이름:  Jacob

나이:      6 years old

국가: 미국

LGMD 하위 유형:  LGMD2D / R3

* * * Completed by Jacob’s parents, Josh & Rachel

몇 살에 진단받으셨나요??

Jacob was diagnosed with LGMD2D / R3 when he was 5 years old.

 첫 증상은 어떤 것이었나요?

We discovered Jacob’s diagnosis after a case of rhabdomyolysis during the summer of 2021. His main symptoms today are occasional rhabdo-like signals including dark urine and his legs beginning to hurt when too active without significant hydration.

 다른 가족 중에 LGMD를 앓고 있는 사람이 있나요?

We do not have any other family members who have LGMD or other forms of muscular dystrophy.

LGMD와 함께 생활하면서 가장 어려운 점은 무엇인가요??

The constant worry of Jacob’s progression over time while we wait for a much-needed treatment or cure, and not knowing when that treatment or cure will be. We need to constantly remind Jacob how important staying hydrated is daily; he drinks about 48 oz of water a day since the initial rhabdomyolysis incident. That is a lot for anyone, let alone a 6-year-old! We also don’t allow Jacob to play in team sports at this time based on doctors’ recommendation and fear of straining his muscles and accelerating his progression. He is at the age where all his friends are playing on sports teams throughout the year. That sense of comradery, sportsmanship and togetherness with peers is critical at this age and as he grows. It’s heartbreaking as parents to watch your child face these struggles.

가장 큰 성과는 무엇인가요?

Jacob’s current greatest accomplishment is that he doesn’t give up. He is a strong, smart, and determined young boy who is always trying his best and works his hardest. He takes pride in this being one of his strongest traits and likes to describe himself as “fierce”.

LGMD가 지금의 자신을 만드는 데 어떤 영향을 미쳤나요?

LGMD has influenced Jacob since his diagnosis. He is more mindful of listening to his body when it needs a rest. He isn’t afraid to ask his teachers for a break if he needs one, especially in physical education and recess. His teachers have made comments to us on how proud and impressed they are that he does this at such a young age.

For us as his parents, we have a new drive and purpose: to help the entire LGMD community, including Jacob, get the treatments each patient needs and deserve. We have become advocates to help raise awareness of this rare disease and are dedicated to helping the community however we can.

LGMD에 대해 전 세계에 알리고 싶은 내용?

We want the world to know that LGMD is a critical, rare disease that desperately needs treatments and a cure as quickly as possible. This disease progresses worse over time, so time is of the essence. Awareness of this disease is key to driving this mission forward. The more people learn about it, and its criticality, will help lead to more research and clinical trials. Our loved ones need treatment options just like others who have rare and non-rare diseases.

내일 LGMD가 "완치"될 수 있다면 가장 먼저 하고 싶은 일은 무엇인가요??

Jacob wishes he could play basketball on a local team. If he was cured tomorrow, he’d want to play team sports without having to worry about excessive water intake, having his legs hurt for being too active or another case of rhabdomyolysis.