Samy’s Story
Samy’s Journey
Hope for Samy Foundation began with one family’s lived experience.
Our son Samy was diagnosed with a rare pediatric neuromuscular disease, changing our lives forever and revealing the profound challenges families face when navigating rare disease care.
What began as a fight for our child became a mission to create hope, awareness, and support for others facing similar barriers.
Samy’s journey remains the heart of our foundation.
This is not the story we planned to tell.
But it's the one that chose us.
It started with a febrile seizure
In May 2024, Samy was nine months old. He had a fever, the kind parents manage at home with Tylenol and patience. Then the febrile seizure came. Then another, within hours. We rushed him to the emergency room twice in one day.
His creatine kinase was over 15,000. Normal is under 200. Something else was wrong inside our son's body, and nobody knew what.
Months of uncertainty
What followed were months of tests, waiting, and uncertainty. Samy’s CK levels remained high. A first test for Duchenne muscular dystrophy came back negative—bringing brief relief, but even more questions.
A broader genetic panel later identified two pathogenic variants in the SGCG gene, pointing to LGMD2C/R5. More tests followed. More waiting. Meanwhile, we watched our little boy grow under the weight of an invisible clock.
Samy was running, saying “daddy,” and trying to play like any child, but we noticed the small signs: difficulty climbing, trouble lifting his legs, tiring faster, and milestones that didn’t come as expected.
A life-changing Diagnosis-June 20, 2025
The diagnosis was confirmed: LGMD2C/R5, a rare genetic muscle disease caused by mutations in the SGCG gene, one inherited from each of us, making Samy one in four. Then came the words no parent is prepared for: “There is nothing we can do. Go home. Enjoy the time while he’s still walking”.
We refused to accept them.
Within months, we had connected with neuromuscular disease specialists at Virginia Commonwealth University, established contact with the international research community studying LGMD R5/2C, and incorporated a federally recognized charitable foundation.
Samy is enrolled in a natural history study — the clinical step that creates a pathway toward gene therapy trial eligibility. He is running. He is talking. He is two years old, and he does not know yet what we are building for him.
His story is not finished. Neither is this fight.