German living in The Netherlands together with my husband and mother of four, writing about the rare disease Bohring-Opitz Syndrome (BOS) of my first born son at bohring-opitz.org and founder of the BOS support group on Facebook.
“Infant massage is a supportive intervention with documented positive effects in medically-fragile infants, suggesting its potential as a non-pharmacological treatment in Bohring-Opitz Syndrome (BOS).”
The boy, born after 32 weeks of pregnancy, exhibited typical characteristics of Bohring-Opitz Syndrome: chronic respiratory problems and infections, nutritional problems, epilepsy and prolonged sedation wean. The doctors gave infant massage about 15 minutes a week on hands and feet, with the aim of lowering the heart rate. A reduced heart rate was measured after all massage sessions. The massage, given over a period of 3 months, decreased non-purposeful body movements, increased tactile orientation as well as improved nutritional intolerance and resulted in a timely discharge from the hospital.
The doctors concluded that patients with Bohring-Opitz Syndrome can benefit from infant massage. They suggest that further research is needed to integrate infant massage into the clinical treatment of patients with BOS for better health outcomes.
Parent of a child with Bohring-Opitz syndrome often face the question: “What is the best we can we do for our child?” and making a good choice out many therapies isn’t easy. To find out which therapies our children can benefit from, the Bohring-Opitz Parent support group is a good source to learn from each other. But for doctors it is slightly different, they cannot base their treatment on experience reports out a support group and information about clinical management of patients with BOS is limited. Only when a (scientific) study has been published about different therapies and treatments, they may be seriously considered whether it will benefit their patient. For this background we welcome and appreciate that therapies and treatment options for patients with Bohring-Opitz Syndrome are continued to be published, so that perhaps other children can benefit from it.
Read here the article: B Herd, J Chiang, M Patterson, V Regueiro, C-62 The Physiological Effects of Infant Massage Techniques in a 17-month-old Patient with Bohring-Opitz Syndrome, Archives of Clinical Neuropsychology, Volume 34, Issue 6, August 2019, Page 1091, https://doi.org/10.1093/arclin/acz034.224
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, not only us the parents, but also all those around her. She positively changed our vision of life and of the afterlife, forever.
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 in Ann Arbor, Michigan on July 19-21.
Other than last year, the BOS Foundation decided not to partner with the AЯRE Foundation. Instead, they will facilitate their own Meet-up for Bohring-Opitz Families only, which will take place in Philadelphia just a week later.
At the BOS foundation event too, families will have the opportunity to get an update on the ASXL registry by Bianca Russell and Wen-Hann Tan and to give blood samples for the ASXL Registry. Furthermore, the BOS Foundation invited Dr. Samantha Vergano to speak on her latest project with NORD, which we are curious about. Similar to what the AЯRE Foundation organized at the first ASXL Conference in Los Angeles, here too, there will be an opportunity to take 3D pictures facilitated by Facebase.
The ASXL Conference brings professionals and families with an individual having either Bohring-Opitz, Shashi-Pena or Bainbridge-Ropers Syndrome together. It is an extraordinary opportunity for families and medical healthcare providers to meet each other in a casual fun way and to learn from each other.
This years conference will be bigger and better than all related events of the past:
– More than two dozen speakers and presenters!
– Livestream presentations!
– Workshops and presentations designed for families with topics like special needs trust, CBD treatment, respiratory tract issues and lots more
– Latest knowledge from the ASXL registry, lead by Bianca Russell and Wen-Hann Tan.
– Get your own 3D photograph taken and helpresearchers to further develop the ASXL representation in the Facebase-3D Project sponsored by the National Institute of Health.
– Possibility to participate in a video about diagnosis, finding a community, and the patient experience created by Simmons VIP.
– Fun activities at Revel & Roll, Picknick at Washtenaw County’s County Farm Park and catered lunch and dinner.
– And last but not least don’t miss the special guests: therapy dogs!
Friday
Learning from the first conference the AЯRE Foundation the Friday agendas is now split in two parts: one for professionals, hosted at the University of Michigan (family attendance is optional) and one especially for families, hosted at the Hilton Garden Inn Ann Arbor.
Source: AЯRE Source: AЯRE
Free lunch will be catered at both the family’s and professional’s event. The ASXL Family Dinner at Revel & Roll (including adaptive Bowling & Arcade) is wheelchair accessible and transportation from the hotel to the dinner will be provided.
Saturday
The Medical Research & Family Day on Saturday is especially designed for families. It offers different workshops and the opportunity to contribute to the Simons VIP & ASXL Biobank and to ASXL Registry enrollment. We can’t emphasize enough the importance of creating the cell lines necessary for entire ASXL research, including for Bohring-Opitz Syndrome. Same as last year you can have your 3D picture taken by Facebase Project, and meanwhile help the researchers in their goal to provide better diagnosis by isolating the shape variation associated with specific syndromes.
