In his early stages of life, Austin (A.J.) Rose was diagnosed with an ultra-rare disease called pontocerebellar hypoplasia type 6 (PCH6). Now, at three years old, A.J. is a “superhero” for his family and local community. According to an article from CBS Chicago, Austin’s “A-Team” recently hosted its 2nd annual fundraiser at the end of September 2022.
Austin’s GoFundMe page explains that his family is working to raise $50,000 to support the family and Austin’s ongoing medical needs. The page explains:
Because of Austin’s complex medical needs, a full-time nurse is needed to help his family manage his ever-changing and challenging day-to-day needs. Funds raised through Austin’s A-Team will go directly to AJ’s family to help pay for the cost of full-time nursing care, as well as any equipment, home renovations, or other costs associated with his care and progress.
What is Pontocerebellar Hypoplasia type 6 (PCH6)?
As its name suggest, pontocerebellar hypoplasia type 6 (PCH6) is one of the numerous forms of pontocerebellar hypoplasia, rare genetic conditions which affect the brain’s development. Currently, doctors and researchers know of around 10 forms of PCH. The Genetic and Rare Diseases Information Center (GARD) explains that PCH6 is:
characterized by neocortical and severe cerebral cortical atrophy associated with pontocerebellar hypoplasia with the pons and cerebellum equally affected. Clinically the disorder manifests at birth with hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microcephaly, spasticity and lactic acidosis.
PCH6 typically manifests anywhere between 1 day and 4 weeks following birth. As described somewhat above, symptoms and characteristics can (but do not always) include:
- Hypotonia (low muscle tone)
- Poor sucking and feeding
- Recurrent apnea
- Intractable seizures
- Infantile encephalopathy
- Progressive microcephaly (in those who live beyond infancy)