Save Ismagil

Meet Ismagil—a smart, joyful two-year-old with an affectionate smile and light-golden curls ✨. He loves macaroni, drawing silly pictures 🎨, nighttime stories, and his big yellow truck🚚.

Before Ismagil was born, his father, Karim, had carrier testing for MLD, a rare genetic condition that runs in the family, and was told he was negative. The chance that his future wife would also carry a pathogenic ARSA variant—and that their child would inherit both—seemed nearly impossible. But their son’s diagnosis told the real story: the prior “negative” was false. A few months ago, Ismagil was diagnosed with MLD 🧬.

Ismagil was diagnosed early enough and is still symptom-free ✅.

MLD treatment exists only for asymptomatic patients ⏳.

What is MLD? 🧠
Metachromatic leukodystrophy (MLD) is a rare neurodegenerative disease. A mutation in the ARSA gene 🧬 leaves the body without a key enzyme; sulfatides build up and damage myelin, the protective nerve coating. Untreated, children lose motor function 🦵, then the ability to breathe 🫁, and often die before age 8–10.

The hope: gene therapy 🧬.
Doctors take a child’s own stem cells, add a healthy ARSA gene in the lab 🧪, and give the cells back so the body can make the missing enzyme. It works best before symptoms begin—the window we have for Ismagil ⏰.

He’s also fortunate that scientists in China 🇨🇳 are recruiting asymptomatic patients for a clinical trial 🧪. The family has connected with Prof. Qizhou Lian at Guangzhou Children’s Hospital 🏥 and has already flown ✈️ for preliminary exams before the hematopoietic stem-cell (bone marrow) transplant. His treatment date is reserved for late October 2025 📅.

What’s needed now 💸
$200,000 — manufacture of the personalized gene vector 🧬
$100,000 — transplant and related medical care 🏥

We must act quickly ⏳ so treatment starts before symptoms appear.

How to help Ismagil 🙌
Donate whatever you can—every dollar counts 💵 since every day matters with MLD ⏰.
Share this page with a sentence about why you gave—your words multiply hope 📣.

By helping Ismagil, you can be part of real science 🔬. About 1 in 100 people carry an MLD-related ARSA gene mutation. Ismagil is among the first children to receive this therapy; his case helps pave the way for future kids with MLD to access life-saving treatment 👧🧒.
By sharing and donating, you help save not one life, but many 🌍❤️.

Together, we can beat MLD! 💪💜