The BOS Registry

BOS registry 10

Our best chance to help individuals who are affected by Bohring-Opitz Syndrome (BOS) is a registry that will collect important information about raising a child with BOS and their medical history and build a resource for a better understanding of this rare disease for patients, caregivers as well for medical professionals.

The amount knowledge started small, with just four patients presented by Axel Bohring in 1999. Over the years, more and more cases were presented and our BOS Family is still growing.

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.

»Learn more about the registry!

Thank you for considering having your child or BOS-Angel join the registry. Your participation makes the difference!

 

Merry Christmas!

MERRY CHRISTMAS AND A HAPPY NEW YEAR

Documentary worldwide

KULUUT, the documentary about Coen and his family finding happiness despite of living with a syndrome, can now be seen worldwide. Until now it was broadcasted just for the Dutch public, but now we all can enjoy this beautiful and eagerly awaited documentary worldwide! Coen has the rare Bohring-Opitz Syndrome and we, the BOS Family are extremely grateful that Charlotte Driessen made this film possible. Kuluut has won international attention and received several film awards. The documentary won a Hollywood International Independent Documentary Awards Award in the category of First Time Filmmaker, after that it won a Kudos Endeavor Award in the Docs Without Borders Film Festival competition and was also an official selection as a semi finalist in the Atlanta DocuFest.

Our thanks go out to the makers of KULUT and the wonderful family of Coen!

Merry Christmas!

Kuluut – English subtitles from Charlotte Driessen on Vimeo.

 

New cause for BOS?

Researchers have expanded the clinical spectrum of KLHL7 […] by describing a syndrome with features overlapping CS/CISS1 (Crisponi syndrome/cold-induced sweating syndrome type 1) and Bohring-Opitz Syndrome (BOS). At six patients with microcephaly, facial dysmorphism, including exophthalmos, nevus flammeus of the glabella and joint contractures with a suspected BOS posture in five out of six patients they found with whole-exome sequencing (WES) mutations in the KLHL7 gene.

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 centre discovered one genetic cause of Bohring-Opitz Syndrome. They found that seven of 13 examined patients with the BOS phenotype had the novo mutation in the ASXL1 gene. However another six children with clinical diagnosis of BOS didn’t have this mutation, this indicates that other genes may be involved in this syndrome suggesting clinical and genetic heterogeneity, meaning there must be at least one other cause of BOS.

»Bruel A, Bigoni S, Kennedy J, et al: Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype.

 

BOS inherited by germline mosaicism

“This is the first report of Bohring-Opitz syndrome caused by a mutation inherited from an unaffected, somatic mosaic parent with presumed germline mosaicism. This phenomenon has been reported for other traditionally de novo dominant disorders like CHARGE syndrome and Cornelia de Lange syndrome (2)(3). This case demonstrates that haploinsufficiency of ASXL1 is not lethal in the germline, and emphasizes the need for accurate low but non-negative recurrence risk counseling for families with children with Bohring-Opitz syndrome.” – Deborah Copenheaver et.al.

A rare case of Bohring-Opitz Syndrome

A large proportion of patients diagnosed with Bohring-Opitz Syndrome have a mutation in the ASXL1 gene. This case is different. Although the three-year-old girl from Malaysia showed different characteristics or Bohring-Opitz Syndrome, genetic analysis showed a 46xx – Bohring Opitz Syndrome overlapped with C syndrome.

» Read here the Case Report: Bohring-Opitz Syndrome – a case of rare genetic disorder by Nithiya Visayaragawan, Narentharen Selvarajah, Hema Apparau, Valuyeetham Kamaru Ambu, of the Tuanku Ja’afar Hospital, Seremban.

Surveillance Recomendation

A new publication in the AACR (American Association for Cancer Research) by Jennifer M. Kalish and colleagues about uniform tumor screening recommendations for rare syndromes with increased risk for Wilms tumor, hepatoblastoma and other embryonal tumors like Bohring-Opitz Syndrome. “In the 43 cases reported by Russell and colleagues (2015), two patients developed WT and one had nephroblastomatosis leading to a renal neoplasm incidence of 7%. The small number of reported patients with BOS and high infant mortality rate indicates that the true cancer risk may be higher than reported.” (Kalish, 2017)

Abstract:

“A number of genetic syndromes [as is the case here among other syndromes, the Bohring Opitz Syndrome has been described] have been linked to increased risk for Wilms tumor (WT), hepatoblastoma (HB), and other embryonal tumors. Here, we outline these rare syndromes with at least a 1% risk to develop these tumors and recommend uniform tumor screening recommendations for North America. Specifically, for syndromes with increased risk for WT, we recommend renal ultrasounds every 3 months from birth (or the time of diagnosis) through the seventh birthday. For HB, we recommend screening with full abdominal ultrasound and alpha-fetoprotein serum measurements every 3 months from birth (or the time of diagnosis) through the fourth birthday. We recommend that when possible, these patients be evaluated and monitored by cancer predisposition specialists. At this time, these recommendations are not based on the differential risk between different genetic or epigenetic causes for each syndrome, which some European centers have implemented. This differentiated approach largely represents distinct practice environments between the United States and Europe, and these guidelines are designed to be a broad framework within which physicians and families can work together to implement specific screening. Further study is expected to lead to modifications of these recommendations.” (Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma. Jennifer M. Kalish, Leslie Doros, Lee J. Helman, Raoul C. Hennekam, Roland P. Kuiper, Saskia M. Maas, Eamonn R. Maher, Kim E. Nichols, Sharon E. Plon, Christopher C. Porter, Surya Rednam, Kris Ann P. Schultz, Lisa J. States, Gail E. Tomlinson, Kristin Zelley and Todd E. Druley.

New Leaflet about BOS by Unique

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.

»Read Unique (Understanding Chromosome Disorders) : Bohring-Opitz Syndrome. Leaflet by  Unique 2017.


1 Academic Paediatric Trainee, Severn Deanery

2 MB ChB, MD, FRCP, FRCPCH, Consultant Clinical Geneticist, Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust

Happy Mother’s Day

Moms makes life beautiful – isn’t she lovely? Happy Mother’s Day!

Happy Mothers Day1

I am. We are. #BOSAware. Are we?

Are we BOSaware wp

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!

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