H-abc Foundation UK is a charity that has been set up by the parents of Frankie and Sofia who both have H-abc Leukodystrophy. H-abc is a progressive neurological disease. Below 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.
It will take around £4m to get to clinical trials, much of this will be raised by the hospital via grants once key milestones are met, but we need to raise money to help the doctors and scientists get to this stage. Due to the rarity of this terrible disease we do not get the publicity and funding that other diseases often do.
Any donation you make will go to the hospital and scientists working to find a cure, cellular level research of the disease is complete and they are now working on how they can target the best approach for gene therapy to replace/destroy the faulty gene. We are aiming for £100,000 which will give a real boost to this research and give Frankie a chance at a life along with all the other h-abc children.
Thank you so much for your support!