Source: AЯRE
Sunday
Source: Washtenaw Country’s County Farm Park
Sunday is Fun-day: Meet each other at Washtenaw County’s County Farm Park, exchange on your learnings from Friday and Saturday activities or just have some fun on the farm’s ADA (Americans with Disabilities Act) accessible playground .
If you are unable to attend in person, please be sure to sign up online if you’d like to join the livestream video feed. Please go to arrefoundation.org for registration information.
Don’t miss this incredible opportunity, not just for yourself but to bring all your fellow families a significant step towards a better life for all ASXL individuals and their families, including Bohring-Opitz Syndrome!
We can’t wait and look forward to see you in Ann Arbor!
Here 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!
Download here your Bohring-Opitz Jumping BOS Dad – Colouring Picture
“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
The 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 more!
Registration & Scholarship
Registration is FREE of charge for all families. AЯRE Foundation will be subsidizing hotel rooms for ALL families at the 2019 ASXL Conference. Travel scholarships are available for families in need. Please visit the website to complete this simple form and apply.
Family participation at the conference (in person and virtually) is critical to keep momentum and engagement with the medical and scientific community.
Gold and Denim for Bohring-Opitz Syndrome Awareness Day April 6th
Good morning dear BOS Family,
Today,
April 6th is 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!
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 their families and caregivers
living with this rare genetic condition.
Why this colors? Many children with
Bohring-Opitz Syndrome are suffering from high myopia. Contrasting colors like
blue and yellow are the best perceived colors. Bohring-Opitz Syndrome is a rare
genetic condition. Less than 60 cases are reported in medical literature
worldwide. These are official numbers but here in our support group the number
is now estimated to be closer to 200 families. However, throughout new
diagnoses and available and better genetic testing, the number of children diagnosed
with BOS became significant higher, Bohring-Opitz Syndrome is still ultra-rare
and underdiagnosed. So that’s why we chose blue denim as awareness color for
rare and genetic diseases. The second color is gold because our children love
shimmering objects. And above all, our children are worth their weight in gold.
The diamond is to honor all our children who became wings too early.
We are excited to see so much engagement for us, the BOS Family.
The AЯRE Foundation was born to support research that will increase our understanding of the ASXL genes and to improve the treatment of individuals with congenital ASXL mutations.
The leading cause for Bohring-Opitz is a mutation in the ASXL1 gene. ASXL1 belongs to human gene family with 3 members (ASXL1, ASXL2 – Shashi-Pena, and ASXL3 – Bainbridge-Ropers). There are many similarities between these three groups and they have much more in common than different.
However we sometimes have the feeling that
too little is known about the syndrome,
researchers are continue working on Bohring-Opitz syndrome. Did you know
that in the past year that more than 10 new publications have been published
about BOS?
We would like to highlight the work of Dr. Bianca Russell and Dr. Wen-Hann Tan, who have done amazing progress in the research history of Bohring Opitz Syndrome due creating the Bohring-Opitz Patient Registry. If you haven’t enrolled yet, please consider to participate to the patient registry. Only research is creating new knowledge!
We are optimistic for the future of the BOS Family and looking forward to see all your personal creations and how you mark this special day! Let’s bring together children living with BOS, their families and caregivers out of isolation and put them in the spotlight by wearing GOLD & BLUE DENIM on April 6th!
Did you know that more than a half (55%) were not suspected to have Bohring-Opitz? Read and watch more interesting findings of the BOS Patient Registry by Dr. Bianca Russell en Dr. Wen-Hann Tan!
Dr. Bianca Russell received her bachelors degree from Connecticut College in New London, Connecticut in 2008 and her medical degree from the University of California, Irvine in 2013. She completed her residency in Paediatrics and Human Genetics at the Cincinnati Children’s Hospital in Cincinnati, Ohio and will be a Genetics attending at UCLA beginning in June of 2018. She has focused her career and research on clinical genetics with a particular interest in the management of genetic conditions including Bohring-Opitz Syndrome.
On the occasion of Rare Disease Day we published 29 #BOSFACTS two years ago. Annother year has past and these facts about Bohring-Opitz Syndrome are still up to date. But there are important news for the Bohring-Opitz Family:
Research on Bohring-Opitz Syndrome are still going on and more medical articles about Bohring-Opitz Syndrome are published. The BOS & ASXL REGISTRY is here! More and more BOS Families enrol the BOS Patient Registry and help in building up the “Bohring-Opitz Syndrome (BOS) & ASXL related Registry”. This registry, created by Dr. Bianca Russell and Dr. Wen-Hann Tan, is a milestone in the history of Bohring-Opitz Syndrome and will result in a significant step in improving the lives of people affected with Bohring-Opitz Syndrome.
