I was dizzy!

 

* * * To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at  http://lgmd-info.org/spotlight-interviews

 




Monkol

LGMD “SPOTLIGHT INTERVIEW”

Name:  Monkol  AGE: 38

Country: United States

LGMD Sub-Type: LGMD2G (also known as Telethoninopathy)

 

At what age were you diagnosed:

I received an official genetic diagnosis at 33, where they identified frameshift mutation in TCAP. I have since created the LGMD2G Foundation to find more LGMD2G patients and help them on their journey.

http://www.lgmd2g.org/

What were your first symptoms:

I started really taking notice when I was 19. I was having a difficult time standing up for long periods on public transport and going up stairs. I would be really sore and exhausted at the end of a long day of traveling to University, which took nearly 3 hours total each day.

Do you have other family members who have LGMD:

Yes, my second oldest sister. There are 7 siblings in our family, the two affected is roughly the 25% expected to be affected by a recessive disease. Guess my sister and I got a shitty roll of the dice!

What do you find to be the greatest challenges in living with LGMD:

At this stage of my life, it would be maintaining friendships. It’s easy for me to make friends but I can’t maintain them as I can’t go to bars all night, I can’t hike, ride a bike and do other physical things and lastly, it’s difficult for me to go from A to B unassisted. All my social outings have to be very well planned to the detail and sometimes takes the fun out of things. People realize I’m too much of a bother and just don’t invite me to things anymore and it hurts to be left out. It hurts my wife even more as she isn’t handicap and she gets lumped in with me.

What is your greatest accomplishment:

Starting my own research lab at Yale School of Medicine as an Assistant Professor of Genetics.  http://www.leklab.org/

Lek Lab

It has been a long and difficult 13-year journey but I got there! One of the aims of the lab is to improve the diagnosis rate of people with muscular dystrophy, particularly limb girdle muscular dystrophy. I’m really looking forward to working with LGMD patients directly that are still looking for answers as I also know how it’s like to go on a decade-long diagnostic odyssey and the frustration of here we go again on each clinical visit!

How has LGMD influenced you into becoming the person you are today:

It’s given me purpose and a desire to live for others and not just for myself. I don’t think I would have achieved as much in my life, if I didn’t have the struggles of LGMD and being driven by the hope that one day, no one should need to struggle with this disease again. I want to be part of that effort and be there that day this becomes true!

 

What do you want the world to know about LGMD:

People with LGMD are beaten down every day both physically and mentally. We get beaten down each day by our family and friends that don’t understand why we can’t smile and get on with life when are muscles are aching and we are denied one more thing we can’t do in life. We get beaten down by the workforce, who expects us to compete with our peers on an unfair playing field, where equal opportunity is lip service so privileged people can feel good about themselves. We get beaten down by the general public, who can’t quite empathize exactly how its like to struggle but think they do. Lastly, we get beaten down by ourselves as we don’t have enough self-belief that we can give a lot back to society instead of the burden people make us to be!

 

If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do:

The younger and immature me would have said run and run a lot! I’m a lot older and wiser now – what I would do is all the house chores, grocery shopping and all the boring things I haven’t been able to do, for the rest of my life as a huge thank you and show of gratitude to my wife who has stuck by me all those years.

 

* * * * * To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at http://lgmd-info.org/spotlight-interviews

 




Karen

LGMD “Spotlight Interview”

Name:  Karen  Age: 54 Yrs. old

Country: USA

LGMD Sub-Type:  LGMD 2I

 

At what age were you diagnosed?

I was diagnosed at the age of 33.

What were your first SYMPTOMS?

My first symptom was an overall weakness compared to other kids in gym class in grade school.  High School gym class was even worse.  I experienced tight hamstring and calf muscles.  My calves were large. Next was the noticeable change in my gait.

Do you have other family members who have LGMD?

No, I am the only family member diagnosed with LGMD.

What do you find to be the greatest challenges in living with LGMD:

The greatest challenges of living with LGMD are completing daily personal and household tasks, managing activity and rest, being prepared to access public spaces, and planning for future needs.

What is your greatest accomplishment:

With the love and support of my family and friends, I embrace and experience life in spite of ever changing limitations and obstacles.  That is my greatest accomplishment.

How has LGMD influenced you into becoming the person you are TODAY?

Living with LGMD has formed me into an accepting, determined, resourceful, humble, and grateful person. I learned to accept my diagnosis and realize that, as it progresses, it provides me with the opportunity to grow as a person.

What do you want the world to know about LGMD?

LGMD is a progressive disease.  It affects every thought that goes into every motion of every day.  Continued research and development for a cure, treatment, and assistive devices are essential.

If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do:

If I was cured tomorrow, I would Rollerblade!

 

* * * * * To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at: http://lgmd-info.org/spotlight-interviews




Felix

LGMD “SPOTLIGHT INTERVIEW”

Name:  Felix  Age:  35 yrs. old

Country:  Brazil

LGMD Sub-Type: LGMD2A / Calpainopathy

 

At what age were you diagnosed:

I was diagnosed at the age of 11.

What were your first symptoms:

My first symptoms included: falls, tiredness, walking on my tip toes.  Plus, I could not keep up with other people my age in physical activities.

Do you have other family members who have LGMD:

Yes, I have a sister with LGMD2A

What do you find to be the greatest challenges in living with LGMD:

The biggest challenge was having to adapt to the changes of my body, developing forms of defense against probable falls, tactics when going up and down stairs, care not to tread lightly on some obstacles, and always seeking a chair for support – especially when getting up from a chair and the floor.   I am always trying to be careful of anything that could bring me down.

What is your greatest accomplishment:

I learned to play the guitar!  This was a great challenge because the difficulty was enormous – especially when holding the instrument and making the movement with my arms to play the strings of the guitar.  This can be very tiring but still, I can do it.

How has LGMD influenced you into becoming the person you are today:

Life with LGMD has taught me and teaches me today to fight and to give more value to life.  Surviving in such a difficult world takes a lot of effort and it makes me a better person especially when dealing with others.  There are situations in which we live that only those who share in the same struggle actually know and understand.  There is a purpose of God in all the lives of this world.  I think LGMD may have given me a feeling in life, the biggest challenge I could have.  We are opponents, and like every good fight, I intend to fight to the end – winning, of course!

What do you want the world to know about LGMD:

The world needs to know about LGMD, as the people are living with this disease.  It is important to be aware of how to help the cause.  Knowing that does not make us better or worse than other people who have physical limitations.  And hopefully, in the near future, the world will know the greatest of all news – – that there is a cure for this disease!

 

If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do:

If I was cured tomorrow, I would glorify the name of God. I would do things like play football as well as climb stairs and sit and stand up without help from anyone.  It is these simple day to day activities that most people do not really give much attention but are dreams to those of us in wheelchairs.  A cure will be an epic victory, one that will be read in history books.

 

* * * * * To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at http://lgmd-info.org/spotlight-interviews




Asher

LGMD “ Spotlight Interview”

Name:  Asher  Age:  10 yrs. old

Country:  New Zealand

LGMD Sub-Type: Unknown

*** (Asher’s mum Chloe assisted with the interview ***

 

At what age were you diagnosed:

Asher was diagnosed when he was 5 years old.

What were your first symptoms:

He was slow to crawl, stand and walk. I noticed he struggled in comparison to his peers to use the playground equipment and run races as a preschooler and when he first started at school.

Do you have other family members who have LGMD:

Asher is the first person, we assume he has a recessive form of LGMD.

What do you find to be the greatest challenges in living with LGMD:

Asher says “My greatest challenge is that I can’t keep up with my friends and I get very tired. “

Asher’s Mum says “the hardest thing for me is the uncertainty of the future and worrying that I am not making the right decisions for his health and well-being. I wish we had a complete diagnosis including subtype so I had a bit more understanding of what to expect going forward”

What is your greatest accomplishment:

Asher says “Hmmm, I’m not sure. That’s deep. I have done a lot of things. I guess my greatest accomplishment is when I won an award at the National Junior Disability Games for most promising Waka Ama Athlete. That was really good”

 

How has LGMD influenced you into becoming the person you are today:

Asher says: “Well, I have a really cool power chair and that makes me pretty cool. My seat is more comfortable than most people’s seats are – so that is pretty cool. Plus I get to do really fun stuff like disability games and adapted sport. So yeah Muscular Dystrophy is good like that”

Asher’s Mum says: “having a child with a disability has changed a lot about our lives and what we had expected. It’s made me more understanding and empathetic of other parents’ challenges. I know what it feels like to be overwhelmed. I have signed up to be a support parent for others through an organization called parent to parent and I feel really good about that.  I like the idea that we are stronger together.”

 

What do you want the world to know about LGMD:

Asher says “I want the world to know that it is hard and people who have it feel really tired.”

Asher’s Mum says “I’d like people to know that it is progressive so what people can do today they may not be able to do in the future. I think it changes the way we live our lives because we try to make the most out of every day and every experience.”

If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do:

Asher says “I would run the cross country at school and not come last.”

Asher’s Mum says “the first thing we would do as a family is go to a theme park and do every ride. Then we would have a bubble dance party til late and not worry about anyone being too tired”

 

To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at http://lgmd-info.org/spotlight-interviews




Ben

LGMD “SPOTLIGHT INTERVIEW”

 

Name:  Ben  Age:  23 yrs. old

Country: Hong Kong

LGMD Sub-Type: LGMD2A / Calpainopathy

 

At what age were you diagnosed:

I was diagnosed at the age of 21.

What were your first symptoms:

I developed bilateral heel cord contractures which caused toe-walking.

Do you have other family members who have LGMD:

My brother displays similar symptoms but he has not been officially diagnosed yet.

What do you find to be the greatest challenges in living with LGMD:

Right now, the greatest challenges for me include difficulty in climbing stairs and walking long distances.

