Our world collapsed that morning in Cheltenham, when the pediatrician 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 humor 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.
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.