All about “What is Bohring-Opitz Syndrome/ASXL1 (BOS Syndrome)?”
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Join this welcoming, safe, and friendly place and be able to participate and receive important treatment information. We, parents and caregivers from almost 50 countries, might not know all the answers, as you we are always looking to find the best way to improve the life of our child with Bohring-Opitz Syndrome (BOS). But – together we are…
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Finding support Having support and community resources can help increase your confidence in managing Bohring-Opitz-Syndrome (BOS), enhance quality of life, and assist in meeting the needs of other family members. Parenting is often challenging, and parenting a child with a chronic condition like BOS can add additional stress to the day-to-day challenges. If you are…
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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…
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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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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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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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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,…
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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 MoreHere our last minute project for our awesome Bohring-Opitz Dads: A Jumping BOS. Just download the printable Bohring-Opitz Syndrome Jumping BOS Dad, cut and assemble. Happy Father’s Day! Do you have a Bohring-Opitz Super Hero? Download here your printable “Bohring-Opitz Super Hero Jumping Jack”. Do you like it? We really appreciate your consideration to make…
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“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…
Read MoreThe 2nd ASXL Conference will be held at the University of Michigan, Ann Arbor! The 2019 ASXL Conference (July 19-21) will include informational workshops, equipment and therapy fair, family focus groups with medical specialist facilitators, opportunities to submit samples for biobanking and enroll in the ASXL registry, bbq with therapy dogs at the park, and…
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Bohring-Opitz Syndrome 