What is your greatest accomplishment:

Not allowing this disease to affect my studies.

How has LGMD influenced you into becoming the person you are today:

Having LGMD has made me stronger, with a strong will and perseverance.

What do you want the world to know about LGMD:

I want the world to know that LGMD can affect people at any age – children, teens, young adults and adults.  It is important that more people need to know about LGMD.

If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do:

If my LGMD could be cured tomorrow, the first thing that I would want to do is to engage in some sporting activities as LGMD currently restricts me from participating.

 

****  To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at: http://lgmd-info.org/spotlight-interviews




Nicole

Name: Nicole   AGE: 37

COUNTRY: United States

LGMD Sub-Type: LGMD 2J (Titinopathy)

 

At what age were you diagnosed:

I was diagnosed at the age of 24.

What were your first symptoms:

Growing up, I was never very athletic and always thought that I was just klutzy. I attempted to play sports in elementary and middle school but I always felt as though I was too uncoordinated to join any kind of organized sports team. Everything appeared to be “normal” until high school when I started falling UP the stairs – I started walking on my toes sometime in my early teen years which contributed to falling up the steps. While I wanted to believe I was just an extreme klutz, there was always something in the back of my mind telling me that I was not “normal”. In 2003, I had the grand idea that I wanted to start running to get in shape. I didn’t make it a quarter of a block before I was on fall #3 in a matter of minutes. At that point, I began to listen to the little voice inside that knew something wasn’t right – it was time to talk to a doctor.

Do you have other family members who have LGMD:

My brother Paul also has LGMD 2J.

What do you find to be the greatest challenges in living with LGMD:

The most difficult factor about living with LGMD is that my mind and my body are simply not in sync. My mind says, “Go!” and my body screams, “What are you thinking, you can’t do that.” In my mind, I’m able to climb stairs, wear a killer pair of heels, gracefully walk down the sidewalk, carry groceries, and run a marathon. But my body disagrees – I avoid stairs at all costs, I have to wear flat shoes. Simply walking down the sidewalk without someone next to me causes an unexplainable sense of anxiety – carrying a load of groceries into my house feels like I’m trying to move a mountain with my own two hands. And running a marathon would be as difficult as trying to house-train an elephant. My mind says I am fully capable but my body refuses to respond accordingly. There is also a tremendous amount of fear that accompanies an invitation somewhere that I have never been before – especially if I am going alone. When I’m invited to an event, have a meeting for work, or have to go somewhere that I have never been before, I find that Google Earth is my closest ally. I will Google Earth the layout of buildings. Where is the parking lot? How far do I have to walk to get to the front door? Is there a step or a slope at the entrance? Is there anything that could potentially prevent me from navigating the terrain? Although research is helpful, the fear that comes along with “new places” is only slightly diminished by these preemptive measures – the reality is that there may be an unanticipated obstacle on site once I arrive. For me, that’s when the true fear sets in. Even more-so than each of the challenges above, my biggest challenge is admitting that I need to ask for help. As the days, months, and years pass, I have realized that the simplest tasks – taking out the trash, changing a light bulb, going up/down stairs without a railing, stepping up onto a sidewalk without something to hold on to, getting out of a chair, even just walking across the room – have proven to become increasingly difficult.

I often wonder if it would be easier if my body worked and it was my mind that was uncooperative. It’s hard to ask for help when your mind tells you the task-at-hand is a common, everyday part of living.

I want to prove to myself that LGMD won’t win – that there is a way that I can outsmart this disease. When those moments arrive, I push myself way too far – I do things that I know will ultimately land me in bed and in pain for periods of time. For me, this disease is cyclical. The more I do, the more I hurt. The less I do, the more I beat myself up for not being fully capable – which leads to me pushing my body too far once again.

What is your greatest accomplishment:

On a physical and mental-strength level, my greatest accomplishment is completing a 5K Color Run in 2013. I may have said, “I can’t go any further,” more often than I said “I can do this.” I may have been the last person to cross the finish line – but I started and completed the race without cutting a single corner.

Personally, I’m extremely proud of my recent move. Having LGMD requires a lot of help from others – and as time goes on, this need will only escalate. While I accept this, I don’t allow it to define how I live my life. I recently picked up and moved by myself nearly 900 miles from everyone I know. I left my “muscle” behind, I packed everything up and I decided that I had to truly fly solo to discover just how able bodied I really am.

Professionally, I’ve been named a Top 100 Women in Maryland and Top 100 Minority Business Enterprise Owner. Maintaining my professional identity as my MD progresses has been a priority for me from Day 1, so I’m extremely proud of my work.  I was also honored to receive the MDA Courage Award in 2016.

How has LGMD influenced you into becoming the person you are today:

Having LGMD has greatly affected my compassion and empathy for others. I fully understand the meaning of not feeling well. I understand that hurting and being in pain on a constant basis can be draining. Although I lose my patience with myself on a regular basis, I believe that having LGMD has afforded me a patience with others that I didn’t have prior to being diagnosed.

With all of the challenges that come with this diagnosis, I work hard to maintain a sense of humor about my limitations. If I’m able to lighten the emotional and physical load on my family and friends (and admittedly, myself), I do my best to with statements like, “Today I feel like an octopus trying to get in a thimble,” instead of “I feel terrible today.”

LGMD has also cultivated an ability to approach situations with creativity. Granting little power to that small voice that whispers “I can’t,” I try to turn everything into “I may take an unconventional route but I CAN do this.” I may not get from Point A to Point B the same way that an able-bodied person can, but I’ll find a way to get things accomplished regardless of how outrageous my method is.

What do you want the world to know about LGMD:

I’m not “an inspiration”:  Just because I’m living each day with LGMD does not mean that I’m an inspiration to all people everywhere. Could I inspire someone living with LGMD to approach the diagnosis with humor and determination? Sure – but I’m not innately inspiring just because I have LGMD and continue to live my life. I am a woman that has LGMD and I am adjusting to my circumstances just like everyone who adjusts to life’s many challenges. Someone that breaks their arm has to learn how to do things differently for a short period of time. Similarly, I’m learning each day how to adjust … and readjust. The only difference between me and a person with a broken arm is that eventually their cast will come off and they will regain full functionality of their arm. LGMD is progressive so I will always be in a time of readjusting as things progress.

Don’t make assumptions about my (or anyone’s) abilities:  Reserve judgment when you see someone that appears “normal” when seated – you never know what challenges that person faces upon standing. When you see someone in a wheelchair or using an assistive device, please do not assume that we are hard of hearing, that we need to be coddled, or that we want any sort of sympathy or pity. This is our “normal” and while it is challenging, there is no need to treat those of us with MD any differently than you would anyone else.

Don’t assume I need (or want) help: Living with LGMD means that sometimes I will need to ask for help for seemingly simple tasks. That said, assuming that I need help is … well, insulting. Sure, I may not be able to do something as quickly or as gracefully as you desire. But that does not mean that I can’t do it. Let me try – if I need your help I’ll ask. It’s that simple. And if I want to push myself to try something that you don’t think I can handle, let me! So it doesn’t end well – so what. To me that’s not failure. It means I tried – and some days, that’s enough.

Don’t be afraid to ask questions:  Knowledge is power. Knowledge is understanding. Knowledge is compassion. Questions about MD are not offensive. It’s offensive to see you staring at me and knowing that you’re wondering what my everyday life is like. It’s offensive to assume you know what my life is like. I don’t expect you to understand my challenges. You don’t know – you’ve never lived with LGMD … how would you know? Ask me anything! Surrounding myself with people who are knowledgeable about MD makes my life a little bit easier – but you can’t know if you don’t ask.   Don’t look away and pity me – introduce yourself and ask whatever burning question you may have.

If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do:

Run. I would put on a pair of running shoes and I would run as fast and as far as my legs and lungs would allow. After that I would put on a pair of amazing heels and I would dance all night long. Dancing … I miss dancing the most!

 

To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at: http://lgmd-info.org/spotlight-interviews




Ralph

Name:  Ralph  Age: 24 yrs. old

Country: South Africa

LGMD Sub-Type: LGMD2B

 

At what age were you diagnosed:

I was diagnosed at the age of 23 – just after finishing my Rescue Diving Course.

What were your first symptoms:

I live a very active, adrenaline pumping lifestyle and after I noticed I was running slower and slower every day, I started training harder and harder as well.  But in the end my body just kept getting weaker and weaker.  After completing my diving I decided to get some help.

Do you have other family members who have LGMD:

No, I am the only one and my family took quite a hit when they heard my diagnosis.  Didn’t affect me really.  Just saw it as another challenge.  But after a while, reality really sank in…if you know what I mean.

What do you find to be the greatest challenges in living with LGMD:

Acceptance.  The fact that I can’t do all the activities that I used to do is quite a challenge.  Hard to give up skydiving, white water rafting, and off-roading because it took too much strain on my arms and legs.

What is your greatest accomplishment:

Living the life most people dream of and being an inspiration to everyone around me.  When you have the right mindset and a strong will there is nothing you can’t accomplish.

There’s a story that inspires me to live a full life.  Publius Horatius Cocles was an officer in the army of the ancient Roman Republic who famously defended the Pons Sublicius during the war between Rome and Clusium.  The poem goes:  Then out spoken brave Horatius, the Captain of the gate:  “To every man upon this earth.  Death cometh soon or late.  And how can man die better than facing fearful odds.”

How has LGMD influenced you into becoming the person you are today:

I always believed that I was unbreakable.  Since my diagnosis, I’ve realized that I am unstoppable.  There’s only life and death and by choosing life, my dreams are only a short breath away.  And I intend to close that gap.

What do you want the world to know about LGMD:

Never look down on people who suffer from any form of a disease.  The mindset you need to live with and overcome such an obstacle might just be too much for you to handle.

