In the winter of 2009, our lives turned in a direction that none of us would have expected. Our son Sam was developing normally as an infant, but at 18 months old and again at 2 years old, Sam suffered from a neurological episode that caused paralytic hypotonia for several days. It took 6 years to receive a diagnosis for Sam, a very rare genetic disease called Relapsing Encephalopathy with Cerebellar Ataxia (RECA.)

This diagnosis was made possible through the dedication of countless doctors, scientists, researchers and fundraisers in the rare disease community. Since our diagnosis, peace and calm have flooded our lives, still understanding that , at this present time , there is no cure for Sam’s disease, and yet very aware an occurrence could affect Sam at any time in his lifetime.

Sam’s disease is so rare, that he is one of less than twenty reported RECA cases in the world. Ataxia is the symptom that Sam now lives with, which affects his motor skills, compromising his balance and co-ordination.

Despite the everyday challenges Sam faces, he is full of smiles, especially when beating his dad at video games.