Published: Lifelines for Health Summer 2020
In 2012, CHES began serving the needs of those affected by FVIId at a small venue in upstate New York with 18 families in attendance; in 2019, we welcomed 55 families! It was the very first national conference ever held in the US that catered specifically to their needs. As we reflect on the impact this program has had for those with FVII deficiency, the milestones are astounding. This community has gone from not being sure what a HTC was, or how to self-infuse, or knowing another person with their deficiency, to a robust, empowered family community. The Super Sevens, as they call themselves advocated from the very first Factor 7 Retreat for more research to understand their disorder. In 2017, that call was answered when Dr. Diane Nugent and her team from Children’s Hospital of Orange County, CA attended the retreat to conduct blood samples from every biologically related member of a family for the purpose of identifying molecular variants. The gathering of this information has provided further insights in regard to discrepancies between circulating FVII activity and bleeding symptoms, which often do not correlate.
What's with the name? One Drop refers to the extremely low prevalence of FVIId individuals (said to be 1:500,000), those with GT (1:1,000,000), and others with rare factor deficiencies. Equally important, but small in numbers, hence the name - a drop in the bucket, er pool, er ocean. In parallel, the droplet is a symbol of blood - an obvious choice for these groups.
In 2016, CHES was thrilled to begin a collaboration with Helen Smith, founder of The Glanzmann’s Research Foundation for the first Glanzmann’s Thrombasthenia Symposia. A tireless advocate, Helen created a global community of families affected by this one in a million-bleeding disorder. It was an honor to bring 35 families from across the country together to meet others managing the same challenges that Glanzmann’s brings. Like our Factor 7 families, many had never met another person with GT. We were thrilled to see our families again in 2019 for a second GT Symposia. Dr. Nugent and her team were able to join this group and obtain blood samples for additional research for this ultra- rare disorder.
So, what is One Drop? In 2020, nSpiration Foundation will collaborate with CHES to combine the Factor 7 Retreat and GT Symposia into one rare bleeding disorder consortium named One Drop. There will
be separate in-depth medical sessions for each disorder facilitated by physician experts in these fields. Self-Infusion classes, and sessions on the psychosocial effects of chronic conditions, focus on women’s OB/Gyn needs, and connecting through shared experiences. Teens participate in their own dedicated track that provides time with medical specialists, team building and rap sessions. One Drop will offer two study opportunities this year to include Dr. Nugent’s current molecular sequencing project for all biologically connected family members, as well as The Assessment of Joint Arthropathy Using Ultrasound Technique in Women with Coagulation Disorders (WUP- Women w/ coag disorders Ultrasound Project) for women ages 18-50 with a factor deficiency.
One Drop is scheduled for Sept. 11-13, 2020 in Detroit, Michigan. Due to COVID-19 however, we are closely monitoring and will abide by federal, state, and city guidelines meant
to keep everyone safe. Possible contingency plans include postponing to a later 2020 or 2021 date, or a virtual
meeting.
Tragically, Helen Smith unexpectedly passed October 20, 2019. The GT community mourns as she was highly regarded and loved by all. CHES sends its deepest condolences to her family. Helen's efforts as founder of The Glanzmann's Research Foundation continue on in her memory. Donations can still be made at: https:// www.gofundme.com/f/glanzmann039s-research
For more info on One Drop, visit nSpiration.foundation/one-drop