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. 

Bohring-Opitz Syndrome Receives International Attention

Bohring-Opitz Syndrome (BOS) has been gaining international attention this past week.  Carrie Hunsucker, Co-Founder of the BOS Foundation and her daughter Hazel, were the subject of a video produced by the popular Special Books by Special Kids. 

Chris Ulmer, founder of Special Books by Special Kids, interviewed Hazel and her mom as part of his video series featuring neurodiverse individuals. Ulmer, known as Mr. Chris, made an extraordinary connection with Hazel and said it was “one of the most beautiful moments of my entire life.”

During the video, Mr. Chris communicated with Hazel and every time he provided her the opportunity to respond, she would alternate the patterns of her clicks and responses.  She made eye contact and reached for his hand when he said "hello."  She then squeezed his finger multiple times to further their communication.

Carrie said, "At first I was hesitant to reach out to Mr. Chris for an interview. I warned him that Hazel was nonverbal and didn't communicate. Seeing him find ways to communicate with her during their short time together warmed my heart and gave me hope for a future in which Hazel can connect with me and others through her own means."

The interview demonstrated when you treat someone with dignity and respect they will be more open to communication.  By reinforcing Hazel’s attempts at communication, she continued to respond. Mr. Chris noted, “Because I’m coming from a place of positivity and acceptance, she embraces me”

The video was broadcast on Facebook, along with other social media platforms, gaining over 380,000 views on Facebook alone.

Special Books by Special Kids is a global multi-media movement that spreads empathy, understanding, and acceptance for neurodiverse individuals.  Mr. Chris’s popular video series highlights the joys, needs, and struggles of the special needs community.

The BOS Foundation would like to thank Mr. Chris and his staff, along with the Hunsucker family, for sharing this important story and raising awareness for BOS.

You can view the video on Facebook here or YouTube.  Please consider liking the Special Books by Special Kids Facebook page by clicking here.  You can also find more information on Mr. Chris's organization here.


Hazel and Mr. Chris shared an amazing bond

Hazel and Mr. Chris shared an amazing bond

The Hunsuckers met mice with BOS!

On Friday, November 18, 2016, our family had the opportunity to meet with two researchers at the University of Miami who are studying the gene that causes Bohring-Opitz Syndrome (BOS). Hazel, Greg, and I visited these scientists to learn more about current BOS research, and to find out how to further motivate and fund research on BOS.

Dr. Juan Young and Dr. Feng-Chun Yang were kind enough to meet with us for the morning so we could tour their labs, introduce them to Hazel, and learn about their research projects.

As many of you know, BOS is caused by a mutation on the ASXL1 gene. This mutation causes BOS at conception, but can also cause some forms of cancer when the ASXL1 gene mutates in adulthood.

First we met with Dr. Yang, who explained that she studies the molecules that cause cancer. She primarily researches mutations in the ASXL1, ASXL2, and ASXL3 genes. Her ultimate goal is to discover therapies to treat cancer.

Dr. Young is a neurobiologist who studies the genetic causes of inherited diseases. He works to create animal models who have genetic diseases. He is known for his work with a genetic disorder called Rett Syndrome. We are very fortunate that both doctors are medical advisors to the Bohring-Opitz Syndrome Foundation!

The doctors spent time giving us tours of their labs, introduced us to their colleagues and doctoral students, and were patient when our eyes glazed over at high-level scientific concepts. They were very interested in meeting Hazel, because neither had met a child with BOS before!

asxl1-mice

After learning about their research, Greg and I were able to reach the pinnacle of our visit — a chance to meet the mice that have BOS! Unfortunately, Hazel was not able to meet the mice (we promised her a trip to the pet store this week) because the animal model area is very sterile. We had to put on a ton of protective clothing, walk through an air bath, and wear masks so that we did not infect the mice with any outside contaminants.

Dr. Young brought us back to the mice room, and pulled out the tank containing the mice with BOS. The mice had just had pups in two of the containers, so we couldn’t disturb them. He pulled out an adult mouse and held it out for us to inspect. He then brought us to the mice testing area, where they have standardized tests and mazes to study things like anxiety, ability to learn, memory, and even empathy! We were amazed. We were able to ask Dr. Young about how the mice with BOS perform in the tests. He explained that the mice with BOS seem to have some learning disabilities and anxiety issues that typical mice do not have.

The purpose of testing the abilities of the mice with BOS is to eventually develop therapies that could help people with this mutation. This could even include gene therapy, which blew my mind. Imagine seeing gene therapy for children with BOS in our lifetime! (Let me make it clear that we are probably very far from this happening soon, but hey, one can hope.)

We then had to relieve Dr. Yang, who was kindly watching Hazel while we toured the animal model area.

Next, we met Dr. Mustafa Tekin, who is a clinical and molecular geneticist at U of M. He was gracious enough to meet Hazel between seeing patients at clinic, and we will be back to meet with him in clinic so that we can add to the knowledge mix of these researchers at the university.

So where do we go from here?

A BOS patient registry is going to greatly help further their research. One of our medical advisors, Dr. Bianca Russell, has one in the works, and is currently navigating the red tape involved with setting up a research registry. She hopes to launch it very soon, and it will be extremely important for all people affected by BOS.

Hazel meets BOS researcher Dr. Juan Young!

Hazel meets BOS researcher Dr. Juan Young!

Doctors Young and Yang are connecting us with other researchers and partners to help us spread awareness of BOS and continue to motivate BOS research. Hazel, Greg and I will be attending the ACMG Annual Clinical Genetics Meeting in Phoenix in March of 2017 to continue to network with researchers and spread awareness of BOS. Hazel and I will meet with the doctors at the University of Miami on a regular basis to touch base on research (and to check on the mice!).

We had an amazing day, and are inspired and filled with hope to see the passion and dedication of these researchers.

A huge thank you to Dr. Young and Dr. Yang for spending so much time with us!

To help the BOS Foundation continue our progress in motivating BOS research, please donate today! Your donations will help us attend the ACMG Annual Meeting in Phoenix in March as well as other rare summit events throughout the year.

Donate via PayPal: https://www.paypal.me/bosfoundation

or

Send a check to: Bohring-Opitz Syndrome Foundation, P.O. Box 560475, Orlando, FL 32856

Thanks for your continued support! All November and December donations of $20 or more will receive a BOS holiday ornament. Donate before December 10 to get yours before the holidays!

Carrie Hunsucker
Chair
BOS Foundation

(View the original post at: https://tinyandfierce.com/2016/11/29/we-met-mice-with-bos/)