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!
Celebrate 10-year anniversary of the Bohring-Opitz Syndrome Support group with us.
Happy Anniversary!
#10YearsBOS #BOS #BOSAware #ASXL1 #BohringOpitz #RareDisease #BOSFamily #bossupportgroup
Read More
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…
Read More
From the ASXL Registry Team: Dear Registry Families, We are pleased to share the second issue of our ASXL Registry newsletter. Additionally, we would like to take this time to assure you that the ASXL Registry is still operational during the pandemic and we would be happy to address any questions or concerns through our…
Read More
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…
Read More
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…
Read More
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…
Read More
Since we have known what syndrome our little angel was affected with, we have been even more admirative and proud of Eva, and of her fight. But we do not understand why our children must experience this. We are sure of one thing : Eva has transformed us forever and has filled us with love,…
Read More
We are less than 3 weeks away from the ASXL Conference in Ann Arbor, Michigan and you can register by 5 July! The ASXL Conference organized by the ASXL Rare Research Endowment (AЯRE) Foundation – in partnership with Leo’s Lighthouse, Simons Variation in Individuals Project (VIP) and the University of Michigan – will take place…
Read More
