Birds for Sofia Foundation

Today we want to share the guest story of Leon @help.leon.sma.eng @help.leon.sma, a 5-month-old baby boy from Uzbekistan🇺🇿 living with Spinal Muscular Atrophy Type 1 🧬

Although @birdsforsofia programs do not cover SMA/DMD-class medications, we simply could not stand aside when we heard Leon’s story. Solidarity means amplifying every rare voice 🙏

At an age when life is supposed to be about first smiles, Leon’s family received a devastating diagnosis that changed everything: a homozygous deletion of exons 7–8 in the SMN1 gene. #SMAType1 is the most severe and rapidly aggressive form of the disease. Without early treatment, progressive muscle weakness compromises breathing and swallowing early in infancy ❗️

Therefore, since July, Leon has been receiving daily #Risdiplam to slow disease progression. Currently, his motor functions are preserved, but symptoms are already creeping in: Leon breathes through abdomen, and the left side of his chest is beginning to recede. His parents work tirelessly conducting daily chest physiotherapy and using an Ambu bag to keep lungs expanded 🫁

Leon’s biggest hope is a single, one-time dose of gene therapy, Zolgensma by @novartis, which works directly at the genetic level by replacing the primary missing SMN1 gene. Administering Zolgensma before 8 months of age delivers the most profound, life-altering outcomes, allowing children to achieve milestones like sitting, standing, and breathing independently 🦾✨

Because Uzbekistan does not offer a free state access program for gene therapy, Leon’s family is forced to fundraise for commercial Zolgensma on their own. The cost of the therapy is astronomical, far beyond what any family could ever afford alone.

So far, his family has managed to raise 27% of the required total 🆘

Meanwhile, Leon is approaching 6 months old, and the window to deliver this treatment at its peak effectiveness is closing fast.

If you’d like to support Leon directly, follow his journey, donate or share his official Instagram page:

🧬 @help.leon.sma
🧬 @help.leon.sma.eng

Even a small donation, a repost, or sharing his story with your network can help this family race against the clock 🕊️

Thank you!♥️