The BOS Foundation hosted the 2nd Annual BOS Family Meet-Up in Philadelphia on July 29th. Fourteen families were in attendance and all had a wonderful time of fellowship and networking with others in the BOS community. Click here to read more.Read More
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.
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)
This April, we launched the #BOSAware campaign to raise awareness for Bohring-Opitz Syndrome. We had people from all over the world participate by posting pictures with the #BOSAware hashtag, along with events to commemorate the day.
But what does it really mean to be BOS Aware? It isn’t just sharing pictures or wearing gold and navy, although those are very visible ways to show your support. Spreading awareness is also sharing your story with geneticists or other medical professionals, hosting a fundraiser to raise money to go towards research, writing a blog post about your journey, or lobbying to make changes in laws regarding rare disease. These are just a few ways to be involved in raising awareness for BOS.
We would like to hear from our BOS community on what it means to you to be #BOSAware, so we are starting a blog series featuring various people describing why they are #BOSAware in their own words.
Our first feature is Jill Morris and her son Vaughan who explain why they are #BOSAware:
"BOSAware for us means many different things. It means bringing the knowledge of Vaughan's condition and all those who have BOS or who are affected by it, to the forefront. Whether it be doctors, researchers, therapists, politicians or even people in our community and educating them on what it is and how it impacts our lives. It also means advocating for acceptance and understanding of not just those with BOS, but with those with differing abilities. That those living with disabilities are important members of society and have many valuable contributions to make to the world we live in. Just because someone can't do something or doesn't do something the same way others do, doesn't mean that they aren't important or that they can't make the world a better place."
- Jill Morris
Jill has spread awareness for BOS on Capitol Hill during Rare Disease Week and shared their story with the Warrenton Lifestyle Magazine in May 2017. We appreciate Jill and Vaughan for all the do for the BOS community!
If you would like to submit why you are #BOSAware, please contact email@example.com.
In January of 2014 when Taylor and Chad Gurganus had their first child, Talynn, they knew something was wrong. Born at thirty-five weeks, Talynn spent three and a half weeks in the NICU due to respiratory and feeding issues.
During that time, doctors began to suspect she had a genetic condition after testing showed she had partial Agenesis of the corpus callosum (ACC), along with other genetic markers such as a flat nasal bridge, simian crease on both hands, and mild hip dysplasia, to name a few. However, initial chromosome testing came back negative and they were left without answers to the cause of Talynn’s issues.
Reflecting on her daughter’s first year of life, Taylor said, “She was hospitalized every month. The hardest part was being admitted to the hospital and the doctors not having a clue how to help Talynn. My mom and I spent many nights texting back and fourth looking for all types of rare syndromes.”
Taylor recalls going through multiple websites and wading through lists of different syndromes but still not finding answers. It wasn’t until November of that year when they received a call from their genetic counselor saying they suspected Talynn had Bohring-Opitz Syndrome (BOS), did the pieces to the puzzle start to come together.
While having a potential diagnosis was somewhat a relief for the Gurganus family, researching the condition online was another story. With BOS being an ultra-rare syndrome, there wasn’t a lot of information online at the time and some of it was hard to read.
“A lot of what I read was negative and hard to accept. Being told your child only had a 50% chance of survival past age one was not something to be excited about. However, I knew that we would do all we could to make sure this did not define Talynn and we would make sure we made her life enjoyable.” Taylor recalled.
As Taylor began to learn more, she joined the BOS support group on Facebook and found other families going through similar experiences. That was when she met Carrie Hunsucker, and her daughter Hazel, who was diagnosed a few months after Talynn who had finally received an official diagnosis in January 2015. The two moms connected and began sharing information. It wasn’t long before they realized they had common goals leading them to establish the BOS Foundation.
Taylor didn’t want anyone to have to go through the uncertainty that comes with having a child that is undiagnosed. She has made it her mission to help raise awareness so that others can get an accurate diagnosis, hopefully sooner than later. She also strives to share accurate information from the growing research on the ultra-rare syndrome and providing patient/family support, including the positive side to raising a child with BOS.
While BOS is a complex syndrome, there is hope and help out there; something that Taylor has been passionate about educating others. “These children are blessings and it needs to be known,” Taylor said.
