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

 




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

 




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




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




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




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




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




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




Mary

04/08/2016 – LGMD “Spotlight Interview”

NAME:  Mary   Age: 46LGMD2A - Mary BG

COUNTRY: United States

LGMD Sub-Type: LGMD2A / Calpainopathy

 

At what age were you diagnosed:

I was diagnosed with LGMD when I was 25 years old.

What were your first symptoms:

My first symptoms were being unable to rise from a seated position without placing weight on my arms for support and difficulty in climbing stairs.

Do you have other family members who have LGMD:

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

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

The greatest challenges for me are trying to remain independent with daily activities.  The disease progression is slow but not being able to do what you once were able to do is hard to adjust to.

What is your greatest accomplishment:

My greatest accomplishment was marrying my husband. I became a widow in 2014.  He was one of my greatest supporters.  He inspired me to be the best person I could be.  My family and friends are encouraging and a great support.

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

I take nothing for granted.  Each day is a gift – some better than others.  I became more outgoing once my mobility became limited as I still want to experience and be active in life despite my diagnosis.

What do you want the world to know about LGMD:

LGMD is a muscle wasting disease.

Help those you can, become educated and treat everyone respectfully.

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

If a cure was found tomorrow, I would run, dance and jump!  All the things that I can no longer physically do would be top priorities!

 

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




Laurence

“LGMD SPOTLIGHT INTERVIEW” 01/18/2016

Name:  Laurence    Age: 49LGMD2A - Laurence

Country: France

LGMD Sub-Type: LGMD2A / Calpainopathy

 

At what age were you diagnosed:

I was diagnosed at the age of 42.

What were your first symptoms:

The symptoms that I experienced included:  great fatigue,  difficulties climbing stairs, falling when walking on an uneven ground, and difficulty rising from a seated position.

Do you have other family members who have LGMD:

No, I am the only family member with LGMD2A.

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

The evolution is rather slow but l must be quite careful to have a regular life otherwise it is worse and the evolution is then quicker when I’m tired and the atrophy is stronger.  It’s hard to conciliate it with private or professional activities.

What is your greatest accomplishment:

I try to keep working which is important not to think too much about the disease and keep going.

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

In fighting against pains and physical difficulties, the disease teaches me how to prioritize but also to be conscious that there are always  people who are more ill than yourself so that you must be optimistic.

What do you want the world to know about LGMD:

I want the world to know that LGMD is part of the orphan diseases therefore it is difficult to raise funds necessary to find an efficient treatment.  Itt is important to talk about LGMD  around us but most of all to the medical community and to general practitioners who can help their patients to go to appropriate medical centers. I have a very personal example to illustrate this point —  before being diagnosed, my GP told me that my symptoms were due to a nervous breakdown!!!

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

I would like to walk naturally without a stick and visit the whole world, be able to go abroad with my family, feeling 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




Siri

11/06/2015

NAME:  Siri  AGE:  28 yrs. old

COUNTRY:  Norway

LGMD Sub-Type: LGMD2A / CalpainopathyLGMD2A - Siri

 

At what age were you diagnosed:

I was diagnosed when I was 26 yrs. old.

What were your first symptoms:

I started experience unexplained fatigue at age 16. When I was 19, I noticed that I had trouble putting my

right arm over my head. In my early 20’s my heel cords started to bug me, being super tight. A few years

later I started struggling with stairs and low seats and I could no longer run or jump.

Do you have other family members who have LGMD:

No, I am the only family member with LGMD2A.

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

The everyday tasks people take for granted makes me really frustrated some days. Like getting out of a

chair, turning in bed or tying my shoes – all these little things make me tired and I don’t like wasting

energy on it. But the real struggle is all the extra work it is to have a disability. People don’t see all the

hours I spend doing paperwork getting the things I need and figuring out my rights, physiotherapy, doctor appointments and so on, or all the time I “waste” resting because I have overdone it one day. It is also a challenge to be dependent on other people.

What is your greatest accomplishment:

I completed 6 years in university and got my degree as a teacher. I have also visited many different

countries and hiked in various mountains despite my struggles.

