A heartbroken mum has warned other parents to push medics if they aren't convinced by a diagnosis after her son was found to have a rare and incurable condition. Little Frankie was initially diagnosed with cerebral palsy, his mum Amy Sheridan-Hill claims.
He was three years old and couldn't walk, while his development in terms of things such as sitting up and crawling were delayed. Months after that first diagnosis, Amy and husband Greg were told that Frankie had a far more dangerous condition.
He in fact had a life-threatening degenerative disease called TUBB4a leukodystrophy. HertsLive spoke with Amy about her son’s diagnosis and the importance surrounding raising awareness for the disease.
Amy told HertsLive: “At first, there was nothing to cause alarm, he was a normal and happy baby. It wasn’t until he was two and still not walking that we knew something was wrong. He was sitting up and crawling, but his motor skills were developing much slower than other children.
“We took him to see a neurologist when he was three years old, who diagnosed Frankie with cerebral palsy. He was very confident in the diagnosis. We thought we could deal with that.”
Typically cerebral palsy is diagnosed in children due to a traumatic birth and or pregnancy complications, however, after giving birth to Frankie through a scheduled C-section, Amy questioned the diagnosis and Frankie was taken for an MRI and to get his genome sequenced.
Following the MRI when he was four years old, Frankie was finally diagnosed with hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). H-ABC is a severe form of a life-threatening disease known as TUBB4a leukodystrophy.
“You're told that your child has cerebral palsy which is shocking and then you get an even bigger shock," Amy said. "Everything that you plan for your child is completely thrown up in the air.
“We were absolutely devastated when we found out. We were advised not to Google it, because it might upset us."
While cerebral palsy and H-ABC are both diseases that affect the central nervous system and motor abilities, H-ABC is a degenerative disease, meaning that Frankie's symptoms will worsen over time whereas cerebral palsy is not degenerative. This means that despite Frankie being able to walk and talk currently, he will lose these abilities.
Amy continued: “When we looked into leukodystrophy online, the first thing that came up said a child usually dies within two years of diagnosis. I just thought, ‘how could this happen to our baby boy?’"
Amy added that typically, rare diseases such as H-ABC do not get the funding and attention that they need. However, what if the disease isn’t as rare as people think? Amy claims that there are two cases of children suffering from the degenerative disease within just five minutes of her front door.
Since her son's diagnosis, Amy has co-founded the H-ABC Foundation which works to find a cure for the disease and raise money and awareness. After connecting through a Facebook page, Amy and another mother, Michelle whose daughter also has H-ABC, became the founders of the H-ABC Foundation and are now working tirelessly to progress the treatment options for the children suffering from the disease.
In addition to the foundation, Michelle co founded SynaptixBio, a UK biotech firm that is looking to develop the world’s first treatment for TUBB4a leukodystrophy. This development offers hope to the thousands of patients around the world suffering with the disease as there is currently no cure or treatment available.
The H-ABC Foundation charity website can be found here as well as personal 'Meet The Family' stories about children Frankie, Sophia, Aggie, Martin, Connor, Bethany, Noah and Tabriz. The parents are also fundraising to find a cure and begin clinical trials in Philadelphia after doctors possibly discovered a cure.
Clinical trials are actively being developed by Oxford-based SynaptixBio, who are working alongside the Children’s Hospital of Philadelphia (CHOP) in the US. It's hoped that clinical trials will launch in 2024.
“This project has the potential to change people’s lives,” Dr Dan Williams, SynaptixBio CEO and co-founder, said. “The research and development of a clinically-proven treatment for TUBB4a would be a real game-changer for patients and their families.”
CHOP has said it has identified Antisense Oligonucleotides (ASOs) as a potential treatment for the disease - a hope for many parents. It has previously been used to treat conditions including Duchenne muscular dystrophy and spinal muscular atrophy.
It's hoped ASOs will dramatically improve the quality of, and extend the lives of leukodystrophy patients “ASOs provide the potential to stabilise, improve quality of life, and extend life expectancy of children suffering from the condition,” Dr Vanderver added.
“Successful prevention of leukodystrophy progression would be revolutionary, life-saving, and life-enriching.” Dr Williams added that the deal was a “huge step forward” in the fight to tackle the condition. “This landmark agreement will enable SynaptixBio to develop and commercialise CHOP’s patents and research related to the treatment of TUBB4A leukodystrophy.
“We are naturally delighted to be working with CHOP on this extremely important project, which aims to accelerate the research and development of the world’s first treatment for the disease.”
The H-ABC Foundation hopes to raise £1 million towards the £4 million needed to proceed to clinical trials. This will be raised through a Just Giving page, fundraising events, donations and grant application.
The fundraising website reads: "Our children are suffering from this disease which robs them of their abilities and ultimately cuts lives short. We must find a cure to save our kids and other children around the world. So far, the charity has raised £153,489 of the £1 million target."
To donate and support children suffering with H-ABC, please visit the Just Giving page here and the foundation's website donation page here.
