2016 has been an exciting year for the Bohring-Opitz Syndrome Foundation, Inc. We appreciate the ongoing support of our growing community and look forward to an even better 2017 as we continue to spread awareness, support patients and families living with BOS, support research, and increase the sense of community surrounding BOS in general.
BOS Foundation, Inc. Awarded Grant
We are proud to announce that the Global Genes 2017 RARE Patient Impact Grant Program has awarded the Bohring-Opitz Syndrome Foundation, Inc. $5,000 to fund the 2017 BOS Meet Up. We are honored and grateful to receive this highly competitive grant. Thank you Global Genes!
We still have BOS awareness cards, stickers, and ribbons available for free, click here to request some today.
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Read Campbell's story and see why it's important to support the Foundation.
Campbell was recently diagnosed with Bohring-Opitz Syndrome after a ten-year search for a diagnosis. Co-Founder and Chair of the Awareness Committee, Taylor Gurganus, reached out to Campbell's mom on social media after seeing her picture and recognizing many characteristics of BOS in Campbell's history. Her mom, Michelle, contacted Campbell’s geneticist to explore the possibility she had BOS. Whole Exome Sequencing confirmed that she had a mutation in the ASXL1 gene, which along with her clinical symptoms, lead to a diagnosis of BOS. Michelle said, "Finally receiving a diagnosis has not only answered the "why" to Campbell's symptoms, but it has given us a community of support and knowledge through the Foundation and support group." She also noted the information she has received from parents has already made a difference in Campbell's care. “Taylor connected me with a few parents shortly after Campbell’s diagnosis. One of the moms informed me that her child didn’t do well with the ketogenic diet due to issues with her gallbladder.” Campbell just recently started the diet for drug-resistant epilepsy and because of this information her doctor ordered additional testing and monitoring. Michelle pointed out, “Without a BOS diagnosis and the information from this mom, this wouldn’t have happened.” Michelle also stressed this is an example of why it’s so important to continue spreading awareness and sharing information between parents and medical professionals. Her hope is that through the Foundation’s goal to have a registry and support research there will be better interventions to improve the lives of Campbell and others living with BOS.
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The BOS Patient Support Committee 2016 Review
The BOS Foundation’s Patient Support Committee is very excited to share all of the wonderful things it has accomplished in 2016. From welcome baskets to encouragement gifts, the Meet-up event, and the announcement of the BOS Birthday Club, we have worked hard all year to spread love and support throughout our BOS community, continuing in our mission as a Foundation.
2016 Meet-Up Event
The first annual BOS Family Meet-Up Event was held on August 13, 2016 in Philadelphia, PA. This event was intended to celebrate our BOS children and families and it was quite a celebration! This was the first time for many BOS families to meet face to face and it was a huge success. Fourteen families were able to exchange information and ideas, as well as ask questions not only to each other, but also to two of the BOS Foundation’s Medical Advisory Board members, Dr. Bianca Russell and Dr. Wen-Han Tan. There was plenty of entertainment including a face-painter, Lily the Therapy Dog, and a Live Entertainment Balloon guy. The BOS Foundation is well on its way in planning next year’s Meet-Up Event, which will be held in Philadelphia, PA in July 2017. Stay tuned for further details!
Welcome Packages/Support Gifts
One of the goals of the BOS Foundation is to help patients and their families adjust to the new diagnosis of BOS. To help with the transition from undiagnosed to the BOS diagnosis, the Foundation has begun sending welcome packages to these families. Our packages include an informational packet about BOS and the Foundation, a resource page, a BOS child’s story, BOS pens and stickers, and a small toy for the child. During 2016, sixteen families received these packages with hopes of sending support, educating these families, and building an increased sense of the BOS community.
The BOS Foundation’s Patient Support Committee has also partnered with several g-tube pad companies during the 2016 year and was able to support 17 BOS children by sending free g-tube pads to them. Please be sure to email the Patient Support Chair, Jesa Galloway, at jesa@bos-foundation.org, if your child would like to receive a few free pads and has not done so already in 2016.
New in 2017-The BOS Birthday Club!
The BOS Foundation recently announced the BOS Birthday Club, which will begin in January 2017. As our way of celebrating, the Foundation will send gifts every month to each BOS child or angel during his or her birthday month. Please be sure to register your child for the Birthday Club on the BOS website at www.bos-foundation.org. We hope this club helps bring smiles to all of our BOS children and families!
If the BOS Patient Support Committee can help support you in any way, please contact Jesa Galloway at jesa@bos-foundation.org
Foundation Board Members Attend Summits in 2016
Global Genes Rare Patient Advocacy Summit
In September, I was able to attend the 2016 Global Genes Rare Patient Advocacy Summit in Huntington Beach, California. I was able to attend through a generous travel scholarship program offered by Global Genes. It was an amazing experience, and I left inspired and motivated with a to-do list a mile long!
