Rarest of Rare

March 24, 2023

Augustine Morar

Our son was diagnosed with 17Q12 deletion right at birth because they found cysts on his kidneys. He has repeat hospitalizations with symptoms outside of this diagnosis. I kept pushing for additional testing but they would tell me “maybe he’s teething.” After another round of genetic testing they found another completely unrelated very rare genetic disease called Mitchell Syndrome.

There are currently only 17 diagnosed in the world and only 11 living. It is fatal with no treatment or cure. We are privately finding research to get NACA FDA approved for his use because preliminary studies have shown it to be helpful. I’ve connected with the other families through the Mitchell and Friends Foundation. When there’s only 11 living that are diagnosed it’s hard to gain support or have hope.

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