The reality of living
with a rare disease
Bernadette Scarduzio has Charcot-Marie-Tooth Disease (CMT) — one of thousands of rare diseases with no known cure. She’s been through more than two-dozen operations. Decades of physical therapy. Enormous physical and emotional challenges. Yet she remains a tireless advocate for herself and others.
The greatest weight is borne by children
Bernadette was diagnosed when she was eight. In fact, more than
half of all people with rare diseases are children. A third of them
will not live to see their fifth birthday. Because their disease
has no cure. That’s what drives our efforts.
1 out of 2
Patients are in children’s hospitals because of rare diseases
have no cure
People have rare diseases —
more than HIV and
Meet Biopontis Alliance
Building bridges of
healing and hope
Find out how we’re advancing promising science into potential treatments for rare diseases that impact more than 350 million children and adults around the world.
With your support, we can close the gap between basic research and effective treatment — which will lead to a brighter future for Bernadette and the millions of families who live with rare diseases.