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…

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…

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…

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…

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…

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,…

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…

“All the lessons you have learned along the way, all the strength you’ve gathered, all the ways in which you now better understand unconditional love, and kindness, and the value of life — all of that is what makes you the wonderful mother you are and exactly who your child needs.” – The Mighty HAPPY…