Rare Revolution: Bohring-Opitz Syndrome Bringing Families Together

December 24, 2016

screen-shot-2016-12-19-at-11-31-56-amThe Bohring-Opitz Syndrome Foundation tells us about this ultra-rare condition which affects less than 70 patients worldwide, and how their foundation supports patients and families globally.

Meet Hazel! When Hazel was born, she weighed only four pounds, nine ounces at 38 weeks. Her parents knew she was too small for her gestational age and that something was wrong. She was admitted to the NICU after she began aspirating breast milk, and thus began Hazel’s family’s search for a diagnosis. Over the next 20 months, Hazel demonstrated the following symptoms: feeding difficulties hypotonia (low muscle tone) profound developmental delays digestive Issues inability to communicate verbally very slow growth seizures Finally, Hazel’s family received a diagnosis via Whole Exome Sequencing.

Hazel has a rare genetic disorder called Bohring-Opitz syndrome.

Click here to read the full story on page 28 – Winter Edition – Issue 2 Rare Revolution Magazine

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