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

It has taught me not to take anything for granted. It has made me more humble and thankful for all the little things in life. It has taught me to slow down and be more patient and to dare ask for help with small tasks.  And to enjoy every day! It has also made me be more creative, because I have to find new ways to do things. And I have made SO many new friends! I love that.

What do you want the world to know about LGMD:

That it actually exists is a good start! And that it affects people in different ways, but to most of us it is

super frustrating/depressing to lose abilities over time. We are always dealing with this, since it is a

progressive disease. It’s an ongoing grief. And that it affects our loved ones too. Be kind, always.

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

I would RUN! And jump all over the place. And I would dance all night long! And I would help my friends move or something, haha 😉

 

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

 




Binh

09/22/2015: 

NAME: Bình  AGE: 30LGMD2A - Binh

Country: Vietnam

LGMD Sub-Type: LGMD2A / Calpainopathy

 

AT WHAT AGE WERE YOU DIAGNOSED:

I was diagnosed with LGMD when I was 14 years old

WHAT WERE YOUR FIRST SYMPTOMS:  

I experienced difficulty in walking, running, and climbing stairs

DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD: 

No, I am the only person in my family with this diagnosis

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

The greatest challenge for me is that I cannot  do some things such as walking and running.  I tried to control my brain to have enough energy to do the activities that I want.

WHAT IS YOUR GREATEST ACCOMPLISHMENT:

One of my biggest achievement is that I have family, friends, and neighbors who encourage me to live a fairly optimistic life.

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

I am ready to face all challenges!

WHAT DO YOU WANT THE WORLD TO KNOW ABOUT LGMD: 

I want the world to know that a cure is needed to treat and cure all the LGMD patients 🙂

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

If I were cure tomorrow, I would run and do everything I never could do!

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




Shelley

09/08/2015

 

Name:    Shelley    AGE:  50LGMD2A - Shelley T

COUNTRY:    Canada

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 walking on my tippy toes and difficulty climbing stairs.

Do you have other family members who have LGMD:

Yes, all of my siblings are affected.  My sister Michele and brother John both have LGMD2A.

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

One of the greatest challenges in my twenties was being physically weaker and unable to have children, childbirth and carrying the child.

It has also been challenging to find meaningful employment despite having a university and college degree.  Employers and employees refusing to understand the needs of having a disability has also been a challenge.

What is your greatest accomplishment:

One of my greatest accomplishments has been writing my memoir about living with LGMD and helping others overcome their diversities.  Graduating from the university was also an accomplishment.

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

I don’t take the things that I can do for granted.  I use my disability to educate others through my memoir and inspirational speaking.

What do you want the world to know about LGMD:

LGMD robs individuals of the strength in their voluntary muscles but does not affect their intellect.   Having a physical disability can be very frustrating, however being judged by others because of a disability can be far worse.

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

I would put on a pair of figure skates and skate for hours.  When I was diagnosed 39 years ago, I had my heel cord tendons elongated (due to the development of contractures) and could no longer skate.  It broke my heart!

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




Martin

08/18/2015

Name: Martin  AGE: 42 yrs. oldLGMD2A - Martin H

Country: United Kingdom

LGMD Sub-Type: LGMD2A / Calpainopathy

 

At what age were you diagnosed:

I was diagnosed when I was 23 years old.

What were your first symptoms:

I had a fall in a garage, dislocated my knee and that wouldn’t repair itself in the time expected.

Do you have other family members who have LGMD:

Yes, my older brother also has LGMD.

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

My greatest challenges are climbing stairs and trying to get people to understand how hard it is to be an ambulant disabled person that is determined to stay on my feet as long as possible. (and wobbles a bit)

What is your greatest accomplishment:

Realizing that I could write about Muscular Dystrophy and people listened too! I’ve gone on to raise awareness and vital funds for research, attending the houses of Parliament, making sports and TV personalities aware of these conditions via social media, being recognized and rewarded by MDUK for all my efforts to raise awareness and funds for research, changing my career to be in a position of helping others, being a dad to three great girls, trying to be a good role model and to stay positive all of the time.

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

Quite ironically I think that LGMD has made me stronger than what I ever thought I would be, I am extremely determined to let everyone know all about these conditions and make life easier for many others in the future.

