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!

Bewaren

Bewaren

29 Facts about BOS

29days

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!

Bewaren

Today is BOS Awareness Day!

profile picture BOS high 5On April 6th, the day that the first support group for families and carers of children with Bohring-Opitz syndrome (BOS) is created, is BOS Awareness Day! On this day we honor all the children, born with Bohring-Opitz Syndrome, their families and friends as well as all the caregivers of these children. For this day we make extra efforts to spread information on Bohring-Opitz Syndrome, a syndrome on which is still little known.

We are excited and proud that this year April 6th marks the day of the fifth anniversary of the support group. With the Facebook event “HIGH 5 for BOS” we want to thank all the families for helping each other by sharing their stories and experiences. Please join to show your support and to shed the light on all children with Bohring-Opitz Syndrome on April 6th, the Bohring-Opitz Syndrome Awareness Day! Thank you!



image

imagehover




High 5 for BOS

BOS high 5 fb banner 4

Give a HIGH FIVE for BOHRING-OPITZ SYNDROME! We are excited to celebrate that the first Bohring-Opitz Syndrome (BOS) SUPPORT GROUP will be five years old on APRIL 6th, the international Bohring-Opitz Syndrome AWARENESS DAY!

 

This initiative is creating a worldwide virtual high five chain in support of children with Bohring-Opitz Syndrome and their families for Awareness Day April 6th, and we need your help!

Read how you can participate: Send a virtual HIGH FIVE!

Help us to bring children living with BOS and their families and carers out of isolation and put them in the spotlight by wearing GOLD & BLUE DENIM on April 6th, too, and make sure you use #5forBOS!