#Bohring-Opitz Syndrome

[bohringopitzsyndrome]

Updated Screening Guidelines

A new publication was recently published by Patel et al. 2024 on two children with Bohring-Opitz Syndrome, who are diagnosed with liver cancer. These two, together with a previously known case, are now three individuals diagnosed with hepatoblastoma described in the medical literature. Hepatoblastoma is a very rare malignant liver cancer occurring in infants and children and can spread to other…

[filmnoirsbian]

Hello! My brother in law has set up a gofundme to get a mobility van for my niece. You can donate here.

Copy and pasted from the page:

Hello, my name is Andrew and we are looking to fund a Mobility Van for our sweet daughter Evelyn. She was born in Japan with a rare pathogenic mutation of the ASXL1 gene named Bohring-Opitz Syndrome. We almost lost her at birth and on the medical evacuation to Rady Children's Hospital, San Diego 48 hours later. Due to BOS, she has a myriad of symptoms but the ones that drive the need for a mobility van are low muscle tone and abnormal corpus callosum development in her brain. This causes cognitive and motor functional development to be slowed greatly. She is not mobile, has no head control and is ventilator, oxygen and feeding tube dependant. While she can still fit in her car seat she will outgrow the rear-facing seat by next year and will require head support for forward facing. Currently, her wheelchair capable of head control and is an approved mobility device to be used in an accessible van but insurance will not cover the cost. While some potential grants and charities can help, there will still be a heavy out-of-pocket expense. The price ranges from modifying our current van at >$21000 to buying a new van at >$60000. I have set the goal of this fundraiser to $60k for a new van with a fallback plan of purchasing a used one or having our current van modified, which has a 4-month turnaround. If we chose to have the current van modified, we will need another van in the interim to meet her appointments.

Head control aside, with a mobility van, we would be able to easily wheel her and her equipment straight into the van to make it much easier to get her out and about. Her Wonderfold Wagon we use to haul her in a special chair and her gear to and from the van. While it is just fantastic, she is quickly outgrowing that as well and soon will not fit in it. This is another reason for us seeking funding for a mobility van.

We humbly ask your assistance in purchasing a mobility fan for our sweet Evelyn.

Thanks for donating and/or sharing! 💝

[asmohlab]

Aujourd’hui, nous sommes unis pour la Journée de sensibilisation au syndrome de Bohring-Opitz ! Partageons l'amour, le soutien et la compréhension pour les personnes touchées par cette maladie génétique rare.

[gebryan]

HUGWIND! Day 96 (April 6, 2023)

HUGWIND! Day 95 (April 5, 2023) Say it Out Loud! HAPPY UNIVERSAL GLOBAL WORLD INTERNATIONAL NATIONAL Maundy Thursday Burrito Siamese Cat Student Athlete New Beer’s Eve Army Bohring-Opitz Syndrome California Poppy Chakri Drowsy Driver Awareness Fresh Tomato Hostess Twinkie Day of Sport for Development and Peace Jump Over Things Acai Bowl Alcohol Screening Carmel Popcorn Carbonara Employee…

[bulletinwave]

Minnesota girl, 3 years old, diagnosed with the syndrome in less than 250 people worldwide

Minnesota girl, 3 years old, diagnosed with the syndrome in less than 250 people worldwide

EAGLE LAKE, Minnesota (KEYC) – A 3-year-old boy from Eagle Lake was born with a syndrome that has been diagnosed in less than 250 people worldwide. Today, his family is looking for a hand. Chloe Hoyle was born in 2018 with Bohring-Opitz syndrome, a genetic disability that affects her growth, development and organs. All his life he used a tracheostomy tube to breathe and a cannula to eat. Her…

[networkingdefinition]

April 2019 CALENDAR WITH HOLIDAYS – UNITED STATES

Official Website: April 2019 CALENDAR WITH HOLIDAYS – UNITED STATES

April 1 April Fools’ Day

April 1 Edible Book Festival

April 2 World Autism Awareness Day UN[10][77] April 2 International Children’s Book Day