One example of how much has changed in the short time since her daughter was diagnosed is that BOS is no longer considered to have a high infant mortality rate, something Taylor struggled with early on. The new finding was announced in April of this year when Dr. Bianca Russell, a leading geneticist in BOS research, presented at a genetic conference. This was a huge finding and something to bring hope to those with BOS and their families.
Taylor also develops patient support and educational materials for the Foundation, including a BOS Key Features Document that contains valuable information for patient families, caregivers, and medical professionals. She joined other moms in the BOS support group to establish an Annual BOS Awareness Day in April and helped organize two Family Meet-Ups in the United States with the Foundation, creating a sense of community that spans across the world.
Another area she focuses on is social media, including her personal blog Talynn’s Journey: Bohring- Opitz Syndrome and Facebook, Twitter, and Instagram for both her blog and the Foundation. It was through Instagram that Taylor had one of the greatest moments where she knew she had made a difference.
She came across a photo of a ten-year old girl who was undiagnosed. Her pictures reminded Taylor of her daughter, and many of the BOS kids, so she took a leap and reached out to her mom asking if they had looked into BOS as a diagnosis. It just so happened they were going through whole exome sequencing (WES) at the time. Because of this, the family took the information Taylor shared to the geneticist to consider BOS as a possible diagnosis.
A few months later, Taylor recalls getting a very excited message from the mom that her daughter had in fact received an official diagnosis of BOS. She explained what a relief it was to finally know after ten years and how important it was to have the support of others in similar situations.
“I knew then I had made a difference for someone in the BOS community,” said Taylor.
She also points out how much the BOS community has grown in the short time since Talynn was diagnosed, “It is crazy to think when Talynn was diagnosed two years ago she was the forty-third patient worldwide, and since then, we have doubled in size.”
Taylor has also gone to Capitol Hill to advocate for those in the Rare Disease Community and continuously looks for opportunities to share her story and knowledge to help others. She has received much deserved recognition as a Rare Disease Advocate by Ostrea Consulting, a leading rare disease advocacy organization, and was a nominee for a RARE Champion of Hope with Global Genes.
While it has been a long journey in a short time, Taylor continues to have a positive attitude that she spreads to other parents. She is always willing to lend a hand by connecting parents and answering questions. “If she doesn’t know the answer, she will connect you with someone who does,” said another BOS mom.
Taylor, who works full-time as a teacher and is now the mom of a second daughter, Tinlee, also credits family, friends, and her local community for being a huge support system for their family.
“Our community is truly amazing. They have done various fundraisers such as a 5k, Benefit Field Trial, to Go Dinners at Church, and many donate directly to Talynn's special needs trust fund. All of these things have allowed us to purchase items for Talynn's needs such as medical supplies, cognitive toys, and the list goes on.”
And the list of families Taylor helps continues to grow. It truly takes a village to raise a child with complex medical needs like BOS. The Foundation and BOS community at large are fortunate to have Taylor on our team.
If you are interested in volunteering for the Foundation, Taylor would love to hear from you at firstname.lastname@example.org.
The Hunsucker family visited the 5th grade class at Trinity Lutheran School in Orlando, FL on BOS Awareness Day in April. The students were able to meet Hazel who is diagnosed with Bohring-Opitz Syndrome. Hazel's mom and grandmother were able to talk about the ultra-rare syndrome and answer questions from the students.
After the visit, three of the children selected the Foundation as their charity in a fundraising project. They raised $119 through a variety of ways such as car washes, bake sales, and other creative projects. Below is the Thank You note from the teacher and class.
The Foundation would like to thank the students and teacher of Trinity Lutheran School for your generous donation and interest in Bohring-Opitz Syndrome. Your kindness and hard work is appreciated.
If you are interested in learning more about fundraising opportunities, please contact email@example.com.
The BOS Foundation would like to thank Kristy Turdo, along with the family and friends of Vinny Boy, for the successful fundraiser held in his honor. Money raised from the event will go to the BOS Foundation.