Last year the ASXL Rare Research Endowment (AЯRE) Foundation (www.arrefoundation.org) is launced! AЯRE will provide sustainable support for evidence-based research that will increase our understanding of the ASXL genes and improve the treatment of individuals with congenital ASXL mutations. This year this foundation will organize the second ASXL Conference for researchers and families.
And last but not least the Hollywood award winning documentary KULUUT can now be seen worldwide.
#BOSFACT 1 RARE
Bohring-Opitz Syndrome is RARE – less than 100 children are published in medical articles since 1999. The largest number of children live in USA and UK, in other countries there are just 1-3 children diagnosed with Bohring-Opitz Syndrome.
#BOSFACT 2 INTERNATIONAL
Bohring-Opitz Syndrome knows no borders. Children with BOS lives around the world in 28 countries and speak many languages.
#BOSFACT 3 NAME
Bohring-Opitz Syndrome owes its NAME to the geneticists Axel Bohring and John M. Opitz. The terms ‘Bohring’, ‘Bohring-Opitz’ and ‘C-like syndrome’ have all been used to describe this condition. Because Frank Oberklaid reported another case there is also the name ‘Oberklaid-Danks-Syndrome’ for ‘Bohring-Opitz-Syndrome’.
#BOSFACT 4 PUBLICATIONS
Since 1969 there have been 27 PUBLICATIONS on Bohring-Opitz Syndrome. Two articles are milestones in the medical history of BOS: 2011 the discovery of one genetic cause by Alexander Hoischen and 2015 the article of Bianca Russell who first presented treatments.
#BOSFACT 5 GENETIC CAUSE
Prior to 2011, geneticists relied on making a clinical diagnosis by recognizing the distinguishable physical characteristics in the appearance of their patients. In 2011, researchers at the Radboud University Nijmegen medical center used “next generation sequencing” to find the novo mutation in the ASXL1 gene as one GENETIC CAUSE of Bohring-Opitz Syndrome.
#BOSFACT 6 HETEROGENEOUS
BOS is genetically HETEROGENEOUS, meaning there must be at least one other cause of BOS. Because other children with a clinical diagnosis of BOS didn’t have this mutation, this indicates that other genes may be involved in this syndrome or that a somatic mosaicism should be considered as cause in patients with a typical phenotype and no detectable mutation.
#BOSFACT 7 TREATMENT
2015 Bianca Russell and colleagues published an article about Bohring-Opitz Syndrome. Beside the presenting of eight new patients, in this article TREATMENT options were discussed for the first time and the authors suggests certain patients with Bohring–Opitz syndrome should be monitored for Wilms tumors.
#BOSFACT 8 RESEARCH
Researchers around the world are working hard for a better understanding of Bohring-Opitz Syndrome. Investigations like the ongoing sequencing campaign in Spain, RESEARCH on “mouse models” and a German study of the mechanism of ASXL1 gene in human stem cells brings us a step further that one day these knowledge will results in therapies for BOS children. Update: The BOS & ASXL REGISTRY is here! We need your help in building such a resource and encourage you to become part of the “Bohring-Opitz Syndrome (BOS) & ASXL related Registry”. This registry, created by Dr. Bianca Russell and Dr. Wen-Hann Tan, is a milestone in the history of Bohring-Opitz Syndrome and the more people registered, the more valid and valuable the information becomes, which will result in a significant step in improving the lives of people affected with Bohring-Opitz Syndrome.
#BOSFACT 9 SUPPORT
This year our Support group on Facebook is 5 years old. The group was started on April 6th 2011 just with a few families. Now there are almost 100 families of children with BOS united. This group offers so much SUPPORT and all the parents and caregivers there are amazing by helping each other. They all make these group so successful.
Update: This year we will celebrate our 8th birthday!
#BOSFACT 10 ANGELS
BOS children are ANGELS. Many children have passed away far too early. Bohring-Opitz Syndrome is a life limiting genetic condition with a high infant mortality.
#BOSFACT 11 HOPE
There is HOPE – Bohring-Opitz Syndrome is not as severe in all cases than originally foreseen, children could even reach adulthood. When the novo mutation on the ASXL1 gene were discovered, many children have finally gotten the diagnosis at a later age by WES (Whole Exome Sequencing).
#BOSFACT 12 ENGAGED
Parents around the world are pretty much ENGAGED by sharing their experiences in raising a child with Bohring-Opitz Syndrome. There are stories about partnering with doctors, finding helpful resources, and seeking answers… but mostly there are stories of persistence and strength and hope
#BOSFACT 13 HAPPINESS
Children with Bohring-Opitz syndrome loves to play with shiny and sparkling objects. They love music and can’t get enough cuddles.
