‘Our world fell apart’: Family’s £200k appeal for seriously ill toddler with ultra-rare condition
Toddler accepted for rare US treatment as family launches £200k appeal
An 18-month-old boy with an ultra-rare genetic condition is at the centre of a £200,000 fundraising appeal as his family races to access an experimental treatment they hope could be lifechanging.
Eliyas is living with TUBB4A-related leukodystrophy, a neurological disorder which affects the development of myelin – the protective coating around nerve fibres that allows the brain to communicate with the rest of the body.
The condition is so rare that only a handful of children across the world are known to be affected by it.
His devoted parents, Jasmin Matharu and Hasnain Bashir, say the condition can affect movement, coordination, speech and other essential skills.
They say many children with the condition experience progressive neurological decline, severe disability and a significantly shortened life expectancy.
On the fundraising page they said: “When Eliyas was first diagnosed, our world fell apart What we believed was a simple developmental delay became every parents worst nightmare.”
Despite his diagnosis, Eliyas continues to work through physiotherapy to reach developmental milestones.
His parents describe him holding his head up for longer, rolling independently, making a new sound or reaching for a toy as "victories".
The family has now secured a place for Eliyas on a personalised antisense oligonucleotide (ASO) gene therapy programme at Rush University Medical Centre in Chicago.
According to the fundraiser, he has been assessed and accepted for the investigational treatment, which has been designed specifically for children with his genetic condition.
His parents say they hope the programme can slow the progression of the disease, preserve more of Eliyas's abilities and give him more opportunities to reach developmental milestones.
The £200,000 appeal will help cover clinical administration and treatment at Rush University Medical Centre.
It will also include medical monitoring and specialist follow-up during the two-year programme, alongside intensive physiotherapy, hydrotherapy, specialist equipment, rehabilitation, travel and accommodation.
The GoFundMe has already raised £43,000.
The family said: "Every donation, no matter the size, brings Eliyas one step closer to the treatment that could change the course of his life."