Vinny’s mom, Kristy Turdo said, “The reason I held this fundraiser is to bring awareness to a rare genetic syndrome and help children get diagnosed properly. BOS is so rare I wanted to raise money to help fund research and help the foundation become one step closer to a solution to help all children diagnosed with this genetic syndrome.”
The event was held at the American Legion in Bronx, NY on July 8th. It was sold out and everyone enjoyed the raffles, food, and prizes while bringing awareness to Bohring-Opitz Syndrome.
If you are interested in holding a fundraiser, please contact firstname.lastname@example.org for more information.
We would like to officially welcome Tony Nguyen to the Bohring-Opitz Syndrome Foundation Board of Directors. Tony will be in charge of Fundraising for the Foundation.
He was born and raised in Southern California. He has a B.S in Biological Sciences from the University of California, Irvine. Tony is a dynamic business executive with extensive management experience in rapid-high growth companies in an ever-changing environment. Little did he know that his aptitude with ever-changing environments in his work life would transfer into his personal life. His daughter Jemma was diagnosed with Bohring-Optiz Syndrome shortly after her first birthday and it has been a roller coaster first year of life.
After Jemma’s diagnosis, Tony and his wife made it their mission to spread BOS awareness amongst their family, friends, colleagues and community. They understand the importance of BOS awareness and are grateful that Tony is on the Board for the Bohring-Optiz Syndrome Foundation in order to continue the mission on a grander scale. He believes in the Foundation’s goals and objectives and is proud to be a part of it. Tony looks forward to continue growing the BOS Foundation with his fellow board members as well as with BOS advocates from all around the world.
We are so glad to have Tony and his family as part of our BOS community and look forward to working with him to grow the Foundation.
If you are interested in fundraising opportunities for the BOS Foundation, please contact email@example.com. If you would like to get more information about volunteering please contact firstname.lastname@example.org.
The Bohring-Opitz Syndrome Foundation had a successful year in 2016. Founded just two years ago in 2015 by Carrie Hunsucker and Taylor Gurganus, both moms of children with BOS, the Foundation continues to be a completely volunteer run 501c3 non-profit organization. The board of directors is composed of parents, family members, and close friends of those with BOS.
Carrie is Chair of the Board and heads the Research and Medical Advisory Board Committee, while Taylor serves as Vice-Chair and head of the Awareness Committee. Each dedicates their time and talents to improve the lives of those with BOS and their families.
In the past two years, the Foundation has established a Medical Advisory Board, awareness initiatives, and patient/parent advocacy and support for families living with BOS. All of these would not be possible without the donations and fundraising events supported by our growing BOS community.
One of the most exciting events of 2016 was the first BOS Foundation Family Meet-Up in Philadelphia in August. Jesa Galloway, Board Secretary and head of Patient Support, led the organization of the successful event. Fourteen families made the trip to enjoy a day of fun and an opportunity to exchange information and ideas about living with BOS. Two Medical Advisory Board members, Dr. Bianca Russell and Dr. Wen-Hann Tan, also attended and shared in the experience.
There was plenty of entertainment including a face-painter, Lily the Therapy Dog, and a Live Entertainment Balloon guy. The 2nd Annual BOS Family Meet-Up is scheduled for July 29th in Philadelphia and we look forward to another successful event.
Patient Support is designed to offer tools for parents and caregivers to be the best caretaker to their child and themselves. Beside the Family Meet-up, Family Support includes a new to BOS welcome packet, birthday club, and the BOS Connection Group on Facebook.
In 2016, the Patient Support committee sent out 19 welcome baskets, 4 remembrance gifts, and 28 families received g-tube pads. In addition, they sent out 18 support gifts via postcard, phone calls, and balloons, etc.
The BOS Foundation was honored to receive a Rare Patient Impact Grant in 2016 from Global Genes. Sandy Dreis, Board Advisor and past strategic partnership coordinator was instrumental in writing the grant application. This funding opportunity is awarded to make a tangible difference in patients’ and caregivers’ lives through inspiring projects and vital support services.
The Foundation will use the money awarded for the Family Meet-Up this year.
