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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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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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
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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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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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Bohring-Opitz Syndrome 