H-abc Foundation Uk is a charity that has been set up for the parents of Frankie, Sofia and our daughter, Agatha, who all have H-abc Leukodystrophy, a progressive neurological disease that affects approximately 150 children worldwide. We need to find a cure and we need your help to do it before it’s too late. 

H-abc is a devastating disease that steadily strips its victim of fundamental capabilities which many of us take for granted; talking, walking, independently going to the bathroom and in some cases, the ability to swallow (requiring them to be tube-fed). Its victims die prematurely, the disease doesn’t care how much they are loved or the devastation it wreaks on their families.

Our world collapsed that morning in Cheltenham, when the paediatrician informed us Aggie had a rare and degenerative disease for which there was no cure. And ever since, powerless, we have watched our spirited Agatha, grow in humility, resilience and humour while her body has gradually been packing up on her. The muscles in her legs, once chunky and healthy, have now wasted away; walking is no longer possible and she is now wheelchair-bound. She has lost her fine motor skills that enabled her to feed herself. She can’t verbally express herself anymore.

We had so many hopes for Aggie, and now the future is something we have come to fear rather than plan for with excitement. To watch the steady decline of your child is something no parent should have to go through, and over the last eight years we have witnessed her trying her best to cope but now she needs a miracle. She never rails against her misfortune and has never said, “This isn’t fair,” despite the fact she can’t enjoy things other little girls do like drawing (because of her severe tremor), riding a bike, or learning ballet (because she has no balance), in fact in a life that is constantly tested, she keeps going with an infectious smile.

But it’s not all doom. There is a chance the new modern miracle of gene therapy might save Aggie, Frankie and Sofia. CRISPR gene editing is a cutting-edge technology that has the ability to correct faulty genes with clean precision. Of the 52 Leukodystrophies identified (of which Aggie has a very rare form), there have been promising results emerging from research at CHOP (Children’s Hospital of Philadelphia). These have given us a thread of hope we didn’t have a few years ago, and there is a healthy chance the tireless doctors at CHOP will soon discover a cure with the aid of gene therapy. In order to find one they need to conduct human trials, which will cost around £4m. And while much of this figure will be raised via hospital grants once key milestones are met, we need to help the doctors and scientists get to this vital stage. And quickly. Due to the rarity of this disease we don’t get the funding and publicity that other diseases benefit from.

Exploratory research for h-abc Leukodystrophy is now underway, and scientists are working out the best way to repair the faulty gene that is responsible for causing the disease. We’re aiming to raise £100,000 which will help toward giving Aggie and other h-abc children at least some of their life back, and any donation you can make will go directly to the hospital and scientists trying to find a cure.

Time is running out...