Members from the Foundation were also in attendance at summits for the Rare Disease community during the past year. Jesa Galloway and Danielle Palmer, Board Treasurer, attended the NORD Rare Summit in Arlington, VA this past October. This opportunity enabled them to network with many rare patient advocates and families, as well as pharmaceutical companies, FDA representatives, and others in the industry.
Carrie Hunsucker attended the 2016 Global Genes Rare Patient Advocacy Summit in Huntington Beach, California in September. She attended seminars in the “Patients’ Role in Drug Discovery” track and learned how to better motivate BOS research.
Attending conferences and summits are an excellent opportunity for the Foundation to network with those in the rare disease community and learn best practices for our BOS community.
The BOS Medical Advisory Board grew under the leadership of Carrie Hunsucker, adding four new members this past year. Genetic Counselor Ben Helm, Dr. Samantha Vergano, Dr. Feng-Chun Yang, and Dr. Tyler Pierson joined to support the Foundation and its patients and families.
Another exciting project for the BOS community is a Patient Registry lead by Dr. Bianca Russell and Dr. Wen-Hann Tan. The Foundation is assisting with the development of this exciting project along with other BOS advocates. Be on the lookout for more information.
Taylor Gurganus leads Awareness for the Foundation and established an Awareness Committee in 2016. The 2nd Annual BOS Awareness Day held on April 6th, 2016 was a success thanks to many in our BOS community. Taylor created a BOS ribbon of blue and gold. Several ribbons were made and distributed along with activities such as a downloadable coloring page and local events to mark the day.
The Awareness Committee also manages all social media sites for the Foundation which saw growth in 2016.
Taylor also created a BOS Family Photobook that includes stories and pictures of many with BOS. These are now included in the Welcome Packets for those new to BOS. They are also available for purchase through Mixbook. If you are interested in purchasing one, please contact Taylor for more information at email@example.com.
Taylor started the BOS Birthday Club for our BOS children and angels to receive a gift from the Foundation on their birthday beginning in January of 2017. The Awareness Committee also handled Fundraisers during the year. This is vital to the Foundation as it helps fund our initiatives. In 2016, fundraisers included ornaments and t-shirt sales.
Our larger BOS community has been instrumental in the success of the Foundation. Individual donations and local fundraisers have contributed to our overall growth. One example was a t-shirt fundraiser and Chinese auction lead by Tedra Tsesmilles, mom of a child with BOS. This raised over $1,000 for the Foundation.
Here is a look at what was raised and what the funds supported in 2016:
Ornaments: $5,494.36 Funds raised supported administrative items and the ACMG Conference
General Donations: $3,166 Funds supported the Patient Support Initiatives and Summits
T-shirt Sales $854.88 & Donations $359.62 Funds supported awareness items
T-shirt Meet-Up Sales $854.88 & Donations $359.62 Funds supported 2016 Meet-Up
*Donations and Fundraising increased by over 70% from 2015.
Danielle Palmer serves as Board Treasurer. She also attended the NORD summit and manages the finances of the Foundation.
Laura Badmaev joined the board in 2016 and has been active on the Research and Medical Advisory Board Committee. She has worked closely with physicians and other rare disease organizations to learn best practices in the field of research and non-profit organizations.
At the end of 2016, Michelle Parke Doty joined the Foundation Board of Directors to take over strategic partnerships and head communications. She hopes to build the blog and communications while developing partnerships with others in the rare disease community.
We are always open to ideas and suggestions from our wonderful BOS community. Thank you all for an amazing year and we look forward to an even better 2017! Please contact us at firstname.lastname@example.org.
Thursday, April 6th is the 3rd annual Bohring-Opitz Syndrome (BOS) Awareness Day. The day of denim and gold was created to set aside a special time to celebrate and recognize those with BOS and their families. Many times we are asked, "What can I do to help?" Here are various opportunities for everyone to participate.
Wear Denim and Gold
The colors denim and gold were chosen for BOS Awareness Day because denim represents rare disease. Gold was a nice contrast color to the denim since many with BOS have visual problems making high contrast colors easier to see. Gold is also shiny or sparkly to enhance visual attention. People can wear gold (yellow) and denim (navy) on Awareness Day to show their support.