I was able to network with other rare parent advocates and learn from these peers. I spent two full days attending seminars in the "Patients' Role in Drug Discovery" track and learned how to better motivate BOS research. I can't wait to implement everything I learned as I lead the Research and Medical Advisory Board committee for the Foundation.
If you'd like to learn more about the Global Genes Rare Summit, click here.
If you'd like to learn more about the Foundation's Research and MAB committee, please email me at carrie@bos-foundation.org.
Thank you,
Carrie Hunsucker
Chair, BOS Foundation
NORD (National Organization for Rare Disorders) Conference
In October, myself and Danielle Palmer (BOS Treasurer and Chair), attended the NORD Conference in Arlington, VA. We received a generous travel scholarship from NORD, which allowed us to attend this awesome conference. During this two-day learning experience, we were able to network with many rare patient advocates and families, as well as pharmaceutical companies, FDA representatives, and people in industry. The BOS foundation was also able to partner with Rare Disease Report, as a result of this conference. Danielle and I also learned a lot from our participation in many break-out sessions focusing on pediatric rare diseases, funding and research, awareness, and marketing...to name a few. Over 600 people attended this conference and we were happy to be a part of it. We look forward to putting into practice all that we have learned.
If you would like to know more about the National Organization of Rare Diseases, please visit their website.
Thank You,
Jesa Galloway, Patient Support Chair
BOS Foundation, Inc.
Executive Committee News
BOS Foundation Becomes NORD’s Newest Member
In 2016, the Bohring-Opitz Syndrome Foundation was accepted as a member of the National Organization of Rare Disorders (NORD). This shows the progress we have made in developing our Foundation into one that meets the criteria for becoming a member of NORD. We have successfully shown that we have a patient-centered focus, assisting families affected by Bohring-Opitz Syndrome diagnoses. Last year, we quickly achieved 501c3 tax-exempt status, thanks to the generous donors supporting the Foundation. We have also established a medical advisory board to help families understand the disorder and forge a link between families, the foundation, and the medical community.
Membership in NORD will give us many opportunities and advantages that will add value to the Bohring-Opitz Foundation. We will have expanded peer networking and guidance from a larger organization. The Foundation will also have access to breaking news relative to rare disorders. Additional promotion of the Bohring-Opitz Syndrome Foundation and Bohring-Opitz Syndrome will advance the awareness of the disorder. Our board and volunteers will have more opportunities for education and growing their knowledge in order to best help Bohring-Opitz Syndrome Foundation members. More information about NORD can be found here.
Research and Medical Advisory Board Committee Accomplishments in 2016
In 2016, the Medical Advisory Board (MAB) added the following members: Ben Helms (Certified Genetic Counselor), Dr. Sam Vergano, Dr. Omar Abdel-Wahab, and Dr. Feng-Chun Yang. We are excited for the knowledge and expertise these individuals bring to the Foundation.
The MAB conducts quarterly conference calls. These are important because our medical/scientific advisory board brings together the top researchers in areas relevant to BOS (clinicians and researchers who study genetics and the effects of the genetic mutations). In these conference calls, members of our MAB have the opportunity to discuss the intersection of their fields in a way that is working to improve the quality of life for those affected by BOS.
In addition, the MAB worked on getting BOS added to relevant rare disease databases (GARD, Genetics Home Reference, NIH, Unique), completed research challenges polls, and started to investigate a research fund.
The Foundation was fortunate to have Co-Founder/Chair and MAB Director, Carrie Hunsucker, along with daughter Hazel and husband Greg, visit two MAB members in November. They were able to meet Dr. Juan Young and Dr. Feng-Chun Yang at the University of Miami. It was a wonderful experience for both the Hunsucker family and the researchers as they were able to meet Hazel, who has BOS, and then show the exciting research they are conducting on the gene that is responsible for BOS. To read more about this exciting experience, click here.
Financial Report for 2016
The foundation received $11,045 in support/donations for the year. Total support increased 72% as compared to 2015, which was $2,929. This is an excellent increase for such a young foundation and your support is greatly appreciated. One of the main financial objectives for the 2017 fiscal year is to increase donations by targeting fundraising efforts by fiscal quarter.
Your support through fundraising efforts and donations help support the foundation and it’s goals to help create “The Best Life for All Families Living with BOS.” You can still make a donation by the end of the year to get tax deductions for 2016. Click here to make a donation.
Fundraising efforts in 2016
- Tshirt Fundraiser: $1,210
- Meet-Up Fundraiser: $4,070
- Ornament Fundraiser: $4, 567
Stay tuned for t-shirt sales in January!
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