If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do:

I would start running and never stop until my legs break because for the moment…I’ll be free!

To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at: http://lgmd-info.org/spotlight-interviews




Amanda

LGMD SPOTLIGHT INTERVIEW

Name:      Amanda      Age: 34

Country:  Canada

LGMD Sub-Type:  LGMD2C 

 

AT WHAT AGE WERE YOU DIAGNOSED:

I was diagnosed at the age of 9.

WHAT WERE YOUR FIRST SYMPTOMS:

I walked on my toes, and often fell unexpectedly as a child – overtime my body started to feel heavy

DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD:  

No – just me!

WHAT DO YOU FIND TO BE THE GREATEST CHALLENGES IN LIVING WITH LGMD:

At various times in my life I have felt more like a spectator

Also, relying on other people

HOW HAS LGMD INFLUENCED YOU INTO BECOMING THE PERSON YOU ARE TODAY:

It has placed the emphasis on gratitude as well as the importance of perspective. Things don’t stop me, or impact me the same way it does others – I would attribute that to managing LGMD

WHAT DO YOU WANT THE WORLD TO KNOW ABOUT LGMD:

I want the world to know that LGMD impacts every facet of someone’s life.  Despite the fact that most people who are well adjusted and productive  make it look easy.

IF YOUR LGMD COULD BE “CURED” TOMORROW, WHAT WOULD BE THE FIRST THING THAT YOU WOULD WANT TO DO:

If LGMD was cured tomorrow, I would stand up and hug my family with both arms & cry tears of joy!

 

To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at: http://lgmd-info.org/spotlight-interviews

 




Jill

LGMD “Spotlight Interview”

NAME: Jill AGE: 42
COUNTRY: USA
LGMD Sub-Type: autosomal dominant Emery-Dreifuss muscular dystrophy (LMNA mutation/LGMD1B)

AT WHAT AGE WERE YOU DIAGNOSED:
I was diagnosed when I was 4 years old.

WHAT WERE YOUR FIRST SYMPTOMS:
I was slight at birth, and my aunts both recall thinking there was not enough fat and muscles on my bottom and legs. My early milestones were unremarkable; I was able to sit, crawl, walk, etc. at appropriate ages. As I entered pre-school, it was noted that I fell much more often than the other children, and I had difficulty keeping up with others. I remember having great difficulty remaining upright in a “bouncy house” at a carnival, and also I didn’t enjoy bumper cars because I had difficulty with neck weakness.

DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD:
My father and two brothers and one sister all have EDMD, but with a wide variety in severity. One sister is unaffected. It is suspected that my paternal grandmother and great-grandmother also inherited this disorder, but it was so mild they never knew this in their lifetime.

WHAT DO YOU FIND TO BE THE GREATEST CHALLENGES IN LIVING WITH LGMD:
I get frustrated because I want to do the things someone my age should be able to do without significant difficulty. For example, keeping up with housework is very challenging, and I don’t end up with the house looking the way I imagine it should after working hard.

WHAT IS YOUR GREATEST ACCOMPLISHMENT:
My greatest accomplishment was uncovering my own diagnosis as a teenager and informing my father’s cardiologist that our genetic disorder required implantation of a pacemaker. Perhaps this saved his life when he was only 44 years of age. It gave us the chance to love him for another 18 years.

HOW HAS LGMD INFLUENCED YOU INTO BECOMING THE PERSON YOU ARE TODAY:
It made me learn to rely on myself rather than looking to others to solve my problems. I learned quite early in life that if you have a very rare medical condition, you are going to have to become your own advocate. Also, having a muscle disease made me very dedicated to academic pursuits. I studied genetics as an undergraduate, and creative writing in graduate school. Without my achievements in higher education, I might struggle with uncovering my purpose in life.

WHAT DO YOU WANT THE WORLD TO KNOW ABOUT LGMD:
In terms of what I would want people to know about Emery-Dreifuss MD (EDMD), probably I would want people to know I’m just the same as any other person on the inside. I feel the same hurts, have the same dreams, and most of all, just want to be included in all there is to experience in life. I have been happily married for nearly 12 years, and I’ve raised a son to the age of 11, and most of all I would want people to understand that these life goals can be met by a person even if they are unable to walk.

IF YOUR LGMD COULD BE “CURED” TOMORROW, WHAT WOULD BE THE FIRST THING THAT YOU WOULD WANT TO DO:
I would want to advocate for EDMD to be included in the genetic testing offered to newborns. My greatest wish is that I don’t want a future generation to go through the difficulties I went through, and the best time to intervene is at birth.

To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at: http://lgmd-info.org/spotlight-interviews




Karin

LGMD SPOTLIGHT INTERVIEW

NAME:  Karin    AGE: 53
COUNTRY: United States
LGMD Sub Type: Unknown

AT WHAT AGE WERE YOU DIAGNOSED?

I had been having problems years before my diagnosis. It wasn’t until I hit 40 that my life began to change. Then at 53 years of age I got the diagnosis of having Muscular Dystrophy.

WHAT WERE YOUR FIRST SYMPTOMS?

First noticed I was fatigued way more than normal. Getting out of bed, turning myself over in bed, became a big chore. Weakness in my hips and legs, to where I began falling a lot. I had a lot of trouble getting up from a sitting position and climbing stairs. My breathing was like I finished sprints while carrying in a conversation! Those were the first noticeable symptoms. Every day it seems something new pops up.

DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD?

One of my biological brothers in Germany had been presenting similar signs and symptoms of LGMD. He passed before a diagnosis of his current medical problem. I was adopted and if I knew what I know today, I would have tried harder to find out more about my families medical history!

WHAT DO YOU FIND TO BE THE GREATEST CHALLENGES IN LIVING WITH LGMD?

Getting out of bed! Lol
Learning how to maneuver my wheelchair, and reaching for items in the home. Public restrooms are the most challenging. The handicap stall is usually occupied by an individual who is not disabled so it is difficult to hold it in while they are in there doing their hair and nails.  Lol

WHAT IS YOUR GREATEST ACCOMPLISHMENT?

Finally getting a diagnosis! After years of ER visits and seeing doctors, not labeled as a “hypochondriac” anymore. Clearly, when you go from walking, to a cane, then to a walker,  then into a wheelchair, something is definitely going on. I’m thankful my doctors finally saw what was going on.

HOW HAS LGMD INFLUENCED YOU INTO BECOMING THE PERSON YOU ARE TODAY?

I am stronger willed. More of a caring personality. My outlook on life has changed for the better. Life is to short and I am not going to waste it by worrying how the MD is going to affect me. I do almost everything I did prior to my diagnosis. Now, it just takes a little more time and effort, but I enjoy everything I set out to do.

WHAT DO YOU WANT THE WORLD TO KNOW ABOUT LGMD?

We need more research and funding. It may not affect “you” but somewhere along the way, your kids children……. will be affected. It would be nice to have a cure. Please donate!

IF YOUR LGMD COULD BE “CURED” TOMORROW, WHAT WOULD BE THE FIRST THING THAT YOU WOULD WANT TO DO?

I would want to travel, go back to work full time, with lots of overtime!! I used to drive trucks (semi’s), so, getting back in a truck and seeing the countryside and getting paid to do it, would be a dream come true!

To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at: http://lgmd-info.org/spotlight-interviews




Darlene

LGMD “SPOTLIGHT INTERVIEW”

 

Name:  Darlene    Age:   65 yrs. old

Country:   United States

LGMD Sub-Type:    Non-Dysferlin Miyoshi Myopathy

 

At what age were you diagnosed:

I was diagnosed at the age of 64.

What were your first symptoms:

In retrospect, I now realize that symptoms began in my 40’s or even earlier.  I’ve always been active, but as the years went by, skills like running, skiing and skating became increasingly difficult, so I did other activities such as biking, kettlebells, weight and CrossFit training.  I coped with my Raynaud’s symptoms by dressing warmer.  Visible muscle wasting in my calves in my early 60’s began my year long journey to diagnosis.  By then, 80-90% of both gastrocnemius muscles had been replaced by fat.

Do you have other family members who have LGMD:

No, but two sisters have/had juvenile diabetes.  One died of heart complications from the disease at 53.  The other, now 58 and in fragile health, had a kidney/pancreas implant at 39.

What do you find to be the greatest challenges in living with LGMD:

As the co-owner of a CrossFit gym, I’m constantly trying to find the appropriate balance between working hard enough to challenge and keep my healthy muscles strong and mobile, yet not so hard that I destroy my at-risk muscles.  So far, the impact of the disease has been minimal on my life:  I continue to look, feel and move younger than the average 65-year old.  I try to focus on what I am able to do each day, and remind myself that everyone, not just me, faces a progressive degenerative condition called aging.

What is your greatest accomplishment:

Growing up with diabetic sisters impressed upon me the importance of good nutrition and regular exercise.  I understand that what I put into my mouth matters, and that adequate sleep and recovery from stress is essential, no matter what ails you.  While I can’t know for certain that healthy habit help minimize my symptoms, I choose to believe they do, and will continue to be as proactive as possible in that regard.  As a coach, I’m able to model the excellent health practices and work closely with our members so they reap those benefits themselves.  I became a CrossFit coach at age 60 (after a 35-year career as a newspaper journalist) and it’s gratifying to have others tell you that you’ve helped them change their lives for the better.

How has LGMD influenced you into becoming the person you are today:

Decades before my official diagnosis, puzzling physical limitations pushed me to find other ways to be active and contribute in a community of competitive outdoor endurance athletes.  Being resilient, physically active and strong is a part of my identity that I will work to hold on to as long as I am able.  I’m counting on that mindset to help me face whatever uncertainties the future holds.

What do you want the world to know about LGMD:

Muscular Dystrophy is a rare disease with infinite individual variations.  And since there is no cure, and little financial incentive for drug companies to find one, a diagnosis is often the end to health care professionals interest in you.  Find support where you can, and be your own advocate.

