We provide a variety of support and resources for our families, from an online community of parents to connect with to accurate information that you can pass along to your doctors.
If you have just received a diagnosis and don't know where to turn please get in touch, we have been there and can offer advice and a shoulder to cry on. It is such a difficult and lonely time we want to be there to support you. All our families have been through what you are feeling and we are here to support each other and to go through this journey together
Please get in touch for further information and to join us in our fight for a cure
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Do you know someone with H-ABC?*
FREQUENTLY ASKED QUESTIONS
WHAT IS THE CAUSE OF H-ABC?
H-ABC is caused by a mutation in the TUBB4A gene.Unlike other genetic disorders, H-ABC is usually not inherited from a parent. Instead, ittypically emerges as a random mutation(de novo)in the affected individual
HOW MANY PEOPLE HAVE H-ABC?
As of 2019,there arefewer than 200documentedcases of H-ABChave been identified,the majority of which are children. However, that number is on the riseas patientshave access to better clinical diagnosis.H-abccan present similarly to other conditions,such as Cerebral Palsy, and therefore misdiagnosis is common
WHAT ARE THE SYMPTOMS OF H-ABC?
Low muscle tone(dystonia)
Muscle and limb stiffness
Problems paying attention
Loss of balance
Immobility (initial or over time)
HOW IS THIS CONDITION DIAGNOSED?
H-ABC is diagnosed basedona combination ofgenetic testing,physical symptomsandbrain imaging(using MRI).
IS THERE A CURE FOR H-ABC?
Currently, there is no known cure for this disablingand life-threatening condition.
WHAT IS BEING DONE TO FIND A CURE?
The good news is that research is currentlyunderway. Children's Hospital ofPhiladelphia (CHOP), for example, has already started exploring gene therapy, which isthe wave of the future in curing manygeneticdiseases.Gene therapy can take on manyforms. In particular,Antisense Oligos (ASOs)therapy has gained traction in treatingneurological disease. ASOsare short, synthetic, single-stranded oligodeoxynucleotidesthat can alter gene expression (RNA) and reduce, restore, or modify protein expression. By targeting the source of the pathogenesis,ASO-mediated therapies have a higherchance of success than therapies targeting downstream pathway. Two ASO-mediatedtherapies havealreadyreceived approval from the US Food and Drug Administration(FDA)for the treatment of Duchenne muscular dystrophy (DMD) and spinal muscularatrophy (SMA).