Rare Disease Day

rdd-facebook-coverToday 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!

Support children with Bohring-Opitz Syndrome by changing your social media profile picture with I support cause “Rare Disease Day and Bohring-Opitz Syndrome” or download this picture.

Thank you!

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Bewaren

Best Practice of BOS

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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.

» Best Practice of Bohring-Opitz Syndrome

Bewaren

XAN

This video about Xan is just too beautiful not to be shared. It touched me in so many ways. Xan has Bohring-Opitz Syndrome. His mother Danielle brings us in a stirring manner to consciousness how strong and inseparably but also so ethereal and impermanent love, light and life to our children are bound together, yet we are elevated by looking up at the beauty of our children.

Phenotypic spectrum of BRS – new study

In this study Dr Meena Balasubramanian present 12 new patients with de novo, heterozygous, loss-of function mutations in ASXL3 and review the to date published literature. Together with the recently published six patients of Kuechler et al. there are now 27 published cases of Bainbridge-Ropers Syndrome (BRS/BRPS). 

The patients, identified by the Deciphering Developmental Disorders study (DDD study), help to delineate the phenotypic spectrum of BRS (“severe intellectual disability (12/12), poor/ absent speech (12/12), autistic traits (9/12), distinct face (arched eyebrows, prominent forehead, high-arched palate, hypertelorism and downslanting palpebral fissures), (9/12), hypotonia (12/12) and significant feeding difficulties (12) when young”) and discovers a “second mutation cluster region within ASXL3“. Further the authors conclude a high frequency of Bainbridge-Ropers Syndrome.

»Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature

New images for Face2Gene

We are very excited that families of a child with Bohring-Opitz syndrome (BOS) have submitted until now 150 new images. A while ago we asked parents of the BOS family, united in the Bohring-Opitz syndrome support group, to help Face2Gene by uploading images of their children.

Face2Gene is a genetic search and reference tool powered by FDNA® (Facial Dysmorphology Novel Analysis) technology. Face2Gene, when used in conjunction with a clinical diagnosis, could be a useful addition to molecular studies, such as whole exome sequencing and could be an important contribution to the further phenotypic delineation of Bohring-Opitz Syndrome.

This is a tremendous success and we want to thank all the parents who helped Face2Gene to train the technology to become more accurate for the benefit of all geneticists and their patients.

» Read more about Face2Gene

 

 

KULUUT

We are so excited! The new Trailer of KULUUT is promising to be a great documentary. A documentary made by C Amzing Films about a family with an extraordinary child with a rare syndrome, the Bohring-Opitz Syndrome, but most of all about the happiness of the family, even when they experience some difficult times. See the BEAUTY! Coming soon!