If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do:

I would love to cross country ski.  We live on a trail system that connects to the 54K American Birkebeiner Ski Trail and  I would love to experience the thrill of gracefully gliding along the hills and valleys of this beautiful forested trail.

 

To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at: http://lgmd-info.org/spotlight-interviews




Cecilia

LGMD Spotlight Interview

Name: Cecilia   AGE: 36 years

Country: Argentina

LGMD Sub-Type:  LGMD2A/Calpainopathy

 

At what age were you diagnosed?

I was diagnosed when I was 12 years old.

What were your first symptoms:

I began walking on my toes. Also, from the time I was little, my mother noticed I had delayed reactions, for example in chasing a ball.

Do you have other family members who have LGMD?

No, I am the only one in my family with LGMD.

What do you find to be the greatest challenges in living with LGMD?

The biggest challenge was getting accustomed to the first changes, the first things that I became unable to do: for example, climb stairs and get up from the floor.  At a more advanced stage, coming up with strategies to be able to get up from the bed, from a chair, etc. and then, mourning the loss of walking ability and beginning to use a wheelchair or scooter part-time or full-time.

Also, it was a challenge to find balance and know the limits of my body.  Knowing how far I could go without exhausting myself; deciding what to do myself and when to ask for help.

The good thing is that I learned to accept changes, to be clever and creative, and to think of solutions to do thing in other ways, and to look for alternatives.

What is your greatest accomplishment?

My biggest accomplishment is that I’ve always achieved what I wanted, and I continue to do so.  My family deserves a lot of credit for that, they always taught me that the disease isn’t a barrier or an excuse, that everything is possible if one can “find a way”, that there is an alternative path, which may have obstacles, but which will lead us to our goal.

How has LGMD influenced you into becoming the person you are today?

If I didn’t have this disease I wouldn’t be the person I am.  The challenges made me grow and become strong.  I don’t deny what I can’t do and the circumstances that affect me.  I developed the ability to confront with a positive attitude the changes that occur. I know that in some way things always work out.

This has influenced my professional career and the field that I chose to work in.  I work in non-governmental organizations on behalf of the rights of people with disabilities, especially where physical accessibility is concerned.  Also, here in Argentina, I’m part of the Muscular Dystrophy Association, and write articles giving encouragement to others who are experiencing situations which cause disability.

What do you want the world to know about LGMD?

  1. That this disease, just like many others, doesn’t make people less than others.
  2. To shoot down myths, such as that we are weak and fragile.
  3. To move past prejudice.
  4. For there to be equal rights: that we can study, work, fall in love, and accomplish so many things.

I’m a person determined to live a full life. Isn’t that what everyone is looking for?

If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do?

I can imagine so many things!  Nothing very special, but just to reconnect myself with my body: run, jump, climb stairs, ride a bicycle, play with my nephew on the floor, go to all the places that I couldn’t get in to.

And clearly, I would have more push to keep helping those who are still waiting for a cure!  I’m a part of this.

 

To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at: http://lgmd-info.org/spotlight-interviews




Keisha

LGMD “Spotlight Interview”

Name:  Keisha  Age: 31 yrs. old

Country: United States

LGMD Sub-Type : Unknown

 

At what age were you diagnosed:

I was diagnosed about 5 years ago at the age of 25-26.

What were your first symptoms:

I noticed that I was repeatedly falling and that my leg would give out without any warning.  I also recall that I was unable to raise my right arm unless I had assistance.

Do you have other family members who have LGMD:

So far, no one in my family has muscular dystrophy but I plan to have my parents tested to see if they are carriers.

What do you find to be the greatest challenges in living with LGMD:

One of the greatest challenges is always having to plan ahead – if going out with friends or family to make sure the place is handicapped accessible.  Every day it also takes me longer to get dressed in the morning.

What is your greatest accomplishment:

Coming to the fact that I have LGMD and still trying to figure out which form of LGMD.  And learning to embrace it.

How has LGMD influenced you into becoming the person you are today:

I feel LGMD has made me an unique individual helped me to bring awareness of the disease to others that don’t know much about it.  Having LGMD has helped me to become stronger and more independent.  I know that having LGMD is a part of me, I am human and still have my days just like anyone else.  I am a strong and proud woman with LGMD.

What do you want the world to know about LGMD:

LGMD is something that currently has no cure.  It is something that won’t go away.  Physical therapy and aquatic therapy help manage the disease.  Even with LGMD, we are still strong and can live a normal life just like anyone else.

If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do:

If I could be cured tomorrow, I would want to run a marathon, run up and down the stairs, and take a big vacation somewhere to celebrate!

 

To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at: http://lgmd-info.org/spotlight-interviews




Andrea

LGMD “SPOTLIGHT INTERVIEW”

Name:   Andrea  Age:  42 yrs. old

Country:  United States

LGMD Sub-Type:  Collagen 6 Congenital MD (Intermediate on the spectrum between Bethlem and Ullrich CMD)

AT WHAT AGE WERE YOU DIAGNOSED:

I was first diagnosed at age 6 with Limb Girdle MD.  I was 40 years old when I received my correct diagnosis of Collagen 6 CMD from a free diagnostic study at the National Institutes of Health (NIH).  For as long as I can remember, I thought I had LGMD, but until you have genetic diagnosis, your diagnosis isn’t complete or accurate.  It’s common to be first diagnosed with LGMD and later determine you have COL6 CMD.

WHAT WERE YOUR FIRST SYMPTOMS:

As an infant, I never crawled; I scooted.  Around 18 months, my head began to lean to the right, and I had very limited range of motion on that side.  I was diagnosed with Torticollis and would go on to have three muscle release surgeries for it, the first at 22 months, clipping only at the center, beneath my neck.  The second and third surgeries, at age 6 and 12, involved clipping the muscle behind the ear and at the base of the neck.  Torticollis is common with my form of MD.

I developed worsening scoliosis into my pre-teen years, had knees that turned inward, and walked slightly on my tiptoes due to contractures that prevented my legs from straightening. My arms were slightly contracted at the elbows.  I kept banged up knees as a child, because I fell a lot.  I also struggled to get up from the floor and had difficulty climbing stairs.

DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD:  

My middle sister who was about six years older, Cheryl, was diagnosed with me in 1980.  She was the one that donated the muscle tissue for our initial diagnosis.  She passed away more than 7 years before our diagnosis was revised to COL6 CMD, however.

WHAT DO YOU FIND TO BE THE GREATEST CHALLENGES IN LIVING WITH LGMD:

Fatigue is a daily hurdle for me.  Non-invasive ventilation via a bi-level device (Trilogy 100) and daily stretching of my breathing muscles with use of CoughAssist allows me to take deeper breaths during sleep and throughout the day.  However, my body is now finding all activities of daily living more tiring.  The basic things the average person takes for granted are now beginning to become consistent energy-zappers.

Currently, it is impossible for me to stand up from a standard height chair without full assistance. A close second to that would be my struggle with putting socks and shoes on.  I only walk indoors and do so very slowly and carefully while steadying myself with the wall and furniture.  I have always adapted my surroundings and ways for doing things, so these challenges really seem more like inconveniences most days. They are my normal. My power wheelchair helps me accomplish what I need outside of my home.

WHAT IS YOUR GREATEST ACCOMPLISHMENT:

My greatest accomplishment would be a tie between two things.  The first would be turning the tragedy of my sister’s death from respiratory failure into the organization I founded, Breathe with MD.  Through Breathe with MD, I share information to help educate about breathing muscle weakness through my website (http://www.breathewithmd.org/index.html), social media (Facebook.com/BreathewithMD  Twitter: @BreatheMD), and the closed Facebook group “Breathe with MD Support Group.” Breathe with MD teaches common intervention and management mistakes and equips those living with muscle-wasting disease to be advocates for their own appropriate respiratory care.  Tied with that is being crowned Ms. Wheelchair Tennessee 2017.

HOW HAS LGMD INFLUENCED YOU INTO BECOMING THE PERSON YOU ARE TODAY:

My disease has helped me to be a great problem solver. I also think the progressive nature of the disease and the gradual loss of function has helped me to handle loss much better.  As the disease worsens, I lose more function and grieve with each loss.  It puts my life into perspective, and I don’t sweat the small stuff as much as I did when I was highly functional with my disease.

WHAT DO YOU WANT THE WORLD TO KNOW ABOUT LGMD:

I want people to understand that it can impact the breathing muscles, even when the subtype does not commonly affect breathing.  It doesn’t necessarily mean that person will need to go on assisted ventilation; they could just need mechanically assisted cough (MAC) for a weak and/or ineffective cough.

It’s when the disease progresses to affect the muscles in the abdominal area, it can weaken the diaphragm and its accessory muscles between the ribs.  This causes the person to have limited ability to take deep breaths.  Over time, this pattern of chronic shallow breathing allows the waste product of the air we breathe, Carbon Dioxide, to build to potentially dangerous levels.  This always starts during sleep.  When you aren’t engaging in activity that causes you to exert yourself, you aren’t allowing your body the opportunity to become short of breath.  This is the primary way in which breathing muscle weakness can remain hidden to the individual for many years.  The body compensates, but when the person gets a cold, their threshold may be reached, and it spirals rapidly into a respiratory infection and potentially pneumonia. At that point, they can develop a respiratory crisis that sends them to the ER.

I don’t want to scare anyone, but being proactive is the proven way to avoid hospitalization and invasive ventilation.  I urge everyone with any form of muscle wasting disease to get a baseline respiratory evaluation and have regular follow-up visits with a medical professional who specializes in the breathing issues of patients with neuromuscular disease. It can be scary to think about this, but there are hundreds of other patients willing to support you through this part of your journey.  You can meet them in the Breath with MD Support Group.

