BOS & ASXL Related Disorders Registry

Cincinnati Children's Hospital and Boston Children's Hospital

 

How it works

Patients and families (including angels) with BOS or mutations in ASXL genes are enrolled in our study which is approved by the hospital ethics committees. Parents complete simple questionnaires online about their child’s medical history and may submit photographs as well as test results and notes from their physicians. The information is kept on a secure server. Identified information can only be accessed by the researchers in charge of the study. Deidentified content may be available to other researchers, members of the registry advisory board, and the study participants.

Why it matters

Rare diseases are just that; rare! It is hard for physicians to know how to best take care of patients when little is known about the disease including treatment and expected clinical outcomes. But by joining together, families can share their experiences and knowledge by being involved in clinical registries. Your participation helps patients with BOS and ASXL mutations get better care by collecting important information that the medical community needs. A well run registry also helps produce scientific literature and leads to new research findings.

Our Registry

We have created short questionnaires that a busy family can answer in 15 minutes. Angels will only be surveyed once but we will continue to provide updates about the Registry. Our questionnaires are organized into categories and ask questions that are important to you and researchers. The Registry Advisory Board is composed of family members, researchers and BOS foundation members who help to make sure that the registry best suits the needs of the community. With appropriate enrollment, we hope to have 3-4 questionnaires in year one. Participants will be updated about their data via a regular newsletter.

Please contact us with questions and to enroll in this study at ASXLRegistry@cchmc.org.

Dr. Bianca Russell (Cincinnati)
Dr. Wen-Hann Tan (Boston)


 

Ultra-Rare Syndrome Celebrates Its Day in the Spotlight

Spreading Awareness for Bohring-Opitz Syndrome

Ultra-Rare Syndrome Celebrates It’s Day in the Spotlight

Orlando, Florida (April 3, 2017) This year marks the third annual Bohring-Opitz Syndrome (BOS) Awareness Day.  On April 6th, people from around the world will shine the spotlight on this rare disorder by wearing denim and gold, along with other awareness events.

BOS is an ultra-rare genetic syndrome with less than 60 documented cases in medical literature as of 2015.  This number is now estimated to be closer to 85 among parent advocacy groups, as new diagnoses are being made through more advanced and available genetic testing.  It wasn’t until 2011 that researchers were able to identify BOS was a result of a mutation on the ASXL1 gene.

Some of the clinical features of BOS include distinct facial features, feeding difficulties, postnatal growth retardation, abnormal neurodevelopment, sleep apnea, gastrointestinal issues (particularly cyclic vomiting), seizures, and intellectual disabilities.  Hypotonia (low muscle tone) and poor motor control are also common, and while many are in wheelchairs or require other assisted mobility, some are independently walking.

Despite the many challenges those with BOS face, they have a happy demeanor and often learn to adapt to the world around them.  Some are verbal, while others have learned to use communication devices or other adaptive methods to communicate.

The BOS community is very passionate and dedicated to educate others about the ultra-rare syndrome.  The hope is to increase the likelihood of more accurate diagnoses, gain the attention of researchers, and ultimately find potential treatments and best practices for BOS.

Parents have taken an active role by forming the BOS Foundation, Inc., which includes a medical advisory board and built a very active support group on Facebook with families from all over the world.  There is also a parent-run website that serves as a worldwide exchange of information and awareness on BOS.  All of these combined efforts have brought this ultra-rare syndrome to the attention of many within the rare disease and medical communities.

This is the third year of celebration for BOS Awareness Day, and marks an exciting year of international attention to the syndrome.  The first annual BOS Family meet-up was held in Philadelphia with fourteen families in attendance, the Kuluut documentary on BOS premiered in the Netherlands, BOS advocates were on Capitol Hill and attended summits and conferences throughout the year, and BOS families were featured on social media and a global art exhibit on Rare Disease.  To learn more about BOS and these exciting milestones, please visit www.bos-foundation.org.

Additional information on BOS can also be found here: www.bohring-opitz.org.

Contact:

Michelle Parke Doty

Bohring-Opitz Syndrome Foundation, Inc.

michelle@bos-foundation.org








 

BOS Advocates Participate in Rare Disease Events

Rare Disease Day was February 28th, offering many events in the United States and across the world.  The National Organization for Rare Diseases (NORD) sponsors Rare Disease Day in the United States, while EURORDIS sponsors the international day.  Members of the BOS community took advantage of many of these including Rare Disease Week on Capitol Hill and state advocacy events.

Over 600 rare disease patients, caregivers, researchers, and other advocates joined together in Washington, DC during Rare Disease Week on Capitol Hill February 27 through March 2, 2017.

Among those were BOS parents, Taylor Gurganus from North Carolina and Jill Morris from Virginia.  They were able to attend the event through stipends offered by EveryLife Foundation and the BOS Foundation.

