Eva

03/31/2015

Name:  Eva    Age: 33 Yrs. OldUnknown - Eva

Country:  Kenya

LGMD Sub-Type :  Unknown

AT WHAT AGE WERE YOU DIAGNOSED: 

I was diagnosed at the age of 14.

WHAT WERE YOUR FIRST SYMPTOMS:

I had difficulty running fast and raising my hand up with ease. I was never able also to bend and sweep the floor properly when it came to doing house chores.

DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD:

No. I am the only one with muscular dystrophy in our family.

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

My muscles are getting weaker by the day and that means my level of dependency is also increasing. It’s hard for me to keep a personal caregiver because most of them do not have the heart, they start complaining just weeks after being employed. I am grateful for the support I get from my husband and relatives who show up to keep my house clean and assist in any way possible.

WHAT IS YOUR GREATEST ACCOMPLISHMENT:

Getting married and starting a family with my husband,  Creating awareness about Muscular Dystrophy in Kenya. Many people are now aware of the condition and are glad to have started because I have met more people in the country with the same condition through Muscular Dystrophy Awareness of Kenya and hoping still to do more.

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

Because of  LGMD I think I have to plan my days in advance, I cannot just wake up in the morning and say, today am going out simply because transport has to be arranged, I must have an escort e.t.c. I am also very optimistic of the future and my life is influenced much with my Christian beliefs.

WHAT DO YOU WANT THE WORLD TO KNOW ABOUT LGMD:

A diagnosis of LGMD  is not a death sentence, you can live your life to the fullest doing what you can at the time. LGMD weakens your muscles but it shouldn’t weaken your spirit. People living with LGMD can work and employers should not shy away from employing us. With the research work going on, plus the trials a cure for muscular dystrophy is in the horizon, I hope it gets here sooner.  

IF YOUR LGMD COULD BE “CURED” TOMORROW, WHAT WOULD BE THE FIRST THING THAT YOU WOULD WANT TO DO:
I would kneel down, raise my hands towards heaven and worship my God.




Naveen

03/27/2015

Name:  Naveen  Age: 32 yrs. oldUnknown - Naveen

COUNTRY: India

LGMD Sub-Type:  Unknown

 

At what age were you diagnosed:

I was diagnosed at the age of 15.

What were your first symptoms:

I was experiencing difficult in running and had frequent falls.

Do you have other family members who have LGMD: 

No, I am the only one.

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

My greatest challenges are in climbing stairs, walking in crowded places and lower clothing.

What is your greatest accomplishment:

My greatest accomplishment is riding my bike.

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

I am ready to face any challenge!

What do you want the world to know about LGMD:

I want Support from the world.

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

I would want to go running.




Jane

03/22/2015

NAME:  Jane   AGE: 61Unknown - Jane

COUNTRY: United States

LGMD Sub-Type: unknown

AT WHAT AGE WERE YOU DIAGNOSED?

I was “officially” diagnosed at age 46 but I had symptoms in my late 30’s.

WHAT WERE YOUR FIRST SYMPTOMS?

I was the kid who was never “good at gym.” Looking back I may have had some clues earlier in my adult life but it wasn’t until I was in my 30’s that I realized I couldn’t get up from the floor (or from a squat). 

DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD?

My father had LGMD. He passed away in 2001.  (My Dad also had a late onset but he had a pretty fast progression. Sadly he passed before genetic testing was available.)

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

My progression has been slow and I am still walking but I can no longer walk long distances without supports. Stairs are very challenging for me and I can’t rise from chairs without assistance. For me the most challenging thing is the lack of understanding and the many misconceptions people have about LGMD. I also find the lack of accessibility to buildings and events very challenging. I still want to be with people and do what they are doing but there are sometimes when that isn’t possible because of access issues.

WHAT IS YOUR GREATEST ACCOMPLISHMENT?

I’ve raised three wonderful children who are all successful and loving adults and I have four amazing grandkids. I learned to ride horses at age 50 and took several vacations where I went on long vacation rides with my family. In 2009 I was named “Student of the Year” by the American Riding Instructors Association (ARIA)

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

 Living with LGMD has made me a more empathetic person. I know that just because you can’t see it on the outside does not mean people are not struggling on the inside. I try to regard others the way I want them to regard me.

WHAT DO YOU WANT THE WORLD TO KNOW ABOUT LGMD?

 Our knowledge of this disease is expanding exponentially. Everyday we learn more about the genetic causes and I believe with more research support and social awareness we will find the cure.

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

 Go out dancing.




Donavon

03/12/2015:

Name: Donavon  Age: 52LGMD2D - Donavon

Country: United States

LGMD Sub-Type: LGMD2D

At what age were you diagnosed:

I was diagnosed at the age of 16

What were your first symptoms:

I was never able to run very fast and had problems running up stairs. We lived on a farm part of the time and when it came to doing chores I wasn’t able to lift a full bag of feed.

Do you have other family members who have LGMD:

Yes, I have four sisters and two nieces with LGMD.

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

All the help that I have needed over the years and it continues to be more each year. I am very thankful for my great wife and the great friends that have helped me over the years. My sister Monica passed away in 2012 from complications from LGMD, so that is in the back of my mind knowing I am getting weaker.

What is your greatest accomplishment:

Being the first person to ever have gene therapy done for Muscular Dystrophy. I called a doctor monthly after my gene defect was identified and when they were starting the first trial I volunteered. The gene therapy opened a lot of opportunities for me as I testified in the United States Senate. I helped lobby the first MD Care Act in Washington DC. I also served on an oversight committee at the National Institutes of Health for six years.

