H-abc Foundation was set up by the parents of Frankie and the parents of Sofia who both suffer from H-abc. After connecting through a Facebook page Michelle (Sofia’s mum) and Amy (Frankie’s mum) met at a rare disease conference in Cambridge and decided to set up a UK charity! The 4 parents became the founders of H-abc Foundation at the end of 2019 and are now working tirelessly to progress the treatment options for the children suffering from h-abc. Find out more about Frankie and Sofia’s story on the meet our family page.
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.
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.
We have a Scientific Advisory Board (SAB) who help guide us to ensure our funds are used in the most effective way.