The mother of a boy with a rare, deadly neurodegenerative disease has said she hopes her son’s life will “change forever” as scientists revealed a new treatment would move into clinical trials.
Frankie Sheridan-Hill, 8, was diagnosed with H-ABC – a incurable genetic disorder that affects certain parts of the brain – in July 2019.
The disease belongs to a group of 52 conditions called leukodystrophies which affect the white matter of the brain.
As of 2019, less than 200 cases of H-ABC had been recorded worldwide but the figure is thought to be far higher.
Biotech firm SynaptixBio are hoping to begin trials into a potential therapy for the disease later this year. While it is not known whether the treatment will cure the disease, scientists hope that it will be able to reverse some of the symptoms, which include poor coordination, speech problems and learning difficulties.
It is also hoped that the treatment will extend life expectancy in children with the condition.
Frankie’s mother, Amy, first suspected that something was wrong with her son when he missed some of his milestones. He was initially diagnosed with cerebral palsy, but advanced genetic testing later confirmed that he had H-ABC.
“The neurologist told us our son had two years to live and that nothing could be done. He told us to just go and enjoy the time we had left,” Ms Sheridan-Hill told the Standard.
“We then found that people were working on a treatment at the Children’s Hospital of Philadelphia in the US. At that point I thought ‘we can’t sit back and wait to lose our child, we need to do something’.”
She went on to set up the H-ABC Foundation alongside Dr Michelle Teng, a medical scientist and geneticist whose daughter was diagnosed with H-ABC aged three.
The charity has since raised more than £150,000 to fund research into the disease.
Dr Teng launched SynaptixBio in 2021 and the firm subsequently entered into a licensing agreement with the Children’s Hospital of Philadelphia to develop a treatment.
SynaptixBio are currently laying the groundwork for the trial, finding a suitable medical location and drawing up a list of criteria for patients who can enrol.
Ms Sheridan-Hill said that she hoped that Frankie would be among those able to access the trial when it begins.
“You go from a place of no hope to being in within touching distance of a trial that could hopefully change our child’s life forever,” she said.
“There is a lot of uncertainty because we don’t know which way the trial could go, but even knowing that it will happen is massive.”