IF YOUR LGMD COULD BE “CURED” TOMORROW, WHAT WOULD BE THE FIRST THING THAT YOU WOULD WANT TO DO:

I would like to play chase with my sometimes hyper basset hound Roscoe and then walk out onto the sandbar in Sanibel Island and bend down to gather seashells.

* * * *
To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at: http://lgmd-info.org/spotlight-interviews




Brenda

LGMD “Spotlight Interview”

Name:  Brenda  Age:  55 yrs. old

Country:  United States

LGMD Sub-Type:  LGMD2A – also known as Calpainopathy

 

At what age were you diagnosed:

I was diagnosed when I was 50 years old.

What were your first symptoms:

My first symptoms included:  falling, wrist drop, an unusual gait when walking with my hips out in front, leg cramps and rapid weight loss.

Do you have other family members who have LGMD:

No other family member has LGMD.

What do you find to be the greatest challenges in living with LGMD:

The greatest challenge in living with LGMD is that I look normal and the disease if forever.

What is your greatest accomplishment:

Some of my greatest accomplishments include:  skiing the Alps, sea-kayaking the Atlantic coast, sea-kayaking Lake Champlain, and rollerblading the State of Vermont.  In addition, raising a healthy 17 year old daughter and being married for 25 years to an exceptional husband who loves me dearly no matter what!  I have also maintained a job as the Recreation Director of Vermont’s only 5-Star Resort for 22 years.

How has LGMD influenced you into becoming the person you are today:

I have a positive attitude and stay healthy and happy no matter what.

What do you want the world to know about LGMD:

I want to tell everyone that I am still the same Brenda who use to dance every chance I got and do cartwheels and backbends on the sandy beach at Gay Head Cliffs in Martha’s Vineyard.  The one who was first to get up slalom on water skis, the first to downhill, cross-country and telemark ski and first to ski the alps in Europe.  First to ski the headwall at Mt. Washington, Tuckerman’s Ravine.  The one to ski all the black & double black diamond trails at Killington ski Resort in Vermont including all the wood’s trails for 30 years.  I will never let this disease label me or bring me to a bed ridden state.  Dr. Anthony Amato said “Good Long Life” ahead at 50 when I was diagnosed.  I want to let the world know that someone with a disability is just like you!

If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do:

Dance with my husband without fatigue.  Ski the powder trails with perfect turns.  Walk on a sandy beach without fatigue.  Hike at a good pace again with no joint pain or wrist drop.  Bike with the ladies rides and be able to keep up.  Fat tire bike on the snow.

To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at: http://lgmd-info.org/spotlight-interviews




Adriana

LGMD “Spotlight Interview”

Name:    Adriana    Age:  48 years oldlgmd2b-adriana

Country:   Argentina

LGMD Sub-Type:  LGMD2B

 

WHAT AGE WERE YOU DIAGNOSED:

I was diagnosed at the age 20.

WHAT WERE YOUR FIRST SYMPTOMS:

My first symptoms included: difficulty climbing stairs, tiredness, and some falls.

DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD:  

Yes, my brother also has LGMD.

WHAT DO YOU FIND TO BE THE GREATEST CHALLENGES IN LIVING WITH LGMD:

In the beginning the greatest challenge was the process of accepting the disease. Given that I am a very independent person with a very active life, today my biggest challenge is making my desires compatible with what is possible, and finding strategies that permit me to reach my goals, understand my limits, and find solutions.

WHAT IS YOUR GREATEST ACCOMPLISHMENT:

Being able to overcome the obstacles I was facing, being a mother, being surrounded by my loved ones, and working every day at something I like.  Working in an NGO for neuromuscular diseases, ADM Argentina, of which I was its president in 2011 and 2016.

HOW HAS LGMD INFLUENCED YOU INTO BECOMING THE PERSON YOU ARE TODAY:

I had to redefine my projections for my future and in what fields I wanted to work, that was a big challenge. But it was possible, I was able to grow as a person, to live my daily life with more interest, to value what life has offered me, and to try to help other who are going through similar situations.

WHAT DO YOU WANT THE WORLD TO KNOW ABOUT LGMD:

I would like the whole world to know about the existence of LGMD, its possible treatments, above all fight for early detection to improve our quality of life.  Support diagnosis and research.

IF YOUR LGMD COULD BE “CURED” TOMORROW, WHAT WOULD BE THE FIRST THING THAT YOU WOULD WANT TO DO:

I would go skating again.

 

To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at: http://lgmd-info.org/spotlight-interviews

 




Nitesh

unknown-niteshLGMD “SPOTLIGHT INTERVIEW”

Name:  Nitesh   Age:   27 years old

Country: India

LGMD Sub-Type:  LGMD (sub-type unknown)

 

At what age were you diagnosed:

I was diagnosed at the age of 10.

What were your first symptoms:

My first symptoms included: calf muscle stiffness and pain and frequent falls along with difficulties in running and jumping.

Do you have other family members who have LGMD:

No, I am the only one in my family with LGMD.

What do you find to be the greatest challenges in living with LGMD:

The greatest challenge in living with LGMD is that you have to plan and depend on others for things which normal people take for granted in their lives. For example, if you are going to restaurant or movie theatre or checking in a hotel  you need to check if the infrastructure is disabled friendly, if you are travelling you need to make sure that the personal care assistant is available, make provisions for your wheelchair battery etc.

What is your greatest accomplishment:

There are so many accomplishments. The fact that I am still working and is leading a happy and a wonderful life is an accomplishment itself. Despite the challenges I have been able to complete my undergraduate degree in Finance and has also completed all level of Chartered Accountancy (CA) and Chartered Financial Analyst (CFA, US)

How has LGMD influenced you into becoming the person you are today:

Living with LGMD is challenging but full of teachings and experience. It is a progressive disease and in the entire journey you face several challenges of different magnitude. It had made me stronger and less worrisome. Most importantly it imparted training unconsciously to become more used to changing environment which has helped me personally adjust in various spheres. I have come a long way from being able to play cricket to a situation where now even standing is little difficult. All such experiences have taught me to stay contended and happy with whatever I am left with.

What do you want the world to know about LGMD:

According to me LGMD is not a disease but a way of life. There are numerous forms of physical disabilities where you see a lot of inspiring people are able to develop a skill such as painting with one hand or leg, finding their own unique way to lead normal life, but what’s most unique about LGMD is that it constantly changes the situation and the moment you find yourself in a comfort zone, it throws some another challenge and leaves you at a starting point again. So it’s important to treat each individual with LGMD differently and that all the solutions needs to be tailor made.

If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do:

I would like to go on an adventure spree, do all sort of activities such as mountaineering, paragliding, driving car or as simple as taking a long walk.

To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at: http://lgmd-info.org/spotlight-interviews




Amie

LGMD “SPOTLIGHT INTERVIEW”

Name:  Amie  Age: 31 yrs oldlgmd2j-amie

Country: United States

LGMD Sub-Type:  LGMD2J (Titinopathy)

 

At what age were you diagnosed:

I was just diagnosed at the age of 31 with LGMD2J – also known as Titinopathy.

What were your first symptoms:

I have always had problems with my legs and walking, but was always told that it was from short Achilles tendons. After having surgeries to lengthen them, my calves atrophied. My core muscles seemed weak & I always thought it was from having two C-sections. It wasn’t until this year that my body took a drastic change in becoming weak and I couldn’t ignore it anymore so I made it my mission to find answers.

Do you have other family members who have LGMD:

No known family members suffer from this disease.

What do you find to be the greatest challenges in living with LGMD:

My LGMD has many challenges. I struggle every day with “normal” daily activities: walking across a room, standing up from a seated position, going up a step or uphill, climbing into a truck, bending down, balancing etc. It can be frustrating at times. I miss out on a lot because of the constant pain I feel. If I do too much (which doesn’t take a lot), it will put me down for days. I have to pick and choose what is important and what is not. All of this affects my family’s lives as well which I carry the burden for. LGMD has definitely taken some of my freedom which is hard to deal with, but I try to keep a positive mindset!

What is your greatest accomplishment:

My greatest accomplishment is being a mom, wife & sister! I have two beautiful daughters, an amazing husband & the most supportive family anybody could ask for. They are the reason I stay positive and “fight like a girl”! All my life all I ever wanted was to be a mom and have a loving family! I am definitely blessed!

How has LGMD influenced you into becoming the person you are today:

Though my diagnosis is fairly new, I always knew something was wrong deep down. I actually self-diagnosed myself with LGMD before getting a diagnosis from my neurologist. So when the test results came back I felt an awkward sense of joy. I finally had a diagnosis! I feel like I  have been given this disease for a reason that I haven’t found an answer for yet. I truly believe everything happens for a reason and timing is everything. LGMD is such a rare disease that is definitely unknown in my area so I am going to research as much as possible and advocate to as many people as possible. I know that I am strong even though my muscles aren’t. I enjoy the little things in life and live in the moments! I also seek the positive in every situation. Life is too short to focus on the negative!

 

What do you want the world to know about LGMD:

I want the world to know that 1 in 43,000 people have Limb Girdle Muscular Dystrophy. Unfortunately there is no cure for this disease.  Due to its rarity, there is less funding for research which keeps me further from receiving a cure. LGMD can creep into any family & it effects lives on a daily basis. Eventually I foresee this disease taking my ability to walk, but I am going to fight it as long as I can!

If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do:

Where do I start? I would take my daughters to Disney World and then hiking in Colorado! I would walk up a flight of stairs just because I could! I miss the little things I use to do like shopping, dancing or even taking a bath! You don’t realize the freedom you lose until it’s gone!