What do you want the world to know about LGMD:

That it exists would be a good start! It was not until my diagnosis and years later when I started to talk about the condition that it occurred to me that my family, friends and society in general had not heard of ANY type or strain of Muscular Dystrophy and that has to change; it’s imperative that people know about these conditions.

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

To run on a beach as fast as I possibly could (think of the film ‘Chariots of fire’ and to the Vangelis soundtrack too!) and then have the biggest hug with all my girls and my wife.

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




Patricia

07/29/2015:

NAME: Patricia  AGE:  26 yrs oldLGMD2A - Patricia

COUNTRY: United States

LGMD Sub-Type:  LGMD2A / Calpainopathy

 

AT WHAT AGE WERE YOU DIAGNOSED:

I was diagnosed with MD when I was 12 years old.

WHAT WERE YOUR FIRST SYMPTOMS:

First symptoms were toe walking, arms not going straight, limping gait, and not gaining weight.

DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD:

No one in my family has Muscular Dystrophy or LGMD.

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

The greatest challenge is not being able to do certain things such as Walking, Running, Getting out of bed on my own, Bathing on my own, Cooking dinner, Playing with my nephew on the floor. Everything I do is a challenge.

WHAT IS YOUR GREATEST ACCOMPLISHMENT:

Greatest accomplishment would be getting married to a wonderful man and hopefully soon starting a family, also when I got my power chair and was able to cook dinner for the first time in 2 years, and being able to go outside with my husband.

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

It has made me realize that even though I am limited on things I can do, with the right tools I can still do some of those things just in a different way.

WHAT DO YOU WANT THE WORLD TO KNOW ABOUT LGMD:

Educate yourself on LGMD and some of the struggles people go through. Don’t judge someone on how they look. Every form of MD has a different look but that doesn’t make the person. their personality makes the person. If you see someone struggling whether in a wheelchair or walking offer to help, I know for me when someone asks if they can help me I am very grateful for it.

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

I would run as fast as I can down the road and around the block, I would jump up and down and maybe even do flips. I dream of the day I can do this.




Leanne

07/22/2015:

NAME: Leanne AGE: 50 yrs. oldLGMD2A - Leanne
COUNTRY: Australia
LGMD Sub-Type: LGMD2A / Calpainopathy

AT WHAT AGE WERE YOU DIAGNOSED:
I was diagnosed at the age of 42 yrs. old through a muscle biopsy.

WHAT WERE YOUR FIRST SYMPTOMS:
I was losing weight around hips and glutes. Upon diagnosis other things fell into place i.e. greater difficulty getting up from a squat, not feeling energized after Gym work, and not springing up stairs.

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:
Lack of spontaneity in activities especially solo trips i.e. camera “playtime”, shopping .

Having to start asking for things to be done when I am always more comfortable being the helper/doer

Having to reassess and redefine my goals and hopes for the future to fit in with the limitations that exist now and will continue to do so without clear guidelines as to how and when the LMGD will progress due to it’s inconsistent nature

WHAT IS YOUR GREATEST ACCOMPLISHMENT:
I hope that I am a good, caring person in all my relationships and that I have helped instill in my young adult children good morals and values .

HOW HAS LGMD INFLUENCED YOU INTO BECOMING THE PERSON YOU ARE TODAY:
I am definitely more empathetic and in less of a hurry (hahaha) and more accepting that life is not always a “bed of roses”

WHAT DO YOU WANT THE WORLD TO KNOW ABOUT LGMD:
I would like to see it as easily identifiable amongst the public as such conditions as ALS (MND); they’re still fighting for recognition but have an arguably higher profile than MD, Cancer, MS and many others to help people be understanding and educated about the needs required.

IF YOUR LGMD COULD BE “CURED” TOMORROW, WHAT WOULD BE THE FIRST THING THAT YOU WOULD WANT TO DO:
All have equal billing – Go on a big family walk, take my camera to the beach, travel everywhere with no pre-planning, redecorate and garden!!

 




Alicia

04/29/2015

Name:  Alicia

Age:  38 yrs. oldLGMD2A - Alicia

Country: United States

LGMD Sub-Type: LGMD2A / Calpainopathy

 

At what age were you diagnosed:

I was diagnosed at age 35 after years & years of being misdiagnosed.

