By Sarah F.
I never imagined I would become a rare disease advocate or volunteer, but my life’s journey led me to this role. Two key moments in my life that led me down this path include:
- The birth of our son who, after a 12-year odyssey, was diagnosed with Recessive Titinopathy, a rare muscle disease.
- Meeting a world-renowned muscle disease researcher, Dr. Alan Beggs, PhD., Director of the Manton Center for Orphan Disease Research at Boston Childrens Hospital and Sir Edwin & Lady Manton Professor of Pediatrics at Harvard Medical School, both part of the Harvard Medical School Affiliated Hospitals – NORD Center of Excellence for Rare Disorders.
The first of these events is the driving force behind my passion for this work, and the second has opened my eyes to the possibility of a treatment and how I might act as a catalyst for change for our community.
I founded Team Titin to serve those living with, caring for, or researching titin (TTN) related muscle and heart disorders. To achieve this mission, we focus on four key pillars: Connection, Advocacy, Care, and Research. We recently became a Member of NORD, and I am thankful for NORD’s support with tools to help develop our nonprofit.
I also enjoyed working as a volunteer with NORD’s Medical Editor, Marsha Lanes, to create the NORD Rare Disease Report on titinopathy. Having disease information on a website like NORD’s helps us to spread the word and connect with more families around the world that might be feeling lost, confused, or alone. It is important for doctors and patients to have an online resource with reliable information on the diagnosis, symptoms, and causes of titinopathy.
As we celebrate National Volunteer Month this April, I hope you can follow your passion to make a difference and be inspired by the possibility of a brighter future for your community.
Want to learn more about volunteering with NORD? Attend our upcoming webinar on Thursday, April 25, 2024 at 7:00pm ET! Register at bit.ly/4aFwQhq.
Ready to make a difference? Sign up to volunteer with NORD today at rarediseases.org/volunteer-application.