 

To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at: http://lgmd-info.org/spotlight-interviews




Anna

LGMD SPOTLIGHT INTERVIEW

Name:  Anna   Age:   36 yrs. oldlgmd2i-anna

Country: Canada

LGMD Sub-Type:  LGMD2I

 

At what age were you diagnosed:

I was initially diagnosed with a “non- specific muscle myopathy when I was a young child (sometime in grade school). Later in life, when I was 26, I was given a “working diagnosis” of LGMD. Finally, at the age of 36, I was formally / clinically diagnosed with LGMD 2I via genetic testing.

What were your first symptoms:

I’m not really sure what my first symptoms were because though I had this disease from birth my parents never talked to me about it. They felt that because my symptoms didn’t medically impact my life then there was no need to dwell on them. Looking back on it- if I had to guess- my earliest symptoms (that I can recall) were toe- walking, and achy calves. I also recall not being able to easily participate in some gym activities like cross- country running and gymnastics.

Do you have other family members who have LGMD:

I have three brothers. It is interesting, the two brothers closest in age to me are affected with LGMD but my youngest brother (who is seven years younger) is not affected at all and, in fact, is extremely athletic.

What do you find to be the greatest challenges in living with LGMD:

For me, the first greatest challenge is the ever changing needs of this disease- sometimes it’s hard to keep up! For example, you get used to doing a certain task one way and suddenly, one day, you can no longer do it that way (or you might discover you can no longer do that task at all). Also,  you buy a piece of equipment to assist you and it works for a while but then you reach a place where it is no longer helpful and have to either buy yet another piece of equipment or think of something else.

The second greatest challenge living with LGMD, for me, is not knowing how this disease will affect your future. Every one progresses differently, to varying degrees and rates so it is difficult to anticipate what your future needs will be or to plan any kind of future because physically you just don’t know what kind of shape you will be in.

What is your greatest accomplishment:

I work very hard to live a full life so it’s hard for me to name one accomplishment. Sometimes living with disease just getting out of bed feels like my greatest accomplishment J In all seriousness though, I am a mother to two children (one biological and one adopted) so watching them grow gives me tremendous joy and gives me an immense sense of accomplishment.  I was also a parish priest for almost ten years and so I had the great honor of journeying with people through their most difficult times. Knowing that I may have helped them navigate that tough patch (even if it was to a small degree) gives me a sense of pride.

How has LGMD influenced you into becoming the person you are today:

LGMD has influenced my life in many ways.  It has taught me to be adaptive to my environment. I think, when living with this disease, you naturally learn to think outside the box.

It has also taught me not to dwell because when you dwell you feel ‘stuck’ which isn’t helpful or healthy.   LGMD has also given me the gift to appreciate all the little things in life. Most importantly, LGMD has given me the ability to not take myself so seriously. My youngest daughter tells me regularly that I am” goofy” and I’m good with that- life is too short and too uncertain not to give pause and have a good laugh. One of my mottos in life is: “If plan ‘A’ doesn’t work, there are twenty five more letters in the alphabet!” J

What do you want the world to know about LGMD:

This disease affects everyone differently and even with the same person it affects them differently depending on the day and surrounding environment. This means that sometimes there may be a lot of anxiety for the person with M.D. Sometimes a seemingly simple and mundane task to an able- bodied person can seem overwhelming to a person with M.D. because of the process and/ or physical barriers involved.  All I can say to the world, friends, family and caregivers is that it’s important to love and support those with M.D. not just physically but emotionally and psychologically too–  even when you may not completely understand what it is they are feeling and why.

If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do:

If I woke up today and had no symptoms I would, without a doubt, head directly to the beach!

 

To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at: http://lgmd-info.org/spotlight-interviews




Michele

LGMD “SPOTLIGHT INTERVIEW”

 

NAME:  Michele   AGE: 52 Yrs. Oldlgmd2a-michele-w

COUNTRY:  United States

LGMD Sub-Type:   LGMD2A – Calpainopathy

 

AT WHAT AGE WERE YOU DIAGNOSED:

I was initially diagnosed with an unspecified form of muscular dystrophy at the age of 25 years old.  I received confirmation of my LGMD2A diagnosis at the age of 43.

WHAT WERE YOUR FIRST SYMPTOMS:

In my late teens I developed an awkward waddle when walking and in my early 20’s began limping.

DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD:

Yes, one sibling has LGMD2A but the other does not.

WHAT DO YOU FIND TO BE THE GREATEST CHALLENGE IN LIVING WITH LGMD:

To be blunt, the worst part is dealing with public restrooms because the transfer to/from a wheelchair is physically difficult and the restrooms are not always adequately set-up so I am always worried about drinking water or coffee while I’m out.  Sometimes it feels as though my life revolves around fluid management!

WHAT IS YOUR GREATEST ACCOMPLISHMENT:

Professionally, my greatest accomplishment is my involvement in the creation and management of Coalition to Cure Calpain 3 (C3) which is a non-profit group focused on funding high potential research to cure LGMD2A (also known as Calpainopathy),and educate the global community about the disease.

Personally, my latest accomplishment is solving a New York Times Mini Crossword puzzle in 15 seconds,
HOW HAS LGMD INFLUENCE YOU INTO BECOMING THE PERSON YOU ARE TODAY:

On the plus side, it has made me more empathetic and given me the opportunity to show my children that it is important to take action when you are frustrated with the state of things.  Don’t complain; be an agent for change.

On the down side, it has made me adjust my daily life as my mobility has worsened, and while I certainly make the most of my life and am generally happy and productive, it certainly presents its challenges, and that can get tiring physically and emotionally.

WHAT DO YOU WANT THE WORLD TO KNOW ABOUT LGMD:

We need more funding for research and more scientists engaged in finding a treatment or cure.

IF YOUR LGMD COULD BE”CURED” TOMORROW, WHAT YOULD BE THE FIRST THNG THAT YOU WOULD WANT TO DO:

Ride a bike (preferably a pink Schwinn with a basket on the handlebars and a thermos of coffee) to the beach and walk along the jetty with my family.

 

To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at: http://lgmd-info.org/spotlight-interviews




Kelci

LGMD “Spotlight interview”

Name:  Kelci   Age: 23 yrs. oldlgmd2j-kelci

Country: Australia

LGMD Sub-Type (if known):  LGMD2J – Titinopathy

 

At what age were you diagnosed:

I was just recently diagnosed at the age of 23.

What were your first symptoms:

At first I noticed having to consciously think about stepping up on to pavement or ledges. I then noticed that climbing stairs was getting more difficult as well as walking distances.

Do you have other family members who have LGMD:

Yes, one sibling does.

What do you find to be the greatest challenges in living with LGMD:

The greatest challenge about living with LGMD is finding daily activities such as walking distances or climbing stairs difficult, as these were things that I once didn’t think twice about. Another challenge for me is having a rare form of Muscular Dystrophy, as there is hardly any information for me to relate to or predict what may happen.

What is your greatest accomplishment:

LGMD is still very new to me as I was only diagnosed 3 months ago, I am still trying to adjust and figure out what living with LGMD is going to mean for my future. My biggest accomplishment is just simply learning how to stay positive and incorporate Muscular Dystrophy into my life.

How has LGMD influenced you into becoming the person you are today:

I believe I have learned not to take anything for granted and to appreciate what you have, while you have it. It’s so important to stay positive!

What do you want the world to know about LGMD:

I think it’s important to realize that we are still the same person we once were. People should also know that not every day is the same for someone with LGMD, some days we will be better than others and what we can do one day we may not be able to do the next.

 

 

To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at: http://lgmd-info.org/spotlight-interviews




Tony

LGMD “Spotlight Interview”

Name: Tony  Age:  32lgmd2i-tony-h

Country: United States

LGMD Sub-Type: LGMD2i

 

AT WHAT AGE WERE YOU DIAGNOSED:

I was diagnosed with LGMD around the age of 26 at the Cleveland Clinic and then officially diagnosed with 2i last year through genetic testing.

WHAT WERE YOUR FIRST SYMPTOMS:

Looking back, I was always struggled to keep up a bit with other kids while playing sports, hiking, running, etc. My first noticeable “something might be up” symptoms started showing while I was touring the country with bands and loading gear every night about 10 years ago. I began to struggle a bit doing things I’d previously never had problems with (going up stairs without using a handrail, carrying large gear, etc.)  I continued to notice small things getting more difficult through college but (of course) ignored it for years.

DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD:

Nope. Just me.

WHAT DO YOU FIND TO BE THE GREATEST CHALLENGES IN LIVING WITH LGMD:

Adjusting and adapting and giving up things I’ve greatly enjoyed. Having to be extremely careful with seemingly every single movement. I greatly miss things like going for a run (even if it wasn’t quite graceful), walking to get groceries, and just getting from point A to point B uninhibited.

WHAT IS YOUR GREATEST ACCOMPLISHMENT:

Finishing college after putting it on hold to play music and travel all over with my friends. Writing comedy for an independently released movie, web series, and book. Moving to Los Angeles and pursuing/accomplishing a career in entertainment/media and marrying the most perfect person for me in the world.

HOW HAS LGMD INFLUENCED YOU INTO BECOMING THE PERSON YOU ARE TODAY:

It’s greatly improved my problem solving skills; making me more resourceful, creative, and patient. I’ve been able to apply that to my career and other parts of my life that have definitely made me a better teammate, friend, husband, and creative person. At least I think it has and I hope others would agree!

WHAT DO YOU WANT THE WORLD TO KNOW ABOUT LGMD:

A good start would be getting the entire world to know it actually exists. That it’s a major struggle for those affected but so many of us are living happy/productive lives, and there are treatments and cures on the horizon that we’d love everyone’s help and understanding in pushing them to the finish line.

IF YOUR LGMD COULD BE “CURED” TOMORROW, WHAT WOULD BE THE FIRST THING THAT YOU WOULD WANT TO DO:

Man…I think about this constantly so I already have the day planned: I’d take my dog for a nice, long walk (maybe run?). I’d carry all the groceries in instead of needing my small wife to deal with it. I’d play hacky sack with some college dudes and maybe try this “hiking” thing that people in Los Angeles seem to love so much.

