Age: 6 years old
Country: United States
LGMD Sub-Type: LGMD2D / R3
* * * Completed by Jacob’s parents, Josh & Rachel
At what age were you diagnosed?
Jacob was diagnosed with LGMD2D / R3 when he was 5 years old.
What were your first symptoms?
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.
Do you have other family members who have LGMD?
We do not have any other family members who have LGMD or other forms of muscular dystrophy.
What do you find to be the greatest challenges in living with LGMD?
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.
What is your greatest accomplishment?
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”.
How has LGMD influenced you into becoming the person you are today?
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.
What do you want the world to know about LGMD?
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.
If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do?
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.