Copy

Bohring-Opitz Syndrome Highlighted at ACMG

In March, the Bohring-Opitz Syndrome Foundation made its debut at the American College of Medical Genetics and Genomes (ACMG) Annual Clinical Genetics Meeting in Phoenix, Arizona.  The conference is considered the premiere educational and networking event in clinical genetics and genomics. 
 
Carrie Hunsucker, Co-Founder and Chair, attended the conference along with Sandy Dreis, Board Advisor.  They joined Dr. Bianca Russell, member of the Medical Advisory Board, to represent Bohring-Opitz Syndrome.
 
The Foundation sponsored a booth in the exhibition hall offering information on BOS, including the new Clinical Features document created under the direction of Dr. Russell and Dr. Wen-Hann Tan. Carrie and Sandy met with several geneticists, and other professionals in the field, answering questions and engaging in discussions about BOS during the three-day conference.

Bohring-Opitz Syndrome was highly visible and garnered a lot of interest thanks to Dr. Russell's talks and poster presentation.

Read more
2016 Year in Review
The BOS Foundation had a very successful year in 2016.  Some of the highlights included the Family Meet-Up in August, the 2nd
Annual BOS Awareness Day, and BOS advocates attending summits in the Rare Disease Community.  We look forward to an even better 2017!
Read more
3rd Annual BOS Awareness Day
I am. We are. #BOSAware

Thank you to everyone for making the 3rd Annual BOS Awareness Day a huge success.This day is to celebrate, remember, honor, and cherish all of the patients who have been diagnosed with Bohring-Opitz Syndrome. Read more and view the Awareness Day video by visiting Talynn's Journey here.  
First Quarter News
New Clinical Features Document

As part of our preparation for ACMG, we developed a new clinical feature document for BOS under the direction of Dr. Bianca Russell and Dr. Wen-Hann Tan. This is a valuable tool for geneticists to use in recognizing the characteristics of BOS. Thank you to all the families contributing pictures to this important document. It is available for download from the website here.
 
BOS Advocates on Rare Disease Day

Rare Disease Day was February 28th, offering many events in the United States and across the world. Members of the BOS community took advantage of many of these including Rare Disease Week on Capitol Hill and state advocacy events. Among those were BOS parents, Taylor Gurganus from North Carolina and Jill Morris from Virginia. Read more
 
T-shirt Fundraiser 

Thank you to everyone that bought a t-shirt during our first quarter fundraiser. We raised $3,300 from sales and donations! A special thank you to Taylor Gurganus for her hard work and dedication in another successful fundraiser.  This year's shirt featured a BOS Superhero theme and had many names of those with BOS and our angels.  
 
The Medical Advisory Board is pleased to announce they have added two members.  Dr. Feng-Chun Yang, MD, PhD is a Professor of Biochemistry and Molecular Biology at the University of Miami.  Dr. Tyler M. Pierson, MD is a pediatric Neurologist at Cedars-Sinai Medial Center in Los Angeles.  Read more here.
 
Beyond the Diagnosis Art Exhibit

Beyond the Diagnosis is a traveling art exhibit shown in medical schools, research institutes, and hospitals around the globe encouraging the medical community to look "beyond the diagnosis" to the patient.Talynn, daughter of Taylor and Chad Gurganus, is the face of BOS. Read more here.
 

Child with BOS in Video Series

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. Read more here.

We Are on YouTube!

The BOS Foundation now has a channel on YouTube. If you have a video you would like added, please contact us at info@bos-foundation.org.  We would love to have more patient/families stories.  If you have other ideas, including educational videos, please let us know!
Partnerships
Rare Science

We partnered with Rare Science to gift Rare Bears to those with BOS in preparation for Awareness Day. These one-of-a-kind bears are gifted to those with Rare Disease all over the world. If you did not get a bear, click here and fill out the application. And don't forget to sign up for the BOS Birthday Club here.This year there will be a special cape for your child's Rare Bear. Thank you to Rare Science for this special gift and sharing about BOS on social media for Awareness Day.
The Mighty

We have partnered with The Mighty, an online resource to help people facing disease and disability. Taylor Gurganus' blog post, Organization Tools for Parents of Kids with Bohring-Opitz Syndrome was recently published on The Mighty.  It was the first article under our new partnership. The BOS Foundation has a page on the site with topics related to Borhing-Opitz Syndrome and Rare Disease.  If you are interested in submitting a blog post or have an idea for one, please contact michelle@bos-foundation.org.
Coming Soon!
2nd Annual BOS Family Meet-Up

We are thrilled to announce the Family Meet-Up will be on July 29th in Philadelphia. You should have received an email with details. We will be sending another detailed one soon so be on the look out for it. 

Please RSVP to jesa@bos-foundation.org by May 31st.

If you have any questions, please contact Jesa as well. We hope to see as many of you as possible!
Volunteer Opportunities
Position Opening - Director of Fundraising

The BOS Foundation is looking for a Director of Fundraising for our board.  This position would involve organizing fundraising events for the Foundation and overseeing the Fundraising Committee and volunteers. Currently, the board meets on the first Tuesday of the month at 5:30pm EST.  If you are interested and would like more information, click here to view a detailed job description. Please email carrie@bos-foundation.org or taylor@bos-foundation.org with any questions. 

We also have opportunities to volunteer for the Awareness, Patient/Parent Support, Research & Medical Advisory, and Strategic Partnership Committees. We welcome any inquiries and ideas to better serve our population. Please contact us at info@bos-foundation.org.
Please consider designating the Bohring-Opitz Foundation as your Amazon Smile Charity.  A portion of every purchase goes to the Foundation. It's an easy way to help with no cost to you.  Learn more here.
Copyright © 2017 Bohring-Opitz Syndrome Foundation, Inc., All rights reserved.


Want to change how you receive these emails?
You can update your preferences or unsubscribe from this list

Email Marketing Powered by Mailchimp