Elaney’s Story

Elaney’s Story with Bohring-Opitz Syndrome, written by her mother when she first became acquainted with the BOS Support group 10 years ago. “Elaney’s life has been a long and winding road with many ups and downs, twists and turns.” A number of things have changed in that time, but with a view of today there is one that remains: “Now age 19, she is much the same as she has always been; forever our baby girl.”
Thank you, Gina, for sharing your story of Elaney with us today!

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RARE Publications

Today is Rare Disease Day. Today is 28 February, Rare Disease Day!  The rarest day of the year, dedicated to raising awareness for people living with a rare disease.  Bohring-Opitz Syndrome (BOS) is a ultra-rare condition with only a few handful of cases worldwide in the beginning. Prior to 2011 the diagnosis relied mainly on recognizing the distinguishable…

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RDD 2020 BOS video

It’s #RareDiseaseDay! Anna Doggett, Contracts Administrator of Quanticate, shares how her family has been impacted by Bohring-Opitz Syndrome, a #RareDisease with only 200 diagnosis worldwide. Thank you so much, Anna and Quanticate for this amazing video about Bohring-Opitz Syndrome. Below you find her speech written. “Hello, I’m Anna and I work at Quanticate! Today we…

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BOS and monogenic obesity

In Case Report “The tale of two genes: from next-generation sequencing to phenotype” an 18-year-old man with a history of intellectual disability, cranio-facial dysmorphism, seizure disorder and obesity was identified to carry a de novo, pathogenic variant in the ASXL1 – Bohring-Opitz Syndrome. In addition, a maternally inherited and likely pathogenic variant in the MC4R…

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Infant Massage Techniques

Published by Oxford University Press the doctors B Herd, J Chiang, M Patterson, V Regueiro concluded in their recent article “The Physiological Effects of Infant Massage Techniques in a 17-month-old Patient with Bohring-Opitz Syndrome” that infant massage can offer initial support and they suggest that further research is needed to integrate infant massage into the…

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