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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A new update from the ASXL registry is given this month! This registry has been created to collect information about Bohring-Opitz Syndrome and ASXL related disorders in order to achieve a better understanding of these rare conditions for patients, caregivers and medical professionals. In this newsletter, the actual numbers of registered individuals were displayed. At…
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The long-awaited sequel to the latest publication by Bianca Russell and her team has been released: “Clinical findings in 39 individuals with Bohring–Opitz syndrome from a global patient-driven registry with implications for tumor surveillance and recurrence risk.” This follow-up to the publications in 2015 (Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing…
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COMING SOON: PUBERTY SURVEY FOR ALL ASXL FAMILIES! Dr. Bianca Russell, a pediatric geneticist from UCLA, reached out to let us know about a new Puberty Survey for all ASXL families that will be launched soon. The UCLA ASXL Registry team is currently working on a new survey regarding puberty in children with ASXL conditions.…
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It’s Bohring-Opitz Syndrome Awareness Day! This day was chosen because that’s the day that the Bohring-Opitz Syndrome support group was created on Facebook, on April 6th 2011! 11 years ago! This group has helped so many families to connect all over the world! With this awareness day we want to encourages people to learn more…
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Just 11 days to go! Rare Disease Day is approaching. Join our Bohring-Opitz Syndrome Family with these frames for your social media profile picture and show your support on Rare Disease Day on February 28th 2022! twb.nz/bohringopitzrarediseaseday2022 twb.nz/bohringopitzrarediseaseday
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How amazing is that! The first foundation in Europe committed to advancing scientific research and to helping other families with Bohring-Opitz Syndrome. The initiators are Amaia’s parents, Juanfra López and Rosario Ruíz. Read more about their foundation and how you can help here: English below. ASALBO es fundada en marzo de 2021 gracias a la…
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Presenters: Bianca Russell, MD (University of California Los Angeles) and Wen-Hann Tan, BMBS (Boston Children’s Hospital) Experts Bianca Russell, MD (University of California Los Angeles) and Wen-Hann Tan, BMBS (Boston Children’s Hospital) provide a research and clinical overview of Bohring-Opitz Syndrome for families. This session is part of the virtual 2021 ASXL Family Conference hosted…
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This episode of The Mental Health and Developmental Disabilities (MHDD) National Training Center features Campbell, a girl from Kentucky living with Bohring-Opitz syndrome. Michelle is her mother and caretaker and believes her time as an Occupational Therapist was what truly prepared her for the task of raising Campbell. The Mental Health and Developmental Disabilities (MHDD)…
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NEW PUBLICATION – We know that many of our children often poke and rub their eyes for no apparent reason. We parents suspect that it may help them to see more clearly (children with BOS are often severely near-sighted). Another theory is that eye poking is a sensory stimulation (creates light flashes) (when bored or…
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Bohring-Opitz Syndrome 