Unique has published a new leaflet about Bohring-Opitz Syndrome (BOS)!
Written by Dr. Joanna Kennedy1 and reviewed by Professor Ruth Newbury – Ecob2 this information guide is an exceptional user guide designed to help families, caregivers, educators, and medical professionals, alike, understand and plan appropriate care for children with Bohring-Opitz Syndrome. Unique, winners of Eurodis Patient Organisation Award 2016, supports and informs anyone born with a rare chromosome disorder, their families and carers.
We are very grateful that also Bohring-Opitz Syndrome is included in the comprehensive offline database of family-friendly, medically-verified, disorder-specific information guides about rare chromosome disorders compiled by Unique and want to thank Dr. Joanna Kennedy and Dr. Ruth Newbury-Ecob for this outstanding publication.
Today, April 6th is marked by a global community of patients and their families living with Bohring-Opitz Syndrome (BOS) and it represents BOS Awareness Day!
We specifically use the word “marked” because using the words “celebrated” or “commemorated” could potentially stir up an entirely different set of issues. We’ve seen some parents write that Bohring-Opitz Syndrome should be celebrated. However, not long after such post another parent reminds us (as if we don’t already know) that other kids are medically sick, and moreover children have died due the consequences of Bohring-Opitz Syndrome. There are sibling who wish that their brother or sister is not “disabled,” marriages that are under pressure, couples who have become separated because the burden of having a child with Bohring-Opitz is very demanding, parents who need psychological assistance to survive the emotional drain of caring for their child. So in short, there is absolutely nothing to celebrate about Bohring-Opitz. Bohring-Opitz is no fun!
Someone once asked us the question…since we live it every day, do we need more awareness? If so, what type of awareness? An ‘awareness day’ occurs almost everyday in this world for something, but little is known about the impact or effectiveness of these awareness day events.
On the “world-wide-web,” “awareness” seems to mean sending a message, getting attention, and getting people to talk about the issue on social media. But what takes place on the day after the awareness day? And the day after that day…?
This year we took a step back and didn’t offer an online campaign for two reasons; 1) we didn’t want BOS supporters to feel that they had to choose between different campaign initiatives; and 2) there is already an abundance of online awareness actions. The possibilities to show your support for Bohring-Opitz Syndrome, and more specifically for the BOS Foundation is huge.
However, are we #BOSAware without an online campaign? YES, we are. We are #BOSAware every single day. Voluntarily. We all are. Today, and for the past six years by providing desperately needed information about Bohring-Opitz and engaging families to contribute to projects like Growth Charts, Best Practices, BOS Symptoms and Features, the BOS Map and Family Stories. We support current research studies and help to make diagnosing Bohring-Opitz syndrome easier with Face2Gene. We increase, extend and offer knowledge and informational resources to medical professionals worldwide who treat children with BOS. We assist medical professionals looking for participation in clinical trials and/or network connections with other medical professionals. We encourage and promote continuous research in order to improve the quality of life of our children.
We connect families and medical professionals everyday. We offer assistance to caregivers and families of newly diagnosed children via e-mail, phone, and personal visits. We help with language barriers and create a safe and friendly place to meet each other not just online within Support Group where practical, medical and emotional experiences and support is shared, but in person all over the world as families travel to meet-ups in the United Kingdom, the Netherlands, Italy and the United States. Together, all of our families are seeking answers and brainstorming ideas for solutions. We are mourning with our families and celebrating every little achievement of all of our children, which are huge milestones in our eyes. We do this every day!
We are very excited and proud that this year, April 6th, marks the sixth anniversary of the Bohring-Opitz Support Group. Our family has grown and together we have achieved a great amount of resources for our children. For this reason we want to use this day, April 6, 2017, the BOS Awareness Day, to thank Dr. John Graham and Dr. Bianca Russel and all of the researchers around the world for their engagement and continued Bohring-Opitz Syndrome research. We want to thank Face2Gene, the facial recognition software which helps to diagnose our rare genetic disease. We want to thank the BOS Foundation for participating in rare disease events and attending summits and conferences to help promote medical awareness in the United States.
