My 2yo brother was diagnosed with an ultra-rare genetic disease (AADC deficiency). His only hope is a gene therapy (Kebilidi) unavailable in our country. Seeking advice, resources, or foundation contacts.
Hi Reddit community,
I am a 20-year-old student from Uzbekistan, and I’m reaching out to you in absolute desperation to find a way to save my 2-year-and-10-month-old brother, Muhammad.
He was recently diagnosed with Aromatic L-amino acid decarboxylase (AADC) deficiency (ICD-10: G24.8). It’s an ultra-rare neurometabolic disorder that prevents his brain from producing vital neurotransmitters.
His current condition:
He suffers from painful oculogyric crises every 3–4 days, which cause agonizing distress lasting up to 6 hours per episode.
Severe global developmental, speech, and psychomotor delays.
Severe muscle hypotonia (cannot sit independently or walk).
He is currently on supportive care (Nakom/levodopa and Vitamin B6), but it only mildly manages symptoms and doesn't stop the disease.
The treatment we need:
Our neurologist stated that his only path to survival and recovery is the FDA-approved gene therapy Kebilidi (eladocagene exuparvovec). However, this specialized neurosurgical gene transfer is completely unregistered and unavailable in Uzbekistan. Furthermore, its market cost is completely astronomical (millions of USD), and we are a low-income family raised by a single mother.
What we are looking for:
We are not asking for money here. We need information and direction.
Does anyone know of any active clinical trials, expanded access programs, or compassionate use protocols for Kebilidi / AADC deficiency anywhere in the world (US, Europe, Asia)?
Are there any specific international NGOs, orphan drug foundations, or billionaire-backed charities known for funding gene therapies for international patients from developing countries?
If you are a medical professional or know an institution specializing in AADC gene transfers, please point me in their direction.
I have all his certified medical and genetic records from a specialized center ready to be translated and shared with any verified organization or medical board.
Thank you for reading and for any upvotes to help this gain visibility.