**********

To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at: http://lgmd-info.org/spotlight-interviews




Scott

LGMD “SPOTLIGHT INTERVIEW”

Name:  Scott  Age: 48 yrs. oldLGMD2L - Scott

Country:  United States

LGMD Sub-Type:  LGMD 2L – also known as Anoctaminopathy

 

At what age were you diagnosed:

Although my MD began about 15 years ago, I was finally diagnosed recently with limb-girdle MD Type 2L. Until now, I was only informed by doctors that it was LGMD.

What were your first symptoms:

I began having difficulty climbing stairs and running.

Do you have other family members who have LGMD:

No

What do you find to be the greatest challenges in living with LGMD:

I have always been an independent person.  Since I am an only child, I always did things on my own. Lately, I have had to rely more and more on family and friends.  Also, it drives me nuts as to how long it takes me to do things now.

What is your greatest accomplishment:

I am proud to have completed college and earned my degree.

Also, I am happy to have worked 30 years for the same company before having to resign due my struggling with MD.

How has LGMD influenced you into becoming the person you are today:

I am still trying to develop patience. I take pride in accomplishing tasks that once I took for granted.

What do you want the world to know about LGMD:

Please continue to support local and national MD charities whether it be financially or volunteering time to those in need. It is greatly appreciated.

If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do:

Walk unassisted down by the ocean at one of my local beaches.

 

To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at: http://lgmd-info.org/spotlight-interviews

 




Steven

LGMD Spotlight interview:   

Name:  Steven  Age:  57 yrs. oldUnknown -Steven

Country:   United States

LGMD Sub-Type :  LGMD (sub-type unknown)

 

At what age were you diagnosed:

I was diagnosed at the age of 43.

What were your first symptoms:

Vague symptoms have been present since birth.  I had a waddling gait, could not climb, had difficulty with stairs but the doctors could not diagnose the cause.  My mother always knew something was wrong….but what?  I was finally diagnosed with LGMD when heart problems began at the age of 43.

Do you have other family members who have LGMD:

Yes, most likely.  A second cousin (female) and my Grandpa Stone possibly had a form of MD because he was crippled from youth but back then they called it “rheumatism”.  I also had another second cousin (male) who was totally helpless and died young.

What do you find to be the greatest challenges in living with LGMD:

The greatest challenge are falls!  I was in Boy Scouts since the age of 11 and had difficulty keeping up with other boys in activities.  I have experienced numerous falls.  I require the rescue squad and neighbors to help me up as my wife is usually at work when I fall.

What is your greatest accomplishment:

My greatest accomplishments include fathering 4 children – 3 of which are still living.  I was able to hold a job for 25 years and volunteered with the local rescue squad for 38 years; beginning at the age of 16.  I continue to volunteer with the rescue squad but only answer the phone.

I served as a Boy Scout Leader (assistant scout Master for 25 years.)  Currently, I am now an organizational representative.  I was an Eagle Scout in 1978.  For my Eagle project, I did a church cassette tape ministry.  I continue to serve as the sound man at church today,

How has LGMD influenced you into becoming the person you are today:

All of my life – everything that I do is a challenge!  But with work and determination, I have ‘Kept on Keeping on.’   I am determined to stay as active as I can be despite my LGMD.

What do you want the world to know about LGMD:

LGMD makes every accomplishment a real challenge.  But work and the desire to succeed can make many things possible.  My whole life has been hard but it could be worse….especially if I had a different type of muscular dystrophy or I had a more severe form of LGMD.

If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do:

If my LGMD could be cured tomorrow, I would want to be recertified as an EMT and then volunteer on active duty with the rescue squad.

 

To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at: http://lgmd-info.org/spotlight-interviews




Melanie

LGMD Spotlight interview – 09/02/2016

 

Name:  Melanie  Age:  29 yrs. oldLGMD2i - Melanie B

Country:   Germany

LGMD Sub-Type :  LGMD2i (heterozygous type)

 

At what age were you diagnosed:

I was diagnosed at the age of 4 by having a muscle biopsy.

What were your first symptoms:

I always fell when I tried to run and to take the stairs.  This resulted in many bruises and scars!  In addition, I couldn’t get up from the floor by myself.   These symptoms already showed up around the age of 2.

Do you have other family members who have LGMD:

No, I am the only one in my family with LGMD.

What do you find to be the greatest challenges in living with LGMD:

The greatest challenge is to make people understand that I’m not too lazy to do everyday tasks but I am too weak to do them on my own.  Another challenge for many of us is accepting a wheelchair as your best friend!

What is your greatest accomplishment:

There are far too many accomplishments!  Living a good life with LGMD is an accomplishment in itself!  On my blog (www.littlemissturtle.com) I write about all of my accomplishments and adventures on wheels.

How has LGMD influenced you into becoming the person you are today:

I grew up with LGMD.  It made me a very strong person.  Dealing with a progressive disease that causes muscle weakness and atrophy while being fully conscious  about it is a demanding challenge  I appreciate every day of my life!   I stopped working recently to have more time to do all the things I love.  LGMD taught me to take things the easy way.  Enjoy more, worry less, stay positive and spend as much time as possible with loved ones.  That’s my way!

What do you want the world to know about LGMD:

LGMD is a rare and tricky disease.  It cannot be compared to any other disease like Multiple Sclerosis (MS), etc.  It is important to fully listen to a person who has LGMD when he or she asks for assistance – to avoid hurting him or her in the process.

If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do:

I would get up from the bed by myself, dress and then go for the walk of my life!  I would walk for as long as my feet would carry me.

To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at: http://lgmd-info.org/spotlight-interviews




Melanie

LGMD “Spotlight Interview”

NAME: Melanie   AGE: 33LGMD2B - Melanie
COUNTRY: USA
LGMD Sub-Type: LGMD2b (Dysferlinopathy/miyoshi myopathy)
 
AT WHAT AGE WERE YOU DIAGNOSED:
I was diagnosed one week before my 29th birthday.
 
WHAT WERE YOU FIRST SYMPTOMS:
I could not rise up on my toes, I had hammer toes (foot deformity) and was in pain and fatigued all the time.
 
DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD:
Nope, not one!
 
WHAT DO YOU FIND TO BE THE GREATEST CHALLENGE TO LIVING WITH LGMD:
Losing the ability to do everyday tasks and activates has made life quite challenging. You have to plan ahead for every little thing. It also makes it difficult when people do not understanding this fact. When you do not look sick, people do not take your needs seriously.
 
WHAT IS YOUR GREATEST ACCOMPLISHMENT:
Getting my Master’s Degree and securing a great job in the Federal Government (while being sick every day).
 
HOW HAS LGMD INFLUENCED YOU INTO BECOMING THE PERSON YOU ARE TODAY:
After I was first diagnosed I felt helpless and alone. I knew of not one other person with this form of MD and I was scared. Instead of sulking or letting this get me down, I thought “why not go out and do something about it?!” So I started looking into the MDA and how to fundraise. I started an MDA Muscle Walk Team and have has one every year since. Then I decided that I will do everything I can while I still can (since I am losing the ability to walk). And so I did. I have traveled all over and to some places alone. I have even gone sky diving. I believe that this diagnosis has made me an even more positive person. It has certainly made me an even stronger person. Many of the experience that I have had in the last 4 years, are a directly result of me sticking it to the LGMD and proving the odds wrong.
 
WHAT DO YOU WANT THE WORLD TO KNOW ABOUT LGMD:
First, it does not define us. We are who we are, and we only happen to have this awful disease. Second, just because we look okay, does not mean we feel okay. Third, muscular dystrophy is not MS.
 
IF YOUR LGMD COULD BE “CURED” TOMORROW, WHAT WOULD BE THE FIRST THING THAT YOU WOULD DO.
Dance like I used to! Then hike in all the National Parks and take lots of amazing photographs. Then run a marathon or do an obstacle race.
 
 
To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at: http://lgmd-info.org/spotlight-interviews



Maram

07/26/2016 – LGMD “Spotlight Interview”

NAME:  Maram    AGE: 26 years oldLGMD2E - Maram

COUNTRY: Palestine

LGMD Sub-Type: LGMD2E

 

At what age were you diagnosed:

I was diagnosed with muscular dystrophy at the age of 10.  When I was 26 years old, I received genetic confirmation of my LGMD2E diagnosis.

What were your first symptoms:

When I was 3 years old, my parents noticed that my gait was unsteady and it was difficult for me to stand up from the ground.

Do you have other family members who have LGMD:

No, I am the only one in my family.

What do you find to be the greatest challenges in living with LGMD:

There are so many challenges.  Simple things for many people are my greatest challenges but going to the bathroom and changing my position from side to side while sleeping make me feel so weak.

What is your greatest accomplishment:

Well, in my country people know nothing about LGMD.  I am trying every day to increase the awareness of the disease by social media.  I have helped many patients in my country and in the Arab world to the genetic test to confirm their diagnosis and to get the equipment that we need to make life a little easier for us.  I have also contacted my patients from around the world and we have become close friends.  They are my greatest accomplishments.

How has LGMD influenced you into becoming the person you are today:

I think it has made me stronger in one way or another.  I have become more caring for the people around me. I appreciate every little blessing in my life including my great family.  I have become closer to God.  I think it changed me in a good way and I like who I am today.

What do you want the world to know about LGMD:

I want them to know that we are not so different form normal people.   What happened that a simple genetic error or mutation has caused me difficulty in moving while they can.  The cause is not so complicated and if we understand that, we can find the treatment.

If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do:

I would like to hug my parents so tightly and never let them go.  I keep thinking how hard life would be without them.