What were your first symptoms:

Walking & running on my toes and climbing stairs were the first symptoms.

Do you have other family members who have LGMD:  No

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

One of the biggest challenges for me has been finding physicians who are educated when it comes to LGMD and the challenges & symptoms that come along with the disease.  Many doctors didn’t take my issues seriously (muscle pains, loss in strength, problems walking/stairs) or thought I had an autoimmune disease before I found a doctor that finally sent me to the Mayo Clinic. After an EMG, blood tests & a muscle biopsy I was finally diagnosed but it took many years and many doctors to get where I am at.

What is your greatest accomplishment:

Raising two amazing daughters with my husband of 14years has been an accomplishment and a blessing. Teaching them kindness and to be more empathetic towards people since we never really know the struggles of those around us.

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

It has taught be to be kinder, listen more and laugh every day.  Sometimes all you can do is laugh.

What do you want the world to know about LGMD:

That there are currently no treatments or cure for LGMD and if you have a family member or even a friend who has been diagnosed please educate yourself about the disease.  It could mean the world to someone.

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

Dance all night!




Freddy

04/14/2015

NAME:  Freddy   AGE: 49 Yrs. OldLGMD2A - Freddy

COUNTRY:  Denmark

LGMD Sub-Type:   LGMD2A – Calpainopathy

 

AT WHAT AGE WERE YOU DIAGNOSED:

I was initially diagnosed with LGMD at the age of 29 years old.  Around my 34th  birthday I received confirmation of my LGMD2A diagnosis.

WHAT WERE YOUR FIRST SYMPTOMS:

I had a stiff neck when walking and was having problems lifting objects up from the ground. My right arm could not bend.  I was also experiencing fatigue.

DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD:

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

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

I struggle to have enough energy to do the things that I want and need to do during the day.  I try to plan my day in advance so I know what and how to use my energy during the day.  Unexpected things or chores are sometimes a problem.

The long winters are also a challenge.  In the winter I stay indoors as much as possible.  I only go out when I really have to.  My son understands this, but is it not always nice for him that we cannot play outside or spend more time outdoors in the winter.  When there is frost or snow I stay indoor even more because I’m afraid to fall.

Because of the LGMD sometimes I seem to have a short temper…?

WHAT IS YOUR GREATEST ACCOMPLISHMENT:

One of my greatest accomplishments is that I moved from Holland to Denmark 15 years ago.   I have a nice wife and son who is  7 years old (almost 8).  I also have a job where I am able to work 20 hours a week.   (Denmark is trying to help the disabled where they can.)

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

I am still able to walk, and my doctor told me that I will be able to do that forever J, but sometimes I’m a bit unstable and walking “strange”.

I have to plan my days, to plan my energy , if there is something different like an appointment I have to know it days in advance.  Otherwise I take it as it comes, one day at the time.

WHAT DO YOU WANT THE WORLD TO KNOW ABOUT LGMD:

I want the world to know that the disease Limb Girdle Muscular Dystrophy (LGMD) exists and that it is a rare disease.  The form of LGMD that I have – LGMD type 2A – is quite rare!   In Denmark it is estimated that only 6% of LGMD patients are diagnosed with LGMD2A.

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

Running!  It has been many years ago since I have been able to run or since I was stable in my walking.

 




Carol

01/30/2015c1

NAME: Carol

AGE: 53

COUNTRY: United States

LGMD Sub-Type: LGMD 2A / Calpainopathy

AT WHAT AGE WERE YOUR DIAGNOSED:

I was diagnosed with LGMD when I was 9 yrs. old but did not receive genetic confirmation of LGMD2A until I was 51 yrs. old

WHAT WERE YOUR FIRST SYMPTOMS:

As a child, I had a tendency to walk on my toes. By the time I was 9 yrs. old, I could no longer get my heels onto the ground when standing due to contractures. I began to develop somewhat of a “waddling” gait and was also experiencing difficulty in running and climbing stairs.

DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD:

No, I am the only one that we are aware of.

