The Bohring-Opitz Syndrome Support Group will be marking its 10th anniversary this April. We want to show our appreciation for the support we have received through the past 10 years.
April 6th, we will celebrate the families who are part of the Bohring-Opitz Syndrome Support Group. We will do this by sharing our stories through our website and social media channels. And we invite you to celebrate with us!
What was your most special moment/experience with the BOS support group in the past 10 years?
Will you help to share our story? Feel free to use the resources below, or create your own (video) message with the hashtag #BOS10Years. We will be really happy to see it on social media, so don’t forget to tag us on Facebook: @bohringopitzsyndrome.asxl1 and Twitter: @childrenwithbos and look forward to hearing from you.
It all began with a dream and an overwhelming abundance of hope that families would one day come together – families who all had one thing in common, the love for a child who is different and who has completely changed their life.
Celebrate 10-year anniversary of the BOS Support group with us
For many special needs families it is common to feel like nothing will ever will ever happen to relieve the suffering of their child, especially when the road to a cure is long and perhaps not achievable.
Join us our incredible journey and see what we have achieved in the last 10 years.
Bohring-Opitz Syndrome, BOS for short, is an ultra rare genetic condition caused by a mutation on the ASXL1 gene. The BOS Support group was created by Sünne van Gemert Godbersen on April 6th 2011. Her son Okke was part of research study conducted in the Netherlands that discovered the mutated gene that causes BOS.
Caring for a child with a chronic health condition like BOS is often very challenging. It can add even more stress on top of regular day-to-day challenges.
This group offers an immense amount of support. We share our knowledge with each other – We make everyone feel like they are no longer alone.
With this discovery, it is now possible to confirm the diagnosis with a genetic DNA test, as opposed to relying just on a clinical diagnosis through recognition of distinguishable physical characteristics in the appearance of the child.
Because genetic testing is priceless for identifying this rare syndrome, Dr. John Graham collaborated with GeneDX to make testing available for Families in the US.
At this point in time there were barely any published information for BOS families, yet our families began to learn that our children had many features in common which were not yet described in the medical journals.
So, Sünne from the Netherlands and Sheri from the United States (two Bohring Optiz Mothers) collected existing knowledge and made it accessible to all. Our goal was to spread and increase knowledge amongst medical professionals, parents, and caregivers worldwide with the goal of achieving better medical treatment options for our children.
This journey was one we could not have embarked on alone. We are very thankful for all the families who asked questions, supported one another, and contributed to our little research projects, like the list of symptoms that was documented by Anna Dogget of England and published on our website.
Anna is Ben’s nanny. Ben was initially diagnosed with Craniosynostosis and later was found to have Bohring-Opitz Syndrome.
We shared Family Stories to help and inspire families of newly diagnosed children to never give up. With the limited amount of medical knowledge available, us parents have become our children experts regarding this rare syndrome.
“If mothers from around the world didn’t share their experiences, they would have never been able to diagnose Eva.”
At this point in time the number of scientific articles was still increasing. Researchers around the world were working hard for a better understanding and hoped that one day this knowledge will result in therapies for BOS children.
Research commenced on BOS mouse models.
These mice, affected with an ASXL1 mutation showed similar BOS key features, such as small growth, bone loss, learning disabilities, and anxiety issues that typical mice do not have.
Over the years families have made their voice heard and shared their stories with local press and on online platforms.
2015 was an exciting year for the BOS Community!
The First Awareness Day was celebrated on April 6th, the day that Support group was created. Together we designed the BOS Awareness Ribbon with the contrasting colors yellow and denim blue, the awareness color for rare and genetic diseases.
The diamond was placed to honor all of our children who gained their angel wings too early.
This awareness day is intended to encourage people to learn more about Bohring-Opitz Syndrome and to improve the lives of children, their families, and their caregivers living with this rare genetic condition.
In 2015 More Families made themselves heard and shared their stories.
Bianca Russell & Wen-Hann Tan are two doctors who are very committed to the BOS Family, they authored the very first medical publication on the Clinical Management of syndrome. Currently, there is no cure for Bohring-Opitz Syndrome. However, treatments may improve various symptoms and prevent complications.
We also created an Infographic that was made available in different languages.
The BOS Foundation started their work to raise more awareness.
This foundation was founded in 2015 by Carrie Sabin Hunsucker and Taylor Gurganus. Now Anita Ross is the Foundation Chair.
This organization holds several fundraisers on a yearly basis to facilitate sympathy gifts and financial scholarships for individuals with Bohring-Opitz Syndrome.
In addition, the foundation organizes annual meet ups for families in the United States.
