Brad

09/30/2015:

Name:  Brad  Age: 51 yrs. oldLGMD2B - Brad

Country: United States

LGMD Sub-Type: LGMD2B/Miyoshi Myopathy

 

At what age were you diagnosed:

I first started having symptoms at 18. But it wasn’t until about 10 years later that a neurologist told me I had Miyoshi.  Then I had to wait another 10 years for the gene to be discovered before there was a way to confirm that that was what I have.

What were your first symptoms:

I couldn’t stand on my toes, initially just on one side.

Do you have other family members who have LGMD:

No

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

That there is a lot more planning involved in scheduling any activity.  A lot of everyday activities (travelling, shopping, going to a restaurant) involve a lot more things that have to be paid attention to.

What is your greatest accomplishment:

In 2000 I put together a website about dysferlin (the gene for my LGMD subtype).  I didn’t know anything about web design, but I wanted other patients to have a source of information about the disease and what research was going on.  Through that, I was contacted by the Jain family after one of their children was diagnosed—they later started the Jain Foundation, which supports research on my subtype.  In 2007 the Jain Foundation organized first research conference on dysferlin.  I kept pinching myself the entire time thinking that this couldn’t be real—there was actually a conference dedicated to this disease!

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

I think it has made me more considerate and aware of others.  I was always very independent when I was young, but needing help with some things, and also wanting to work with others to find cures for LGMDs, has taught me the importance of asking for help when you need it, offering help when you can, and working together.

What do you want the world to know about LGMD:

First, that it exists.  I think a lot of people have the idea that MD only affects young boys, or at least children.  I did before I started having symptoms.  I want them to know that there are many different types of MD, and that symptoms can start at any age.

Secondly, I think society tends to view disability as a black and white thing.  That is, one is either disabled and may need help, or they are completely fine and don’t.   But for a condition like LGMD where symptoms often progress slowly, when exactly does one become disabled?  I think the way things are set up often discourages people who are able and who want to work from doing so, and from doing all they can with their lives

I want other patients to know that they aren’t alone.  When I was in grad school, I was extremely worried about my MD (which wasn’t really diagnosed), but I didn’t feel like I could share that with anyone.  Many years later, I met another patient who also has LGMD, who was in grad school at the same university at the same time as me!  Even though LGMD is a rare disease, there are other people out there and it’s good to connect with them.

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

Either go ice skating or skiing.  Before I started having symptoms I was a competitive figure skater, and it would be really nice to be able to do that again.  I also did a lot of skiing when I was younger, and loved it.

 

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




Katsuya

09/28/2015:

NAME:  Katsuya   AGE: 45 yrs. oldLGMD2B - Katsuya

COUNTRY: Japan

LGMD Sub-Type:  LGMD2B / MMD (Dysferlinopathy)

 

At what age were you diagnosed:

I was diagnosed at the age of 24.

What were your first symptoms:

I was not able to jump.

Do you have other family members who have LGMD:

Yes

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

It is to support a researcher.

What is your greatest accomplishment:

I have established PADJ (Patients Association for Dysferlinopathy Japan) which was established for the communication between Japanese and international patients with dysferlinopathy (Miyoshi myopathy, Miyoshi muscular dystrophy 1 (MMD1) and limb-girdle muscular dystrophy type 2B (LGMB2B), development of early treatment for dysferlinopathy aimed at a complete cure.

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

I had to change a dream.  It was a very difficult problem.  However, I was able to meet the friend who was in the world.

What do you want the world to know about LGMD:

The dysferlinopathy (MMD/LSMD2B/ DACM)) is a rare disease.  I do not know the exact number of dysferlinopathy patients in Japan.

It is a form of LGMD.  Let’s do our best together.

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

I want to celebrate with family and 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




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




Gitika & Gopika

09/17/2015

NAME:  Gitika & Gopika   AGE:   38 yrs oldLGMD2B - Gitika Gopika

COUNTRY:  India

LGMD Sub-Type (if known):  LGMD2B

At what age were you diagnosed:

We were diagnosed at the age of 21 yrs.

What were your first symptoms:

Our first symptoms included difficulty standing on our toes and needing to hold onto a handrails after ascending 2 floors.

Do you have other family members who have LGMD:

We are a set of identical twins suffering from Limb Girdle Muscular Dystrophy.  There is no family history within the past 5 generations.

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

Our greatest challenge is to overcome our gears, growing with this progressive disease and remaining positive.  Gitika had to quit he successful career and become a homemaker.  Gopika still continues running her tutorials at and education center.  She use to teach senior classes in a reputed school earlier.

What is your greatest accomplishment:

Our greatest accomplishment has been to come to terms with living this disease and working around our daily chores with continued enthusiasm – in spite of several of several let downs.

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

We both have become more tolerant of people and situations, as we have to let go of our inhibitions and ask for support several times.

What do you want the world to know about LGMD:

Often, in the absence of any external visual feedback, it becomes difficult for people to comprehend the level of disability (unless using a power wheelchair) with this disease.  We want the world to be equally passionate about LGMD patients and provide some benefits as given to other disease sufferers.

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

Gitika would like to resume her career and go on a beach destination.

Gopika wishes to run on a treadmill and resume exercising at the gym.

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