The Foundation is excited to launch a new social media campaign this year to spread awareness by posting pictures with the hashtag #BOSAware on April 6th. We hope to get as many people as possible to participate from all over the world. We have a strong international community and can’t wait to see all the love and support for those with BOS and their families. You can help out by sharing the video from our new YouTube account and posting your picture on Facebook, Instagram, or Twitter (or all 3). We will also feature individuals and groups throughout the year on our blog and social media explaining what it means to be #BOSAware. More information can be found by clicking here to see the video.
Become a Supporter
The BOS Foundation is a 501c3 non-profit organization and is 100% run by volunteers. All donations, fundraisers, and grant money go directly to improving the lives of those affected by BOS through the Foundation’s initiatives. There are a variety of opportunities to contribute. You can make a financial donation, participate in Foundation sponsored fundraisers like the ornament and t-shirt sales, and/or by creating your own fundraiser. Some fundraising ideas in the past have included families asking for donations to be made to the Foundation in honor of a BOS child’s birthday and events like auctions and individual t-shirt sales. If you are interested in hosting a fundraising event, contact us for more information.
Plan An Awareness Day Event
Members of our BOS community have organized events in honor of Awareness Day over the past two years. Some of these have been casual gatherings at a local restaurant, a happy hour, and fundraisers. These provide an opportunity to spend time together with family and friends to celebrate their loved one with BOS.
Tell Your Story
One of the most important components of awareness and advocacy in the rare disease community is to tell your story. There are several opportunities to do this including submitting a story for our website or other online resource such as Global Genes, The Mighty, or creating your own blog. Some members of the BOS community have created Facebook pages or groups that chronicle their journey with BOS. Even sharing a paragraph or two on social media might help someone on a similar journey. Sharing your story brings a personal connection to the daily experience of living with or caring for someone with BOS.
We have a specially designed BOS Coloring page for Awareness Day that is a fun and engaging way to learn more about BOS. Teachers, parents, and therapists can use this as a learning tool to start a conversation about BOS and rare disease in general. For those with BOS, it would be a great activity for their classmates and/or friends and family members to participate in with them to show your support.
You can request awareness items from the Foundation. These include stickers, wristbands, ribbons, and awareness cards. These are nice to have to hand out to educate other about BOS. We also offer t-shirt sales throughout the year, so wearing your BOS superhero shirt might help start a conversation. Some parents have had additional items made such as postcards that have a brief description of their child and BOS. These have been useful to hand out at doctor appointments, advocacy events, or other times when a conversation about BOS comes up. These aren’t provided by the Foundation, but if you’d like more information contact us.
The Foundation is working on Rare Rounds, a program designed to teach medical students about Bohring-Opitz Syndrome. Taylor Gurganus had the opportunity to participate in Children's Hospital Grand Rounds as one of four families speaking about rare disease. This is in the initial phase of development, but if you are interested in learning more, please contact her at email@example.com.
Clinical Features Document
We have created a new BOS Clinical Features document thanks to many in our community who submitted pictures. This was a highly popular item for geneticists at the recent ACMG conference in Phoenix. You can download it from our website here if you’d like to print copies. Having materials like this and some of the other awareness items is helpful, especially to take to new doctor visits and advocacy events.
We are currently on Facebook, Instagram, Twitter, Pinterest, and now YouTube! By following us and sharing our posts, it helps us reach as many people as possible. This is also an excellent way to keep up to date with the latest information and events the Foundation offers. You can also sign up for our newsletter and email list here.
We are always looking for people to volunteer to help with the Foundation. Currently, we are looking for a Director of Fundraising. There are also opportunities to volunteer for the Research and Medical Advisory Committee and Awareness Committee. Many times we also need help with making ribbons or other items for our awareness and patient support materials. If you are interested in any of these opportunities, please contact us for more information.
Being an advocate can mean many things. As a parent advocate, you are often the voice of your child and work toward ensuring they receive the best care and services possible. This opens the door for awareness as a whole when you interact with your child's daily needs as someone with BOS. Advocating on a legislative level is something members of our BOS community have done through participating in events such as Rare Disease Day.
Awareness is a year long activity and we are always open to new ideas on how to spread our knowledge and experience with BOS. If you are interested in volunteering for the Awareness Committee or have questions about any of these activities, please contact Taylor at firstname.lastname@example.org.