But most of all we want to thank you, the families living with Bohring-Opitz Syndrome! Without your daily engagement, sharing of your experiences in raising a child with Bohring-Opitz Syndrome, your stories about partnering with doctors, finding helpful resources, and seeking answers, your stories of persistence and strength and hope, we would be lonely, and uninformed. You help to increase the knowledge of BOS and by collecting and publishing all your experiences and knowledge we strive to help one another and further encourage doctors and professionals to delve into this ‘knowledge’ database, which we hope motivates more future research.
We are grateful, we love, we aware with you! Thank you!
The study, published in the journal Scientific Reports, identifies the gene that causes Opitz C syndrome in the only patient diagnosed with this ultra-rare disorder in Catalonia, which affects only sixty people in the world. The identified mutation in the gene MAGEL2 coincides with the one seen in some patients with another minority disease, the Schaaf-Yang syndrome.
» Read here the article: Urreizti, R. et al. A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes. Sci. Rep.7, 44138; doi: 10.1038/srep44138 (2017)
Note: 1999 Axel Bohring suggested that six children either represented the severe end of the clinical spectrum of ‘Opitz trigonocephaly C syndrome’ or comprised a separate entity. Since then there have been further reports of individual patients with similar findings and the terms ‘Bohring’, ‘Bohring-Opitz’ and ‘C-like syndrome’ have all been used to describe this condition. Bohring-Opitz Syndrome are similar to Opitz C Syndrome with phenotypical overlap.
A big THANK YOU to you all who have given attention to Bohring-Opitz Syndrome on the international celebrated Rare Disease Day. Thank you for changing your profile picture to spread the word of Bohring-Opitz Syndrome and Rare Diseases, thank you for sharing information about Bohring-Opitz Syndrome like #BOSFACT and BOS infographic to give your family and friends the opportunity to learn more about our rare disease. Also a big shout out to the BOS Foundation who is tirelessly dedicated to children and families with Bohring-Opitz Syndrome. The sum of your individual contribution makes also this year’s Rare Disease Day again a very special day for us, affected by Bohring-Opitz Syndrome. Thank you!
On the occation of Rare Disease Day last year we published 29 #BOSFACTS. A year has past and these facts about Bohring-Opitz Syndrome are still up to date. The Rare Disease Day slogan is this year ‘With research, possibilities are limitless’. Let’s go for it!
#BOSFACT 1 RARE
Bohring-Opitz Syndrome is RARE – fewer than 60 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.
#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.
#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!
#BOSFACT 23 FOUNDATION
Established in 2015 by Carrie Hunsucker and Taylor Gurganus, the Bohring-Opitz Syndrome Foundation, Inc.- a 501c3 non-profit organization- is dedicated to improving the lives of people affected by BOS through the establishment of a medical advisory board, awareness Initiatives, and parent/patient advocacy.
#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!
Today is the international Rare Disease Day – 28 February 2017. This year it is all about RESEARCH. Research is the key to more knowledge and a better understanding of rare diseases like Bohring-Opitz Syndrome (BOS) with the aim of finding treatments and a cure. BOS is an ultra rare disease with less than 60 children presented in medical publications worldwide.
‘With research, possibilities are limitless’.
The amount knowledge about BOS started small, with just four patients presented by Axel Bohring in 1999. Over the years, especially after the causing gene mutation was discovered in 2011, more and more cases were presented, compared with each other, similarities and differences were observed and finally last year the first article in which potential treatments for children with Bohring-Opitz Syndrome are discussed was published by Bianca Russell and colleagues.
Research on BOS not only has been presented within case reports, but it has focused also on research on the ASXL1 gene in model organisms (mice model and human stem cells) to increase a better understanding of the disease (process). We are confident that through enhanced cooperation more research and knowledge will be generated, which will result in a significant step in improving the lives of people affected with Bohring-Opitz Syndrome.
