Hertfordshire mum told by doctors “nothing can be done” for son with extremely rare condition
Frankie is living with H-ABC with affects around 200 people worldwide
A mum from Hertfordshire is raising awareness of her son’s extremely rare condition which affects around 200 people worldwide.
Amy Sheridan-Hill, a former teacher from Ware, says it was “very isolating and lonely” when her 10-year-old boy Frankie was diagnosed with hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) - a severe form of TUBB4A leukodystrophy.
The condition causes disruption to the signals between nerve cells in the brain which means Frankie lives in a wheelchair with no leg movement and is unlikely to survive past his teens.
Speaking to Greatest Hits Radio, Amy said: “It's really tough as a parent. I think when you have a child, you have all these expectations and when Frankie was four, we were told that he's got this disease.
“We were effectively told, ‘sorry, there’s nothing that can be done. Just go and enjoy the time you have left’ and we don't know how long that is”, she adds.
There are fewer than 200 documented cases of H-ABC which have been identified, the majority of which are children, according to H-ABC Foundation UK.
The charity also say that number is on the rise as patients have access to better clinical diagnoses.
Since finding out about her son’s diagnosis, Amy says she “went on Facebook groups to connected with a couple of other mums” with children who have the same condition.
Together they set up a charity which has helped fund a clinical trial at a hospital in Philadelphia, as well as wheelchairs and communication devices for children in the UK.
Amy said: “We want families to go doctors' and be told, ‘this is what your child has and this is the treatment’, not this is what your child has, that's it, off you go.
“To be told nothing can be done is such a shock - We don't want families to go through that in the future.”