General
Seven-year-old Fletcher was born with an ultra-rare disease, BBSOAS, and finally got a diagnosis this month
Ever since seven-year-old Fletcher Halpin was born, his family has been searching for a diagnosis to explain his rare combination of symptoms.
Key points:
- Fletcher’s family has been seeking an explanation for his symptoms for years
- He has a disease only 54 others in the world are known to have
- A genetic test recently funded through Medicare enabled the diagnosis
He has a visual impairment, developmental delay, a mild intellectual disability and an intense love of music.
The answer came just a fortnight ago.
Fletcher was diagnosed with an ultra-rare disease, only discovered in 2014.
Just 54 people in the world are known to have Bosch Boonstra Schaaf Optic Atrophy Syndrome (BBSOAS).
Fletcher’s parents, Kellie and John Halpin, describe Fletcher as…
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