Name:  Peter

Age:  10

Country:  USA

LGMD Sub-Type:  LGMD 2C/R5 gamma-sarcoglycanopathy

* Completed by Peter’s mother

At what age were you diagnosed?

I was diagnosed at the age of 9. Mom and Dad started noticing worsening muscle weakness that grew to be very concerning, so we took Peter to the PCP for labs to check for a neuromuscular disorder. We found an elevated CK and began our diagnostic journey – genetic testing confirmed LGMD 2C.

What were your first SYMPTOMS?

Early symptoms 6-7 y/o included calf hypertrophy, slight toe-walking, and inability to keep up with peers in age-appropriate sports (ie running bases, hitting baseballs, etc).

Symptoms age 8-9 included difficulty rising from floor using legs to get up, difficulty with stairs, and frequent falls.

Do you have other family members who have LGMD?

Younger sister, 7,  later diagnosed with LGMD 2C. No parental or previous familial history of any dystrophy.

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

Peter has started to exhibit some fatigue getting through the school day, requiring frequent breaks, extra time to get to classes, and some accommodations in classes. The difficulty climbing stairs and walking far distances poses a challenge almost daily.

What is your greatest accomplishment?

Despite being left out of sports teams, and not being able to keep up with peers at times, Peter has established wonderful friendships throughout elementary school. When he started exhibiting symptoms, his friends rallied around him to support and help him. His vast group of friends is a direct result of his kind, affable personality, in fact, most of his friends claim Peter is their “best friend”.

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

Peter is still learning about LGMD. We have discussed his neuromuscular disease with language that is age-appropriate, while being cautious of a 10 year old’s ability to “google” anything. We discuss the importance of physical therapy, stretching and taking rest needed when tired. Peter has been struggling to keep up for the last few years, without complaining or quitting, all the while he was working significantly harder than we knew. Peter is interested in engineering and architecture of planes, aircraft carriers, naval vessels etc. He has dreams of designing and building naval vessels, such as aircraft carriers and destroyers.

What do you want the world to know about LGMD?

We, as a family, would like to spread awareness about LGMD, specifically the sarcoglycans. These inherited, rare, genetic diseases can occur without any warning or family history. The research for LGMD is limited, as are potential treatment options. A common misconception about LGMD is that it can occur later in life, and have “slow progression” – however, the sarcoglycans commonly affect children and can have a rapid disease progression.

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

Peter would definitely like to play baseball with his friends, run around with his brother, and learn how to reel in a giant tuna with Dad!