H-abc Foundation UK is a charity that has been set up by the parents of Frankie and the parents of Sofia who both have H-abc Leukodystrophy. H-abc is a rare progressive neurological disease which cuts short the lives of those suffering from the disease.
This is Frankie’s story:
The 22nd July 2019 is a day we will never forget; the day our little boy was diagnosed with a progressive neurological disorder called Leukodystrophy, he is 4 years old.
Frankie was always slightly delayed when meeting milestones, slow to sit, slow to crawl and didn’t manage to walk, after a few years of the unknown he was diagnosed with Cerebral Palsy early this year but after an MRI we were called in to see the Neurologist who broke this heartbreaking news to us. We were told that Frankie has a leukodystrophy called h-abc or tubb4a, there are 52 types of Leukodystrophies and this is a rare one, approx 150 known cases in the world.
Each case presents differently but it generally begins in early childhood and children will eventually lose the ability to walk, talk, use fine motor skills and some need to be tube fed, this is a progressive disorder and cuts lives short. We will slowly lose our Frankie.
The next week was quite a blur, we couldn’t eat, sleep and could barely breathe, thinking about our baby and all the plans we had for him which had now come crashing down.
After the mist started to lift we started researching, knowledge is power, we found every piece of literature on the internet about the condition. We read everything we could about Frankie’s condition and what to expect in the coming years.
One of the lightbulb moments was when we came across a charity - Foundation to Fight h-abc set up by an inspirational lady called Michele whose daughter Elouise has the same condition as Frankie. Foundation to Fight H-abc are working closely with Philadelphia Children’s Hospital and research is underway to find a cure for this type of Leukodystrophy. This was a turning point, we are not going to lose our baby - we are going to FIGHT FIGHT FIGHT. We have set up our own charity, H-abc Foundation UK to help raise money and awareness, in conjunction with the American charity, of this awful condition that cuts short the lives of all these amazing kids.
H-abc Foundation UK’s purpose is:
1) To promote and protect the physical and mental health of people with hypomyelination with atrophy of the basal ganglia and cerebellum (h-abc) through the provision of support, education and practical advice to their families.
2) To promote and fund medical research into the condition.
3) To advance the education of the public in all areas in relation to h-abc.
We aim to do this through:
Living with H-abc can be challenging and isolating. This is why it is so important for us to provide support to patients and their families, helping them come to terms with the diagnosis and best manage their condition. We aim to provide reliable, up-to-date information about H-abc and offer individual support to families through phone support and meetings.
Living with a rare disease can be isolating, as patients are sparsely located all over the world. we aim to unite families across the globe to create a strong community. We aim to encourage connections through our online communities and help raise awareness of h-abc among the general public and healthcare professionals
Our ultimate goal is to find a cure for this life shortening disease. We are working with Children’s Hospital of Philadelphia (CHOP) to make this a reality.
If you are affected by this disease please do get in touch with us.