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

Continually dealing with the on-going progression of this disease is always a challenge. One of the greatest challenges though is to be dependent on others for most activities of daily living. I need someone to help me get dressed, to go to the washroom, to bathe, etc. It is very difficult to lose your independence!

WHAT IS YOUR GREATEST ACCOMPLISHMENT:

I was named the 2000-2001 Rehab Institute of Chicago (RIC) “Female Disabled Water Skier of the Year”. But in all honesty, my greatest accomplishment is living a productive and active lifestyle despite the challenges that I encounter on a daily basis due to my LGMD diagnosis. I worked for 20+ years as a registered occupational therapist (OTR), I am happily married and I am very involved in my church & community.

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

LGMD has made me stronger as a person despite causing me to be physically weaker. Living with LGMD has help me to realize & accept the fact that everyone has challenges in their life. Unfortunately, my LGMD is more apparent or visible…but it has also helped me to realize that we all have special gifts or qualities that more than make up for the challenges. I’ve learned the importance of focusing on & appreciating the things that I CAN do versus dwelling on the things in which I cannot. It has also enabled me to find the blessings in my life and to appreciate even the smallest of gifts. Through this all, I have become an advocate and role model to many who struggle with a disability or challenge in their life…and it is in part due to my LGMD.

WHAT DO YOU WANT THE WORLD TO KNOW ABOUT LGMD:

Currently there is NO treatment or cure for LGMD. The unrelenting nature of this rare disease just keeps on making us weaker and weaker….even when you think it is impossible to get any weaker! Historically, LGMD attracts significantly fewer research dollars than other forms of muscular dystrophy & thus fewer researchers working to understand the disease & discover a cure. This has to change!  We need more funding and more research to help discover a cure and treatment for all forms of LGMD.

IF YOUR  LGMD COULD BE “CURED” TOMORROW, WHAT WOULD BE THE FIRST THING THAT YOU WOULD WANT TO DO: I would want to run up to my husband and wrap my arms tightly around him to give him a huge hug! Then, go running on a sandy beach.




Andrew

01/24/2015:

 NAME: Andrew     LGMD2A - Andy

AGE: 34

COUNTRY: United Kingdom

LGMD Sub-Type: LGMD 2A / Calpainopathy

AT WHAT AGE WHERE YOU DIAGNOSED: 18 yrs. old

WHAT WERE YOUR FIRST SYMPTOMS:
I would fall over when trying to run & also struggling standing up from a chair or the ground.

DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD:
No , I’m the only one, no history on either parents side of the family.

WHAT DO YOU FIND TO BE THE GREATEST CHALLENGES IN LIVING WITH LGMD:
As a full time electric wheelchair user the biggest challenge I face is using the toilet. Being sat down so much I find I suffer from IBS from time to time and being unable to stand to transfer onto & off the toilet it makes traveling a bit of a challenge. Traveling by airplane is also very challenging.

We have an 18 month old baby (our first) & at the moment my biggest challenge is being a good dad, especially when I can’t lift him up or get on the floor & play cars with him.

Having to rely on family & friends for simple DIY things such as putting up a curtain or a shelf. Getting used to having caregivers come into the family to help out

Feeling you should be able to help family & friends when they are going through tough situations (or just simply popping round for a cup of tea or helping people when they move house etc.).

WHAT IS YOUR GREATEST ACCOMPLISHMENT:
Getting married and starting a family. Finding the right balance between work and home life. Developing a small student accommodation rental business. Becoming Managing Director of the family business (although this is far from accomplished as I’ve got great plans to take the business to new heights). Completing a Masters and PhD degrees.

HOW HAS LGMD INFLUENCED YOU INTO BECOMING THE PERSON YOU ARE TODAY:
It has taught me to be patient and if I focus my energies on something anything is possible. A well placed smile goes a long way and opens many doors (literally). You have to be positive and not dwell on what’s not possible but concentrate on what you can do , “where there is a will there is a way.”

WHAT DO YOU WANT THE WORLD TO KNOW ABOUT LGMD:
Not to take their health for granted , if they see someone struggling , be they disabled or simply old ask if they can help. Put their own problems into perspective and not moan about things that are insignificant.