April 2 Male Escorts’ Day[78]

April 5 National Maritime Day

April 6 International Day of Sport for Development and Peace UN[10] April 6 World Bohring-Opitz Syndrome Awareness Day[79]

April 7 Day of Remembrance of the Victims of the Rwanda Genocide UN[10][80] April 7 World Health Day[61] UN, WHO[10][81] April 8 International Romani Day

April 10 World Homeopathy Day

April 10 Siblings Day (some countries)

April 11 International Louie Louie Day

April 12 Equal Pay Day

April 12 Cosmonautics Day

April 13 FND Awareness Day[82] functional neurological disorder and conversion disorder. FND Hope; since adopted by other groups and medical professionals worldwide.[83][84][85] April 14 Black Day (South Korea)

April 14 Pohela Boishakh (Bangla New Year’s Day) April 15 Day of Dialogue

April 15 World Bleeding Disorders Awareness Day Supported by the World Federation of Hemophilia April 16 National Healthcare Decisions Day (US)[86]

April 16 Foursquare Day

April 16 World Voice Day

April 17 World Haemophilia Day

April 18 International Day For Monuments and Sites

April 18 Youth Homelessness Matters Day National Youth Coalition for Housing, Australia April 19 Bicycle Day

April 20 420: international day for cannabis-related protests and events Global cannabis culture[87][88][89] April 21 Day of Silence

April 21 National Tea Day

April 22 Earth Day

April 22 International Mother Earth Day UN[10][90] April 22 (UK) Administrative Professionals’ Day

April 23 World Book and Copyright Day UN, UNESCO[10][91] April 23 English Language Day[10]

April 24 Armenian Genocide Remembrance Day

April 24 World Meningitis Day[92]

April 24 Fashion Revolution Day

April 24 International Sculpture Day

April 24 World Day for Laboratory Animals

April 25 DNA day

April 25 World Malaria Day[61] UN, WHO[10][93] April 25 Parental Alienation Awareness Day

April 25 ANZAC Day

April 25 Liberation Day (Italy)

April 26 World Intellectual Property Day

April 27 King’s Day (The Netherlands)

April 27 Freedom Day (South Africa) April 28 World Day for Safety and Health at Work UN, ILO[10][94] April 29 Day of Remembrance for all Victims of Chemical Warfare UN[10][95] April 29 International Dance Day UNESCO[96] April 30 International Jazz Day UN[10][97] April (North America: Wednesday of last full week) Administrative Professionals’ Day

Third Thursday of April National High Five Day (USA)

April (19th, 18th and 17th have been used) Record Store Day

[equitiesstocks]

April 2019 CALENDAR WITH HOLIDAYS – UNITED STATES

Official Website: April 2019 CALENDAR WITH HOLIDAYS – UNITED STATES

April 1 April Fools’ Day

April 1 Edible Book Festival

April 2 World Autism Awareness Day UN[10][77] April 2 International Children’s Book Day

April 2 Male Escorts’ Day[78]

April 5 National Maritime Day

April 6 International Day of Sport for Development and Peace UN[10] April 6 World Bohring-Opitz Syndrome Awareness Day[79]

April 7 Day of Remembrance of the Victims of the Rwanda Genocide UN[10][80] April 7 World Health Day[61] UN, WHO[10][81] April 8 International Romani Day

April 10 World Homeopathy Day

April 10 Siblings Day (some countries)

April 11 International Louie Louie Day

April 12 Equal Pay Day

April 12 Cosmonautics Day

April 13 FND Awareness Day[82] functional neurological disorder and conversion disorder. FND Hope; since adopted by other groups and medical professionals worldwide.[83][84][85] April 14 Black Day (South Korea)

April 14 Pohela Boishakh (Bangla New Year’s Day) April 15 Day of Dialogue

April 15 World Bleeding Disorders Awareness Day Supported by the World Federation of Hemophilia April 16 National Healthcare Decisions Day (US)[86]