Included on the Bohring-Opitz Syndrome website is the Map documenting the location of BOS Children worldwide. This map provides the opportunity for us to find and connect with each other over the phone or by e-mail …. It some cases it has lead families to even meeting each other face-to-face.
This map shows that Bohring-Opitz Syndrome knows no borders. Families are living around the world in more than 40 countries and speak many languages.
One common fear of parents, is if their child is not growing sufficiently or enough. For this reason, we developed what we call the BOS Growth Chart to provide assurance and knowledge about how our children typically grow.
Although children with Bohring-Opitz Syndrome look very much alike at birth, they are all unique INDIVIDUALS. Not one child is alike and there are different levels and degrees of the symptoms these children present. Once you meet one child with BOS, you cannot assume that all BOS children are the same. They are all unique individuals, regardless of the mutation on the ASXL1 gene that they have in common.
Now this is Exciting!! Who knew that a movie about a child with Bohring-Optiz Syndrome would be made! Well this really happened. Charlotte, a cousin of Coen made the first documentary about Coen and his family: Kuluut.
In the movie, Coen is 4 years old and has Bohring-Opitz Syndrome. This film about happiness and strength has won several international awards and has even found its way to Hollywood!
We parents and caregivers, are always looking to find the best way to improve the life of our BOS child. By collecting and sharing best practices and experiences, we strive to help one another and further encourage doctors and professionals to delve into more future research to improve various symptoms and prevent complications.
We as parents, along with scientists, agree that children with BOS greatly resemble each other. Parents of the Support Group, are supporting the FDNA (Facial Dysmorphology Novel Analysis) project called ‘Face2Gene’. Face2Gene a genetic search and reference tool (facial recognition software) that helps ensure an early and accurate diagnosis.
The BOS & ASXL REGISTRY focused on the natural history, management and treatment of patients with Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome (ASXL2) and Bainbridge-Ropers Syndrome (ASXL3).
Researchers from institutions around the world have access to this free, available patient data and dna samples, which they can use for clinical and scientific studies.
Because of the BOS/ASXL Patient Registry, Bianca Russell, together with Wen-Hann Tan and John Graham, where able to publish a comprehensive open-source publication on Bohring-Opitz Syndrome.
The patient-driven ASXL Rare Research Endowment Foundation, ARRE, has reached major milestones since its beginning in 2017. To date it has raised over $1MM for ASXL research.
This Foundation will provide sustainable support for evidence-based research. It brings together medical and scientific leaders to study ASXL genes and clinical challenges to increase our understanding and improve the treatment of individuals with congenital ASXL mutations.
At the first-ever ASXL Research Symposium physicians, researchers, providers, and families from around the US and Europe gathered together in Los Angeles, California.
Prior to the Symposium, ASXL geneticists facilitated a medical clinic for families where they obtained critical data for the curated registry. They also collected skin biopsies & blood samples for a new ASXL biobank at UCLA. The biobank makes cell lines available for researchers around the world who want to study ASXL syndromes.
ARRE Foundation also arranged for ASXL syndromes to be included in FaceBase, an NIH database and toolset that aims to enable clinical diagnosis of various conditions using 3D facial photographs.
The second conference took place at the University of Michigan where more than 20 scientific and clinical speakers and over 30 families participated. This conference included a Professional Research Symposium, as well as Family Informational Workshops. Topics included special needs trusts & conservatorship, augmentative communication, Make-A-Wish, social worker support, and Adapted Activities & Family Fun Day. Furthermore, Clinical Presentations & Registry Enrolments were conducted.
The contribution to the NIH FaceBase and the ASXL Registry and biobank by families has yielded a great collaboration of researchers.
Unfortunately, the 2020 Professional Research Symposium scheduled to take place at Boston Children’s Hospital was cancelled due to COVID. We are happy to announce that the Summer 2021 ASXL Family Conference will be held virtually.
AЯRE has approved 5 strong, diverse scientific and clinical research proposals from qualified researchers which will be funded for the 2020 -2022 cycle.
Between 1975 and 2011, only a total of 14 medical articles were published.
However, in the past 10 years, researchers worldwide have continued to share their knowledge about the Bohring-Opitz Syndrome. Their efforts have yielded an additional 24 publications since the ASXL1 gene mutation was discovered.
All this collaboration helps to increase knowledge within the medical profession, as well as make it easier for parents and caregivers to provide better care for all our beautiful children.
10 Years, We cannot believe how quickly time has gone by and what we have reached together.
You are an important part of our journey and we are fortunate to have you and your support to achieve the impossible together! we are looking forward to our next 10 years!
We would like to thank all donors, volunteers, and ASXL families for your support!