IF YOUR LGMD COULD BE “CURED” TOMORROW, WHAT WOULD BE THE FIRST THING THAT YOU WOULD WANT TO DO:
I like to think I would drive down to a beach , take my shoes off , walk at first and then run over the sand , go for a swim in the sea and then relax on the beach. Lay down on the grass in the sunshine on a warm summers day. In reality I would probably just sit down and then stand up and then sit down and stand up over and over because I could. It would be great to go skiing again and maybe scuba diving but really it would just be nice to be able to clean the house so my wife can take the weekend off while I shop , cook and generally spoil her.

It’s a dream which I believe will be a reality for us one day but in the meantime I’m not holding my breath letting life pass me by , now is the time to achieve things despite the disability.




Jessica

01/18/2015:

NAME: Jessica   LGMD2A - Jessica

AGE: 31

COUNTRY: United States

LGMD Sub-Type: LGMD2A / Calpainopathy


AT WHAT AGE WERE YOU DIAGNOSED:
 I was diagnosed with Limb Girdle Muscular Dystrophy at the age of 12, but I was not sub-typed with 2A until around age 25.

WHAT WERE YOUR FIRST SYMPTOMS:
I exhibited some toe-walking from my very first steps, but my parents were told that I would outgrow it. It became harder to stand and walk flat over time, but I did not exhibit any other symptoms until around age 8 when I began to have some difficulty walking up stairs, running and doing activity in gym class, and getting up off of the floor.

DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD:
No, I am the only person in my family known to live with a form of Muscular Dystrophy.

WHAT DO YOU FIND TO BE THE GREATEST CHALLENGES IN LIVING WITH LGMD:
I am thankful that there are many aspects of living with LGMD that, by the grace of God, I have come to accept and adjust to over time, but one aspect that I still struggle with is the desire for greater independence and the extent to which I must rely upon others for help and to accomplish normal everyday tasks. The desire and inability to accomplish tasks is like having an itch that you can’t scratch. It often requires a great deal of patience, which I tend to struggle with. To complicate things, add in to the mix the guilt that one can sometimes feel. There is both the reality of one’s own constant need for help from others and the reality that those serving in a caregiving role have needs, desires, agendas and limitations of their own that I must be mindful and understanding of.

WHAT IS YOUR GREATEST ACCOMPLISHMENT:
My greatest accomplishment is the completion of my doctorate program and receiving my Psy.D. in Clinical Psychology.

HOW HAS LGMD INFLUENCED YOU INTO BECOMING THE PERSON YOU ARE TODAY:
God has used my living with MD for good, in many ways. He used it to show me my need for Him, which changed my entire life. I now have a lasting peace and joy despite my circumstances. “The weaker we feel, the harder we lean. And the harder we lean, the stronger we grow spiritually, even while our bodies waste away.” (J.I. Packer) God has shown me many other blessings through it. I have become creative in problem solving and learned to adapt to changes. It shifted my focus, as I got older, from physical activity to deepening relationships, exploring art, and working especially hard on my academics. I have made life-long friendships with so many special people who have disabilities. It also directed my educational and career pursuits towards hoping to aid others in coping with disability in healthy ways.

WHAT DO YOU WANT THE WORLD TO KNOW ABOUT LGMD: LGMD is a group of disorders primarily affecting the shoulder and pelvic girdle muscles. There are more than 20 different subtypes of LGMD that have been identified. LGMD may look different depending on various factors, including things like the specific genetic mutation(s), age of onset, rate of progression, etc. You may not even be able to tell that someone has LGMD. You may see another person and think they just walk differently or slower. Another person may need to make use of a wheelchair full time. Even two people with the same exact subtype can present entirely differently. Try not to make assumptions, especially just based on what you see. Most importantly, I want the world to know that LGMD is not a punishment or reason for pity or a reason to believe that someone’s life is any less valuable or joyful. God can and does use difficult experiences, trials, and suffering

IF YOUR LGMD COULD BE “CURED” TOMORROW, WHAT WOULD BE THE FIRST THING THAT YOU WOULD WANT TO DO: I would want to pick up my son and walk around holding him closely. I would want to dance with my husband and share in some sort of outdoorsy/sporty/exercise activity with him. I would want to run, jump, and skip…and praise God for it all!