On February 28, which was Rare Disease Day, both Jill and Taylor attended the Legislative Conference.  This was an informative session where experts from Capitol Hill and patient advocacy organizations lead conversations on what to expect from the new Congress and Trump Administration.  They taught valuable skills to cultivate effective relationships with Members of Congress and staff, along with key legislation impacting the rare disease community. 

The event was livestreamed for the first time and is available on the Legislative Conference resource page.  Organizations such as Global Genes, NORD, Coordination of Rare Diseases at Stanford (CoRDS), and EveryLife Foundation collaborated to make the week a success. 

The following day, Taylor and Jill attended Lobby Day, including a breakfast with remarks by Dr. Janet Woodcock, Director of the Food and Drug Administration's Center for Drug Evaluation and Research, as well as Representative Gus Bilirakis (R-FL) and former Representative Brian Baird (D-WA), who urged advocates to be brief, polite and persistent in their meetings with Members of Congress and staff.

Taylor met with staffers for Senator Richard Burr (R-NC), Senator Thom Tillis (R-NC), Rep. Walter Jones (R-NC), and Rep G.K. Butterfield (D-NC) who is also the co-chair for the Rare Disease Caucus.

Jill met with staffers for Senator Mark Warner (D-VA), Senator Time Kaine (D-VA), Congressman Tom Garrett (R-VA), and Congressman Donald McEachin (D-VA).

They both discussed the wonderful opportunity to learn about the important issues going on in Congress in terms of rare disease.  It was also a chance to learn more about the Affordable Care Act and the changes being proposed from both Democrats and Republicans. 

Jill said, “It was an experience that has prompted me to educate myself more on current legislation and how it will not just impact the children and adults with BOS, but for other people in my community.”

Taylor added, “This experience has opened my eyes to how important it is to advocate, not only medically, but politically as well.

They returned with a list of resources to pass along to the Foundation and anyone else interested in advocacy on a legislative level.  One of those resources was a state scorecard put out by NORD that rates each state on how their laws rate on issues pertinent to the rare disease community.  To see how your state scores, click here.

The NORD state scorecard is under their Rare Action Network (RAN), which is designed to connect individuals and organizations within states and provide the training and resources they need to become effective advocates for policies that support the rare disease community. You can sign up here to learn more.  

Other Rare Disease Day highlights included NORD's first PSA (Public Service Announcement) launching their year-long "Do Your Share" Campaign.  The PSA included Campbell Doty, who was just diagnosed with BOS, along with her mom Michelle. The campaign is designed to spread awareness about Rare Disease through sharing personal experiences of what it is like to live with a rare disease.  Talynn Gurganus and her mom, Taylor, were also featured on the “Do Your Share” website sharing their journey with BOS.  You can also share your story here.

Michelle and Campbell also attended Rare Disease Day in Kentucky at the State Capitol in Frankfort sponsored by NORD’s Rare Action Network (RAN).

The program gave a voice to several rare disease patients, caregivers, and advocates to tell their stories.  Kentucky Lt. Governor Jenean Hampton spoke and issued the proclamation of Rare Disease Day in Kentucky.

Michelle found it both educational and inspirational to see many separate smaller rare disease communities unite as one large group with the common goal of increasing awareness of rare disease and the struggles many face.

“It was nice to see many different groups represented while hearing some of the same issues such as lack of research and treatments.” Michelle said.  Her mother and sister came along to support Campbell and represent the BOS community.

If you would like more information about how you can be involved, please check out the many linked resources listed throughout this article, or contact Taylor at taylor@bos-foundation.org or Michelle at michelle@bos-foundation.org.

We're Partnering with The Mighty!

We're thrilled to announce a new partnership with The Mighty, a story-based health community focused on improving the lives of people facing disease, disorder, mental illness, and disability.  This partnership will bring our resources in front of The Mighty’s wide-reaching readership.

More than half of Americans are facing serious health conditions or medical issues.  The Mighty publishes real stories about real people facing real challenges.  Rare disease has always been prevelant on their site with a Rare Disease section and Facebook page.

We will now have a home on The Mighty and appear on many stories on the site.

Here is an example of one of the stories you might find on The Mighty: What Does It Mean to Be 'Rare?  You Told Us.

The Foundation is looking forward to sharing our stories, knowledge and resources to educate others about Bohring-Opitz Syndrome.  One of the best ways to help do that is by sharing your story.  We would love to hear from you if you are interested.  The Mighty does accept previously published pieces so if you have a blog you can submit ones you’ve already written. 

If you have a story you’d like to submit or an idea you’d like to see covered, please contact Michelle Parke Doty at michelle@bos-foundation for more information.