April 16 Foursquare Day

April 16 World Voice Day

April 17 World Haemophilia Day

April 18 International Day For Monuments and Sites

April 18 Youth Homelessness Matters Day National Youth Coalition for Housing, Australia April 19 Bicycle Day

April 20 420: international day for cannabis-related protests and events Global cannabis culture[87][88][89] April 21 Day of Silence

April 21 National Tea Day

April 22 Earth Day

April 22 International Mother Earth Day UN[10][90] April 22 (UK) Administrative Professionals’ Day

April 23 World Book and Copyright Day UN, UNESCO[10][91] April 23 English Language Day[10]

April 24 Armenian Genocide Remembrance Day

April 24 World Meningitis Day[92]

April 24 Fashion Revolution Day

April 24 International Sculpture Day

April 24 World Day for Laboratory Animals

April 25 DNA day

April 25 World Malaria Day[61] UN, WHO[10][93] April 25 Parental Alienation Awareness Day

April 25 ANZAC Day

April 25 Liberation Day (Italy)

April 26 World Intellectual Property Day

April 27 King’s Day (The Netherlands)

April 27 Freedom Day (South Africa) April 28 World Day for Safety and Health at Work UN, ILO[10][94] April 29 Day of Remembrance for all Victims of Chemical Warfare UN[10][95] April 29 International Dance Day UNESCO[96] April 30 International Jazz Day UN[10][97] April (North America: Wednesday of last full week) Administrative Professionals’ Day

Third Thursday of April National High Five Day (USA)

April (19th, 18th and 17th have been used) Record Store Day

[treadtopic]

Bohring-Opitz Syndrome Awareness Day 2019

Bohring-Opitz Syndrome Awareness day takes place on 6th April of each year. It is also known as BOS awareness Day. Taylor Gurganus was a co-founder of the BOS Foundation board. First BOS awareness Day was organized on April 6, 2015.

                                                  Co-Founder of BOS foundation

Why 6th April was selected for BOS Awareness Day?

6th April was selected for this day…

[miracleinside3d4dbabyscan]