 




Irina

01/12/2015:

NAME: Irina  LGMD2A - Irina

AGE: 18

COUNTRY: France

LGMD Sub-Type: LGMD 2A / Calpainopathy

AT WHAT AGE WERE YOU DIAGNOSED: When I was 14 years old.

WHAT WERE YOUR FIRST SYMPTOMS:
The first symptom that I experienced was having difficulty running.

DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD: No.
WHAT DO YOU FIND TO BE THE GREATEST CHALLENGES IN LIVING WITH LGMD:
Stairs…there are just so many of them! Also, not knowing if people feel sympathy or just pity.

WHAT IS YOUR GREATEST ACCOMPLISHMENT:
I was able to get to the top of the Cathedral Santa Maria del Fiore famously known as “The Duomo” in Italy. It has 465 grueling steps to the top! But better than that, the greatest accomplishment of mine is to stay happy and keep smiling no matter what.

HOW HAS LGMD INFLUENCED YOU INTO BECOMING THE PERSON YOU ARE TODAY:
Knowing that I have LGMD has made me grow up or to be more mature for my age. I have become calm and relaxed by not letting the little things bother me. I also find that I worry less – only about what is important. I don’t have time to worry about trifles.

WHAT DO YOU WANT THE WORLD TO KNOW ABOUT LGMD:
I want people to know that the disease of LGMD exists! That just because someone has trouble running – don’t call them lazy. Also, if a girl uses a walking stick it is probably because she needs it – it is not about looking good!

IF YOUR LGMD COULD BE “CURED” TOMORROW, WHAT WOULD BE THE FIRST THING THAT YOU WOULD WANT TO DO:
To run after the bus that I just missed!




Martijn

01/06/2015:

NAME: Martijn LGMD2A - Martijn   

AGE: 23

COUNTRY: The Netherlands

LGMD Sub-Type: LGMD 2A / Calpainopathy

AT WHAT AGE WERE YOU DIAGNOSED:  Approximately around my 15th birthday.

WHAT WERE YOUR FIRST SYMPTOMS:
The first symptoms were visible since I was a baby. I used to creep like a crab and I was physically ‘different’ from my peers. I was active in a number of different sports, such as: gymnastics, volleyball, judo and tennis. But my performance was declining due to the on-going progression of muscle weakness in my body.

DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD:   No.

WHAT DO YOU FIND TO BE THE GREATEST CHALLENGES IN LIVING WITH LGMD:
The more practical problems are worse to me. For example walking by my own on the street with crooked sidewalk tiles is quite challenging. It requires a lot of attention and I get tired of this. In most cases I decide to use a wheelchair if I have to walk long distances. Also, explaining my muscle disease to strangers is not my favorite hobby. I am a little bit unsure on how much information I should provide. Some of them are asking about the ‘whole process’ and the more personal things. And some others feel frightened to ask me about any details. Talking about my disease is not a problem for me, but determining how much information to share is the challenge.

WHAT IS YOUR GREATEST ACCOMPLISHMENT:
Do you have a few seconds? One of my greatest accomplishes are skydiving, studying and doing everything that healthy people consider as ‘not possible’ for disabled people. I do like to cross the borders in my live. I am always looking for adventures, like traveling with friends (actually we scheduled a trip to Iceland in February 2015) and so on. Besides that, a personal accomplishment to me is a presentation about my muscle disease and the way I am dealing with the disease to about 500 medical students.

HOW HAS LGMD INFLUENCED YOU INTO BECOMING THE PERSON YOU ARE TODAY:
LGMD has influenced my life for sure! It has made me more mature in many ways. The way I handle problems and enjoy my life has significantly changed since my diagnosis.

WHAT DO YOU WANT THE WORLD TO KNOW ABOUT LGMD:
People with LGMD or any other muscular disease are not different from healthy people, they just may need a little assistance, at times. Also, do not talk to the person behind the wheelchair, but speak directly to the person in the wheelchair.

IF YOUR LGMD COULD BE “CURED” TOMORROW, WHAT WOULD BE THE FIRST THING THAT YOU WOULD WANT TO DO:
I would want to go Sky Diving solo!