Boston — The Barth Syndrome Foundation (BSF), the only patient advocacy organization dedicated to Barth syndrome and saving lives around the world through education, advances in treatment and finding a cure, recognizes the first annual Barth Syndrome Awareness Day. Barth syndrome is an ultra-rare, life-threatening, genetic disease primarily affecting males. There are currently no FDA-approved treatments for Barth syndrome.
Congressman Paul Tonko (D-NY) introduced H.Res.276 with Congressmen Gus Bilirakis (R-FL) and Ralph Norman (R-SC) as co-sponsors to recognize April 5 as Barth Syndrome Awareness Day and highlight the need for increased awareness, improved diagnosis, new therapies for this disease and regulatory pathways for ultra-rare drug development.
“We are tremendously grateful to Representative Tonko, Representative Norman and Representative Bilirakis for introducing bipartisan legislation to recognize the first annual Barth Syndrome Awareness Day,” said Emily Milligan, Executive Director of BSF. “We celebrate being heard and recognized, since people living with Barth syndrome and other ultra-rare diseases face significant under-recognized health inequities that can only be addressed through drug development pathways and access policies that have been designed with ultra-rare diseases in mind. Every person with Barth syndrome or any other ultra-rare disease deserves a chance for a better, fuller, longer life.”
Globally, there are only about 300 patients with Barth syndrome. Caused by a mutation in the tafazzin gene, also called G4.5, that results in an inborn error of phospholipid metabolism, Barth syndrome affects many systems of the body and is characterized by cardiac abnormalities often leading to heart failure and reduced life expectancy, recurrent infections, muscle weakness and delayed growth. Barth syndrome can be fatal in childhood due to heart failure or uncontrollable infection, with approximately 50 percent of deaths due to Barth syndrome occurring within the first year of life and 85 percent before the fifth year of life. Those who survive to adulthood have a severely reduced life expectancy and typically experience compromised physical health with medical conditions that can become life-threatening with little or no warning.
If you have Barth syndrome or know someone who does, we encourage you to participate in Barth Syndrome Awareness Day in any of the following ways:
- Contact your local representative
- Join our “Move 4.5” challenge to build a healthy habit and raise funds, or donate to make research and development and other programs possible
- Participate in Barth syndrome research through joining the Research GUID program, enrolling in the Barth syndrome registry or finding out if you qualify for a Mayo Clinic study to improve diagnosis
- Share on social media
ABOUT BARTH SYNDROME FOUNDATION (BSF)
Barth Syndrome Foundation and our international affiliates comprise the only global network of families, healthcare providers, and researchers solely driven by the mission to save lives through education, advances in treatment and finding a cure for Barth syndrome. Considered a role model in rare disease advocacy, BSF has funded $6.2M USD and catalyzed over $33M USD in funding from other sources to advance global scientific discoveries to end the suffering and loss of life from Barth syndrome. Additionally, BSF provides a lifeline to families and individuals living with Barth syndrome around the world, offering individualized support, educational conferences, a patient registry and collaborations with specialist healthcare providers to define standards of care, treatment and rapid diagnosis.