Austin Osborne (IMAGE)
Caption
Austin Osborne, now 17 years old, at his Grade 8 graduation holding the Mike Smith award of Perseverance. Austin was diagnosed with with Joubert syndrome in 2022, 15 years after Joubert syndrome was first suspected and 10 years with the Care4Rare research program. Care4Rare identified a hard-to-detect mutation in the other copy of his CEP120 gene confirming the diagnosis.
Credit
Submitted by Heather Osborne, mother.
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