To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at:  http://lgmd-info.org/spotlight-interviews




Jonathan

LGMD “SPOTLIGHT INTERVIEW

07/10/2016

Name: Jonathan   Age: 54 yrs. oldUnknown -Jonathan

Country : England

LGMD Sub-Type :  Not known

AT WHAT AGE WERE YOU DIAGNOSED?

Initially when I was 11 (1973), I was diagnosed with Congenital Muscular Myopathy. No further action was taken or attempt made to identify what type of Muscle condition.

Finally, following a mini breakdown in 1988, further tests were done and I was diagnosed with Limb Girdle Dystrophy. Sub Type unknown, and at that time it was not suggested that further investigation would help or be necessary.

As I had always done, I adapted and learned how to deal with it.

WHAT WERE YOUR FIRST SYMPTOMS

When I was a baby, my mother noticed that I could not lift my head up. Whilst I walked at a normal age, she said I found it hard, fell a lot and seemed a lot weaker than other toddlers of a similar age. Later on, trouble walking, falls and other issues flagged up warning signs.

DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD?

No, although it’s possible a maternal great Aunt had a Muscle condition ….but that is historical.

WHAT DO YOU FIND TO BE THE GREATEST CHALLENGES IN LIVING WITH LGMD?

  • The mental acceptance of being subject to a muscle wasting condition.
  • The frustration of being unable to undertake simple tasks such as getting out of chairs.
  • The exclusion of certain activities.
  • Being unable to control muscle strength.
  • Breathing – two near death experiences –living with a ventilator.
  • Heart – curtailing improving fitness.
  • Becoming exhausted all the time.

WHAT IS YOUR GREATEST ACCOMPLISHMENT?

My children, neither of whom have any indication of muscle weakness. Both are fit and healthy.

Being a nice guy, with many friends and a great family.  I worked for 35 years full time.

HOW HAS LGMD INFLUENCED YOU INTO BECOMING THE PERSON YOU ARE TODAY?

I believe LGMD has influenced me, for the worse mainly.

From an early age I was conscious I failed at a lot. Especially at school, but also in the family.

My sister was three years younger than me, but seemed to overtake me very quickly and achieve success in many areas. She’s lovely, my sister, and I didn’t begrudge her, but it was hard to take. I got used to losing. I was sent to Public school which specialised in sport, Cross country runs I would come last by such a distance that I would be told to go round again and I tried Rugby, Football, Squash, Cricket, Hockey, Fives….I never used LGMD to avoid having a go. But I was hopeless and hated it. This inadequacy crept in all areas, I lost all confidence in academic work…. I panicked in exams and failed most of them. True friends were few and far between…and I couldn’t get a girlfriend for anything…they just laughed at my attempts. I am sure this lack of self-confidence was a result of my physical condition impinging of emotional and spiritual feelings. Whilst I still feel this , I have developed ways to overcome most areas of life, and have made it through 54 years.

WHAT DO YOU WANT THE WORLD TO KNOW ABOUT LGMD?

That it is as much to do with internal emotions, as practical difficulties.

IF YOUR LGMD COULD BECURED TOMORROW WHAT WOULD BE THE FIRST THING THAT YOU WOULD WANT TO DO?

I’m not sure I’d change much. I love walking and perhaps I’d go back to Cornwall to enjoy the Coastal cliff walks. It would be nice also to do a bit of travelling without the worry of exhaustion, breathing and logistical practicalities.

 

To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at:  http://lgmd-info.org/spotlight-interviews




Donna-Marie

06/24/2016

LGMD “Spotlight Interview”

Name:  Donna-Marie      Age: 32 yrs. oldLGMD2i - Donna-Marie

Country: United Kingdom

LGMD Sub-Type: LGMD2i

At what age were you diagnosed:

I stared tests at 12 years old, had a Muscular Dystrophy diagnosis at 13 and the subtype a few years later.

What were your first symptoms:

Generally being slower than other children in PE lessons. My teachers noticed that I couldn’t keep up but knew I was too much of a goody two shoes that I had to be trying my hardest!

Do you have other family members who have LGMD:

Nope, I’m 100% unique J

What do you find to be the greatest challenges in living with LGMD:

The greatest challenge for me is how it affects me mentally; I know that I am lucky with my LGMD and that I could have much bigger problems so I try not to complain too much about it but  I did spend a couple of years wanting to hide from the people who stare at me and my limp. My boyfriend of 4 years has changed my attitude to my disability more than I could have ever imagined and although I don’t care about people looking at me anymore, I sometimes struggle when we go out as I feel embarrassed for him when people stare at us and feel like he should be with someone “normal” at his age.

I also hate that I can’t storm off during an argument, especially if I’m sat down on a low chair, ha ha!

What is your greatest accomplishment:

I’d love to say that my greatest achievement is something to do with a career but I have to say that in that department I don’t have much to brag about. But I find it an accomplishment that I manage to keep going and stay positive. I have a modest career but I do still work and socialize.  I don’t try to hide away anymore feeling like Quasimodo!

How has LGMD influenced you into becoming the person you are today:

LGMD has made me grateful for the amazing people I have in my life. I could not wish for a better family, partner or friends.

What do you want the world to know about LGMD:

I’d like the world to know that LGMD doesn’t affect my brain or my eyes!

I don’t need to be talked to like a child and I can see the nudges, whispers and stares.

 

If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do:

There are so many things I could list here but the truth is that I think the very first thing I would do is go out and celebrate with as many drinks as I could handle and not worry that if I fall down, I stay down! And maybe throw in dancing on a few bars J

But as that was a pretty rubbish answer I’d like to add that afterwards I’d go away on a nice holiday with my boyfriend and family where none of them had to worry about if the ground was too uneven, or if there are any steps, or that I can’t walk on the beach or get in/out of a pool or up from a chair.

 

To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at:  http://lgmd-info.org/spotlight-interviews




Dave

05/14/2016:

LGMD “Spotlight Interview”

Name:  Dave    Age:  27 yrs. oldLGMD2A -Dave H

Country: Australia

LGMD Sub-Type:  LGMD 2A / Calpainopathy

 

At what age were you diagnosed:

I think I was diagnosed around the age of 14.  I know that it was while I was in high school.

What were your first symptoms:

I would go to golf every Saturday and when I would come home I would have to go and have a sleep for a few hours.   I would be sore all over.   So, my mother took me to the doctors to see why I was tired all the time.

Do you have other family members who have LGMD:

I am the only member in my family who has any form of Muscular Dystrophy.

What do you find to be the greatest challenges in living with LGMD:

The biggest problem I had was explaining my Muscular Dystrophy to people ( family, friends and strangers) and not have them completely believe me. They just thought I was tired because I was lazy.

I spent a night in hospital with massive cramps in my leg which I could not calm down. I could not walk properly for 3 weeks and still had to work in pain.   I’ve always had a problem with stairs and carrying heavy things for long periods of time.

What is your greatest accomplishment:

My greatest accomplishment is getting married this February to my wife Rebecca.   She has become my strength and motivation to keep moving.  I am a second generation truck driver in Australia and it is something which I am very proud of!  Although, my job can sometimes become rather physical and it takes a toll on me.   My wife, Rebecca, helps me through it all.  She is my wonder woman.

How has LGMD influenced you into becoming the person you are today:

I have learned to listen to people about their condition. I have made a lot of great friends on Facebook who I keep in touch with. I listen to their concerns and problems and ask them for advise also. Most of all I have learned that it is okay to ask for help when I need it — instead of trying to do everything on my own.

What do you want the world to know about LGMD:

I want the world to know that Limb Girdle Muscular Dystrophy exists!!!    It is incredible the amount of times I’ve had to explain my condition to people and they almost don’t believe me.   They don’t understand that my LGMD  cannot be fixed or cured by going to the gym.   There are no cures or treatments for LGMD.  We have no control over our condition, it is a part of us….a part which we struggle with but it is what makes us who we are.

If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do:

My personal goal apart from having a family….would be to play basketball again. I loved it growing up. I would definitely get back out onto the court and run for as long as I possibly could.

 

To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at:  http://lgmd-info.org/spotlight-interviews




Rebecca

04/30/2016  LGMD “Spotlight Interview”

 

NAME:  Rebecca    AGE: 29 years oldLGMD2A - Becc

COUNTRY:  Australia

LGMD Sub-Type:   LGMD2A / Calpainopathy

 

At what age were you diagnosed:

I was diagnosed with LGMD2A when I was 26 years old.

What were your first symptoms:

My first symptoms included:  difficult climbing stairs and inclines as well as not being able to rise without using my hands to me up.

Do you have other family members who have LGMD:

I am the only one out of 4.

What do you find to be the greatest challenges in living with LGMD:

The greatest challenge for me is battling fatigue.  It can become really hard to find a balance between doing too much and not doing enough.  I have found that I’m adapting to change basically every year.  It is also a challenge to not be so hard on myself when I see others doing activities which I can’t do.  It can be challenging to ask for help when I cannot fulfill a task on my own.  Pain – I can’t remember the last time that I woke up and felt no pain, discomfort and feeling fragile.

What is your greatest accomplishment:

My daughter is 10 years old and she is my greatest accomplishment.  I might not be good at some things in life but I can honestly say I’m the best Mum!  She is my life.  And, as she is growing up, she is starting to look after me in more ways than one.

How has LGMD influenced you into becoming the person you are today:

I might be becoming physically weaker in my body but I have become stronger mentally.

What do you want the world to know about LGMD:

That is strips away everything that you know.

I also want them to know about Coalition to Cure Calpain 3 – the organization focused on finding a cure and treatment for LGMD2A.

If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do:

If I was “cured” tomorrow, I would go out with my family with not limits.  I would run around with my daughter and climb 100 stairs.

To read more “LGMD Spotlight Interviews” or to volunteer to be featured in an upcoming interview, please visit our website at:  http://lgmd-info.org/spotlight-interviews