#BOSFACT 14 EMOTION
BOS kids feel like us: they have the same EMOTIONS. They are frightened, feel anger and pain. They have joy and happiness.
#BOSFACT 15 STRONG
BOS kids are vulnerable but also incredibly STRONG and brave.
#BOSFACT 16 DEVELOPMENT
Many children are diagnosed with ACC (Agenesis of the Corpus Callosum), a congenital (lifelong) brain abnormality. Common characteristics associated with ACC like vision and hearing impairments, low muscle tone, feeding and sleep difficulties, seizures, to name but a few, affect the DEVELOPMENT in different. But children with Bohring-Opitz Syndrome develop, they learn at their own pace.
#BOSFACT 17 INDIVIDUAL
Although children with Bohring-Opitz Syndrome looks very alike at birth, they are all INDIVIDUALS. Every child is unique and there are different levels and degrees of symptoms. Knowing one child with BOS, does not mean that all BOS children are the same. They are all individuals, regardless whether they have the same mutation on the ASXL1 gene.
#BOSFACT 18 BEAUTIFUL
Children with Bohring-Opitz Syndrome are BEAUTIFUL!
#BOSFACT 19 RESPECT
The word “retarded” is offensive, it hurts. Children with Bohring-Opitz syndrome deserve RESPECT.
#BOSFACT 20 WILLING
There was a time when parents were encouraged to send their BOS babies to mental institutions. What you see now is the hard work and determination of parents WILLING to fight the battle for their children, and for the many that have followed.
#BOSFACT 21 MEANING
Bohring-Opitz Syndrome is much more than just a medical diagnosis, a child with or without BOS has a MEANING, they are valuable!
#BOSFACT 22 DOCUMENTARY
The premiere of the DOCUMENTARY Kuluut will be coming soon. Kuluut is a documentary about Coen and his family. Coen is 4 years old and has Bohring-Opitz Syndrome. This film is about happiness and strength!
Update: The award winning documentary KULUUT is a great success and is now seen worldwide also with English subtitles!
#BOSFACT 23 FOUNDATION
Established in 2015 by Carrie Hunsucker and Taylor Gurganus, the Bohring-Opitz Syndrome Foundation, facilitate birthday/sympathy gifts to individuals with Bohring-Opitz Syndrome who have joined their Birthday club. The Foundation also sends welcome baskets to patients who are newly diagnosed with Bohring-Opitz Syndrome. Furthermore, the foundation organizes an annual meet up event in the United States.
Update: This year the AЯRE Foundation will have her 1st Anniversary. The AЯRE Foundation is the first foundation who supports and finances research on Bohring-Opitz, Shashi-Pena and Bainbridge-Ropers Syndrome, all on ASXL Family!
#BOSFACT 24 EQUAL
The number of boys vs girls having Bohring-Opitz Syndrome is EQUAL. According to our knowledge there is no indication that Bohring-Opitz Syndrome is related to gender.
#BOSFACT 25 CHALLENGING
The list of ailments and physical characteristics associated with Bohring-Opitz Syndrome is long but some main health problems like feeding difficulties and respiratory issues are common. The fact that still little is known and every child is unique makes it CHALLENGING to adapt the best treatment the child.
#BOSFACT 26 CURE
Currently, there is no CURE for Bohring-Opitz Syndrome. However, treatments may improve various symptoms and prevent complications.
#BOSFACT 27 INVOLVED
Families of children with Bohring-Opitz Syndrome are not alone. The engagement of family, friends, caregivers and medical professionals is huge! Doctors and nurses worldwide are working hard to work with us for solutions and to make life with Bohring-Opitz Syndrome better.
#BOSFACT 28 EXPERT
Parents know their child best – they become an EXPERT of their child. Together with professionals they strive to make living with Bohring-Opitz Syndrome optimal.
#BOSFACT 29 LOVE
BOS children teach us the true meaning of unconditional LOVE!
We would like to share you the amazing journey of the AЯRE Foundation.
ASXL Rare Research Endowment (AЯRE) Foundation was launched in April to
support research that will increase our understanding of the ASXL genes
and to improve the treatment of individuals with congenital ASXL
mutations, and it has been quite a year! These are some of our favorite
moments:
2019 calendars still available! Give the gift of support for children with all types of ASXL syndromes. From December 1, 2018 through January 31, 2019, anyone who donates $30USD or more to AЯRE will receive a beautiful 2019 AЯRE Foundation Calendar.
Thank you for being part of our AЯRE community. We wish you a joyous, festive and happy holiday season!