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.
Michelle Parke Doty
Bohring-Opitz Syndrome Foundation, Inc.
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 email@example.com or Michelle at firstname.lastname@example.org.
The Bohring-Opitz Syndrome Foundation has created a coloring page for BOS Awareness Day! We are hoping this coloring page will be shared at schools, therapies, and any where else to help educate children and adults about BOS. The blank line is for you to insert your child's name before making copies.
We are excited to announce two new members to our Medical Advisory Board.
Dr. Feng-Chun Yang, MD, PhD is an established investigator in the field of stem cell biology and myeloid malignancies. She is currently a Professor of Biochemistry and molecular Biology at the University of Miami, where her area of research is in molecular mechanisms involved in Genetic Disease and Cancer.
Dr. Yang has been studying the cellular and molecular mechanisms underlying the pathogenesis of BOS and myeloid malignancies. The ultimate goal of her research is to identify novel therapeutic targets and to develop rational therapies to treat myeloid malignancies and BOS.
She has also authored over 90 peer-reviewed papers in the field of research and is a member of several professional societies. Dr. Yang also serves on the review boards for numerous professional journals and funding agencies.
Dr. Tyler M. Pierson, MD is a pediatric neurologist at Cedars-Sinai in Los Angeles, California. He completed residencies at Texas Children’s Hospital and the Hospital of the University of Pennsylvania. His fellowship was at The Children’s Hospital of Philadelphia (CHOP) and his post doctorate at the National Institutes of Health.
Dr. Pierson currently works at Cedars-Sinai in Los Angeles where he is affiliated with several departments including a focus on Charcot-Marie-Tooth in the Hereditary Neuropathy Center, the Department of Biomedical Sciences, Regenerative Medicine Institute, and other pediatric and neurological programs.
Dr. Pierson was awarded the National Human Genome Research Institute Merit Award in 2011 and the Team Science Award for the Society for Clinical and Translational Science, also in 2011. He also holds other honors and memberships to professional associations, along with multiple publications. Dr. Pierson has an interest in rare genetic conditions, leading him to accept a position on the BOS Medical Advisory Board.
We are pleased to welcome both Dr. Yang and Dr. Pierson to our BOS Community and Medical Advisory Board. We are thrilled to have them both serve on the Board, bringing their wealth of knowledge and experience. To learn more about the MAB and other members, please click here.
The Bohring-Opitz Syndrome Foundation is joining others in the rare disease community around the world in celebrating Rare Disease Day, February 28, 2017. As a member of the National Organization of Rare Diseases (NORD), we hope to help raise awareness and educate others on rare diseases, including Bohring-Opitz Syndrome.
The campaign was started in 2008 by EURORDIS, a sister organization of NORD that continues to sponsor the event internationally. NORD became the Official US Sponsor for Rare Disease Day in 2009 and works with the international Council of National Alliances each year.
This year, the theme is research with the tagline, “with research, possibilities are limitless.” Over the last few decades, there has been an increase in funds dedicated to rare disease research in general. Although the state of rare disease research in the United States has improved, there is still a lot of work to be done.
Bohring-Opitz Syndrome (BOS) is one of the approximately 7,000 known rare diseases. Currently, the medical literature cites less than 60 known cases of BOS. However, since that article was printed, parent advocates have cited closer to 84 diagnosed cases of BOS.
One of the major focuses of the BOS Foundation this year is to support the development of a patient registry. Patient Registries are listed as one of the strategies to aid in driving research goals in rare disease populations.
A registry is a collection of data on patients with a specific condition. The purpose of a registry is to locate and list patients with the condition in order to facilitate patient/family networking and for clinical trial recruitment. They also serve as a research tool to improve clinical care and establish evidence-based medical practices. They also aid in evaluating patient-reported outcomes and collecting natural history of the disease with the possibility of drug development or other treatment approaches.
Medical Advisory Board members, Dr. Bianca Russell and Dr. Wen-Hann Tan are taking the lead to organize a registry for Bohring-Opitz Syndrome. We are excited to help see this project to fruition, as it will help push research to the next level.