The year 2017 has begun – the year of RESEARCH. Let’s get started!
Mendel’s laws, like any laws in science, are wonderful because they make predictions possible. A woman and man both carry a recessive mutation in the same gene, and each of their children has a 25% chance of inheriting both mutations and the associated health condition. Bio 101. In contrast to our bizarre new world of “alternate facts,” “multiple interpretations,” and “both are true” scenarios, science is both logical and rational. If an observation seems to counter dogma, then we investigate and get to the truth. That’s what happened for Millie and Hannah, whose stories illustrate two ways that genetic disease can seem to veer from the predictions of Mendel’s first law: that genes segregate, one copy from each parent into sperm and ova, and reunite at fertilization. (I’ll get to embryo engineering at the end.) Millie’s situation is increasingly common – exome or genome sequencing of a child-parent “trio” reveals a new (“de novo”), dominant mutation in the child, causing a disease that
PLOS (The Public Library of Science) is a non profit publisher and advocacy organization on a mission to lead a transformation in research communication. From its start, PLOS has engaged in debate about science and medicine.
Having a child with Bohring-Opitz Syndrome (BOS) is an ongoing learning process and can be challenging at times given the complexity of the illness, especially since there is still little known about the clinical management of children with Bohring-Opitz Syndrome.
We, parents and caregivers, are always looking to find the best way to improve the life of our BOS child. So we decided to give parents and caregivers of BOS children, who are united in our support group, the opportunity to contribute to the online survey “Best Practice for Bohring-Opitz Syndrome”.
This online survey is still open. Parents and caregivers of BOS children are welcome to submit their Best Practice. The link to the online survey can be found within our Bohring-Opitz Support Group.
We are very grateful that numerous responses were submitted! The responses include experiences, discoveries, and things (big and small) that the child’s parent, caregiver and doctor did to improve various symptoms and prevent complications. The vast majority of BP were submitted in the fields of gastroenterology and therapies. This reflects very well again, what parents of a BOS child believe should have the greatest attention. Namely, what can I do with great nutritional problems, and what can I do to make my child’s life better, easier, more tolerable, and joyful, and how can I encourage my child and enrich his world.
Although children who are diagnosed Bohring-Opitz Syndrome (BOS) have a lot in common, each child is different and unique and the variation in level of illness from one child to the next can be great. These Best Practices, experienced by parents, caregivers and doctors worked for this specific child. Therefore, we think it is important to present, discuss and consider these findings. We hope that more BOS children can benefit from these experiences. It is important to realize that given the complexity of the illness of each child, a Best Practice of one patient may not help another BOS patient. Each child should have an individual care plan, which is designed to meet the unique needs of the patient. The plan should be routinely followed, monitored, and adjusted as needed.
By collecting and publishing these experiences we strive to help one another and further encourage doctors and professionals to delve into these ‘best practice’ results, which we hope motivates more future research.
Last week Kuluut was selected as a semi-finalist for the Hollywood International Independent Documentary Awards. Charlotte Driessen, and therefore Kuluut, won the Award for First Time Filmmaker! This is the official certificate and a VIP invitation to the yearly festival in March 24, 2018, in Hollywood will follow. It was an honour for many of us to be part of this exceptional documentary and it would be a great opportunity for all our American fellows to see the film, too.
We are so happy that Kuluut, Charlotte Driessen and her crew and of course Coen and his family are honoured with the “Hollywood Internation Independence Documentary Award”. Congratulations!
Kuluut is a documantary about Coen and his family, living in the Netherlands. Coen has Bohring-Opitz Syndrome. This documentary shows how they found happiness despite of that or better just because they live with this very rare disease of Bohring-Opitz Syndrome.
Please visit and like Kuluut on Facebook to learn more about this amazing documentary and to be updated.
Today is the international 
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