Important things to Consider IN IVF Pregnancy - Your Egg Donor and Sperm Donor Fits You But Do Their Genes? - Information on Prenatal Genetic screening. There are a lot of factors that go into picking the right egg or sperm donor for you. Typically, future parents, of course, want their children to look like them, so maybe you want to make sure your donor has green eyes or black hair like your partner. Then there are broader categories of ethnicity, religion, hobbies, and education. To some, from where the donor graduated college is crucial. To others, whether the donor is musically inclined might be more important. We all would want the “best of the best”, but no one is perfect, so you have to decide which attributes are most important to you. Important is Both egg and sperm donors are required to go through a litany of screenings including testing for communicable diseases, a psychological assessment, and a detailed medical history. Many donors are also required to go through expanded carrier screening, which is a genetic test designed to assess whether someone is at increased risk of passing a genetic condition on to the next generation. This testing is incredibly vital because the donor’s genes could impact the health of your future children. Here are a few things to consider after receiving your donor’s results: 1.) For autosomal recessive conditions, such as cystic fibrosis or Tay Sachs disease, both egg and sperm must carry a disease-causing variant for the same condition in order for a pregnancy to be at an increased risk of being affected. If the donor is a carrier, but the recipient is not, then the risk to have an affected child is reduced. The specific risk remaining after testing depends on a number of factors, including ethnicity of the recipient and the sensitivity of the technology used for the carrier screening. If you are comfortable with the residual reproductive risk, you may not feel the need to search for a new donor.Of note, this does not hold true for female carriers of X-linked recessive conditions, like Fragile X syndrome or Duchenne muscular dystrophy. If a woman who intends to be an egg donor is found to be a carrier of an X-linked recessive condition, then the risk of having an affected male child is 50%, which often excludes that woman from being a donor. 2.) Carriers of recessive conditions are generally healthy. Thus, if your donor does pass their variant on, as long as the kiddo gets a working copy of that gene from you, your new bundle of joy will also be a carrier but should typically have no ill effects. In order to determine potential effects of a positive carrier status, take the time to speak with a genetic counselor to determine what being a carrier of a given condition may look like. 3.) How impactful is the condition for which your donor is a carrier? For some recipients, donors who are carriers of a condition associated with intellectual disabilities would be disqualified. For others, however, having a child with a condition that would require surgical intervention would be the determining factor. Most conditions are highly variable, not only in terms of age of onset but also clinical severity. The risk to have an affected pregnancy, and the testing options available to further refine this risk. Obtaining, and understanding, this information is powerful for everyone: you, your children, and maybe even one day, your children’s children! Information on Prenatal Genetic screening. GeneSAFE™ Complete GeneSAFE™ Complete screens for both inherited and de novo single-gene disorders and represents a combination of the tests GeneSafe™ inherited and GeneSAFE™ de novo providing a complete picture of the pregnancy risk. GeneSAFE™ Inherited screens for 5 common inherited recessive genetic disorders, such as Cystic Fibrosis, β-Thalassemia, Sickle cell anemia, Deafness autosomal recessive type 1A, Deafness autosomal recessive type 1B GeneSAFE™ de novo screens for 44 severe genetic disorders due to de novo mutations (a gene mutation that has not been inherited) in 25 genes that cause skeletal dysplasia, congenital heart defects1-3, multiple congenital malformation syndromes4,5, neurodevelopmental disorders, such as autism6,7, epilepsy8, intellectual disability9,10, and sporadic cases of various rare dominant Mendelian disorders, such as Schinzel-Giedion syndrome12, and Bohring-Opitz syndrome13. We are offering as an Introductory offer both GENESAFE COMPLETE test and PRENATALSAFE KARYO PLUS together for £ 2700 ( as opposed to £ 3000 ). Please Call us today on 01132008760 to take advantage of this Amazing Special Offer.

[bohringopitzsyndrome]

Interactive Visual Aid

Interactive Visual Aid on symptoms, concerns, and treatment options for ASXL1/Bohring-Opitz Syndrome.

It’s Bohring-Opitz Syndrome Awareness Day! This year we present Your Interactive Visual Aid (IVA) on the most common symptoms of Bohring-Opitz Syndrome (BOS), which have been described in the medical literature and case studies in recent years between 2006 – 2023. We also highlight treatment options noted in the important “Bohring-Opitz Syndrome” research. Although children with Bohring-Opitz…

[bohringopitzsyndrome]

Of course #BOSaware

On April 6th we celebrate Bohring-Opitz Awareness Day! Interactive Visual Aid This year we present this new Interactive Visual Aid on the most common symptoms of Bohring-Opitz Syndrome (BOS), which have been described in the medical literature and case studies in recent years between 2006 – 2023. We also highlight treatment options noted in the important “Bohring-Opitz syndrome”…

[bohringopitzsyndrome]

REACH on RDD'24

This special month there is a new update to the ASXL registry and we would like to share it on this unique day of Rare Disease Day the 29th! This registry was created to gather information about Bohring-Opitz syndrome and ASXL related disorders to provide a better understanding of these rare conditions for patients, caregivers and medical professionals. This newsletter reported the number of…

[bohringopitzsyndrome]

BOS Puberty Study

Last recruitment call for the BOS EEG Study. We are looking for 5 more people! Are your loved one the one to be part of this special study for Bohring-Opitz Syndrome? Our BOS family is strong because we learn from each other! We are grateful for the research opportunities focused on improving the lives of our children. Please consider taking the BOS Puberty Survey! How can you…

[bohringopitzsyndrome]

Newsletter ASXL Registry

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 the last ASXL conference, a…

[bohringopitzsyndrome]

Long awaited BOS publication

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,…

[bohringopitzsyndrome]

11 years ago in 2011

11 years ago in 2011

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 about Bohring-Opitz Syndrome to improve the lives of children and…