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

Because of my LGMD I think I have had to fight harder for jobs … some people hear I have Muscular Dystrophy or see me in a wheel chair and think I’m not able to doing anything. As a result I’ve developed a very determined and optimistic approach in many aspects of my life. I see other people that are disabled differently since I know some of the struggles they deal with on a daily basis. I’m thankful that I am a Christian as someday, if there isn’t a cure while I am alive, there will not be any diseases in Heaven.

What do you want the world to know about LGMD:

I believe we are very close to a treatment or a cure. I was involved in the first gene therapy trial back in 1999 and I am very excited to see this next gene therapy trial get started where they will be using the blood system to deliver the new vector.

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

Driving a car or pickup instead of driving a van. Someday I would like to have another Pontiac GTO.




Nikita

03/06/2015:

Name: Nikita    Age: 27 Yrs.Unknown - Nikita

Country: India

LGMD Sub-Type:  unknown

At what age were you diagnosed:

Symptoms since I was 21Yrs

What were your first symptoms:

Tripping while running , tiredness on climbing for long.

Do you have other family members who have LGMD:   No

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

Currently I can walk , but I need support for climbing upstairs, also I cannot get up from ground level on my own now.  So, stairs, high slopes and getting up from flat ground are my greatest challenges currently.  But as this issue will progress, I feel my real issue will be depending on others for help.  As I am a very independent person and I resist taking help as much as I can.  My challenges will become physical and mental both.

What is your greatest accomplishment:

LGMD has made me stronger in a lot of ways, mentally mostly. I now see how a few things can be done in different ways rather than the usual normal ways. I took some time to accept this change, but I think it makes me more confident and practical in life.  It was a small incident that I wouldn’t be able to forget. It was a trip with friends and they wanted to go river rafting, I wanted to ditch them as I wasn’t sure how I would get in, get out and climb up d hill. My friends pushed me hard and said a funny thing… If you drop we are 5 to pick you up, you aren’t that heavy, brought a smile to my face and I went for it. I not only did rafting, but I went down in the cold water of Ganges and had the best experience. When the rafting was over, we had a hill to climb up, I used the paddles to get up and slowly I was there. One of my friend said….. Proud of you and everyone clapped. My confidence level grew 10 times!

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

As I mentioned above, I have become more matured, strong and now I see that life is not what we always expect it to be. Things go terribly wrong and we need to put efforts to still keep moving and smiling. Be thankful for what we have and not crib about petty issues.

What do you want the world to know about LGMD:

The biggest issue in my country would be lack of disable friendly zones , we are a developing nation and we do not have right amenities for handling disabilities. It’s not only the infrastructure but also the perception that people have about disabled. Generally people would sympathize and assume that we have to be dependent on someone throughout our lives. I would want that to change. I would want people to accept me for what I am and instead of sympathizing just treat me as a normal person.

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

I would run a mile 😀 , climb upstairs every day and keep myself fit to not ruin my health with any other disease to come.  And yes….. Dance till I drop 😀




Julianna

03/01/2015:

NAME: Julianna AGE: 24LGMD2B - Julianna
COUNTRY: United States
LGMD Sub-Type: LGMD2B

AT WHAT AGE WERE YOU DIAGNOSED:
I started having symptoms at the age of 16 but was not diagnosed until I was about 22 years old.

WHAT WERE YOUR FIRST SYMPTOMS:
My first symptom was tight tendons. My doctor sent me to physical therapy but that did not help much. After that, we found it might be best to have my Achilles tendons lengthened. I had surgery and was in a cast for two months on each leg, one at a time. While recovering and beginning in physical therapy again, my physical therapist noticed that I was not gaining any of my strength back. He sent me to a neurologist for further testing.

DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD: no

WHAT DO YOU FIND TO BE THE GREATEST CHALLENGES IN LIVING WITH LGMD:
I find that the greatest challenge in living with LGMD is that people have a hard time understanding it. It is not easy to describe LGMD to someone. Many people think that I am exaggerating or even lying about having this disease. I am still mobile therefore they do not think I have any challenges. I wish people would be more open to learning about these diseases and understanding how difficult it is.

WHAT IS YOUR GREATEST ACCOMPLISHMENT:
My greatest accomplishment was graduating from college. I was juggling school work with medical testing’s that I was having done. It was difficult to keep up with at times but I managed to pull through and become involved in school organizations. I joined Gamma Sigma Sigma( a service sorority) and I was events council chair of the United Students Government. I had the opportunity to plan events such as a prestigious speaker and a concert. Limb Girdle did not stop me from going after what I truly wanted. Walking across that stage with that diploma in hand was a feeling that I will never forget.

HOW HAS LGMD INFLUENCED YOU INTO BECOMING THE PERSON YOU ARE TODAY:
LGMD has taught me to be more understanding of others and their stories. Everyone has a story we do not know. It has also taught me a lot about myself. I have learned what I can accomplish despite minor setbacks. A sense of humor is definitely a must in getting through the hard times. I have learned to be patient and accept the fact that everyone needs a helping hand!

WHAT DO YOU WANT THE WORLD TO KNOW ABOUT LGMD:
I want people to know that just because you cannot see it, doesn’t mean it is not there! Try to be patient and understanding of people who explain this disease to you. It is just as hard for us to explain as it is for you to understand.

IF YOUR LGMD COULD BE “CURED” TOMORROW, WHAT WOULD BE THE FIRST THING THAT YOU WOULD WANT TO DO:
The first thing I would want to do is travel without all the difficulties involved. I would want to go to the beach and swim without needing help. It would be nice to be able to go where I want without having to plan every little detail ahead of time; just not worry and have a good time!