Ultra-rare genetic syndromes, like BOS, are often left behind when it comes to research due to the small population. That is why it is so important to share our stories and bring a face to those who will benefit from research.
The Foundation is thankful for the support of our community through spreading awareness, educating the public and medical community about BOS, and your financial contributions.
If you have a story you’d like to share, please contact email@example.com. Sharing these stories on social media, blogs and other medias like The Mighty are great ways to get our message out.
We are excited to announce we have partnered with RARE Science to gift BOS children and angels with one-of-a-kind RARE Bears in time for BOS Awareness Day, April 6th.
Earlier this year, we announced the creation of the BOS birthday club which includes a gift for your child's RARE Bear. Some of the children pictured above have already received their RARE Bear and birthday club cape with the BOS Awareness ribbon.
Our partnership with Rare Science launched this special gifting of RARE Bears to coincide with Awareness Day to help educate others about Bohring-Opitz Syndrome. RARE Science initiated the RARE Bear program in August of 2015. It has since grown to include over 700 RARE Bear Makers from around the world (they span 9 countries and 45 states in the US) that make up the RARE Bear Army.
Each bear is carefully selected and matched with a child during their monthly Matching Day. For March, they have selected our BOS community as one of their organizations to gift bears. Instructions on how to participate are listed below. If you have any questions, please contact us at firstname.lastname@example.org.
How to participate in the RARE Bear program:
- Click on the link here and print the form to complete.
- Email completed form to email@example.com by March 5.
- Matching Day for Bears is March 19, so we anticipate you will receive your bear a week or so after. Please view this video to learn more about this wonderful program.
- Send pictures of you child with their bear to Rare Science at firstname.lastname@example.org by April 4th. If your child has received a cape in their BOS birthday club gift, we encourage you to put that on the bear.
- Rare Science will help spread awareness of BOS with the help of your pictures on Awareness Day, April 6.
Rare Science will also put pictures on their website according to the details in the letter with the form. They do not put any identifying information with pictures, so your child's privacy is respected. Sharing the picture allows the crafter of the special, one-of-a-kind bear to see it found a special home. For BOS Awareness Day, they will create a collage with the pictures you submit to post on social media along with information on Bohring-Opitz Syndrome in hopes to spread awareness.
Also, don't forget to sign up your child for the BOS Birthday Club if you haven't done so already. We have included a very special gift for your Rare Bear. Click on the link here to sign up today!
To learn more about the RARE Bear Army and RARE Science, please click here.
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.
One Sunday morning, Chad and I came across the Sunday Morning Show. They were showing a portrait of a child with a Rare Disease. It was truly amazing to hear the families speak about their child and the artist’s deep passion for what he was doing. They explained the artists do this for free through a project called Beyond the Diagnosis. The project is funded through Rare Disease United.
I immediately got on my phone to google more information. I found the links and told Chad I was going to register Talynn. I completed the application and sent in five different photos. A few hours later, I received a phone call from Patricia Weltin from Rare Disease United informing me Talynn had been picked to be the face of Bohring-Opitz Syndrome.
Patricia explained they rely on public donations and their professional artists donate their time to create these beautiful images. The portraits travel all over the world to raise awareness for rare disease. The portraits I had seen online were AMAZING and all of the artists are extremely talented. I was amazed at all the hard work she and many others had put in for the rare disease community.
This week, Patricia sent me a message saying Talynn's painting was complete! I was so excited and couldn't wait to see it. When she posted the picture, I was in awe and have been ever since. It is beautiful. I cannot wait to get our high-resolution image and see the original portrait in person.
Talynn's portrait was painted by Marie Wolfington-Jones. We are beyond blessed that Talynn was picked and in amazement at how great of a job the artist did.
~ Taylor Gurganus, BOS Foundation, Inc. Vice Chair & Co-Founder
The Beyond the Diagnosis Art Exhibit is traveling to medical schools, research institutes, and hospitals around the globe encouraging the medical community to look "beyond the diagnosis" to the patient. The BOS Foundation is very thankful for Rare Disease United supporting and bringing awareness to rare diseases. To learn more about Rare Disease United, check out their website here.