“Avery is extremely unique in that this disorder usually has its onset in early adulthood, but Avery’s issues began well before his first birthday. In this regard, Avery is one of a handful (meaning less than 5 or 10) of children affected by SCA28.
Avery was born with a De Novo Mutation - “Spino- Cerebellar Ataxia type 28", due to an AFG 3L2 gene mutation. Although general ataxia occurs at a rate of approx. 1% and cerebral palsy at 0.3% among children. Avery’s specific condition is quite rare at 0.000045%, 4.5 in 10 million people world-wide.
Clinical features of SCA28 include incoordination and unsteadiness, impaired gait, decreased upper and lower extremity control and balance, fine and gross motor deficits, and abnormal eye movements. This disorder also dramatically affects an individual’s ability to communicate, producing slow and slurred speech that is disjointed and non-fluent.
In most SCA28 patients, the onset of symptoms is well after they have mastered speech, walking and writing; but for Avery these symptoms predated these milestones, making his development a constant challenge that he bears with a smile.
Because of Avery’s extremely unique and rare early-onset presentation of SCA28, he has never had the chance to learn how to do many typical fun activities such as learning how to ride a bike!
Avery’s ambition to overcome his limitations has set an impressive standard no matter where he goes. Avery recently rode an "adaptive bike" at the 2017 Abilities Expo, of which he demoed/road around for hours. Since the expo Avery asks me weekly when he will get his very own adaptive bike. As a single mother, and at the moment unemployed, living on the poverty line, I find myself in financial hardship and scraping for funds wherever I can to continue to allow Avery to develop essential skills.”
Julie (Avery’s Mother)