Living with a Rare Disease

Most rare diseases have no cure, so living with a rare disease is an ongoing learning experience for patients and families. Here is a collection of stories and videos from people who have generously shared their experiences of living with a rare disease. Would you like to share you own experience? Contact us for more information

Muscular Atrophy

Yuliya, a five year old gorgeous blue-eyed girl, had a normal childhood until her first birthday.

Stiff Man Syndrome: Still dancing inside

In 1983 Liz Blows was diagnosed with diabetes. She adjusted to a regime of dietary control and regular injections and got on with her life.

Strümpell-Lorrain disease

Philippe Grammont, founder and Vice-President of the French Association for Strümpell-Lorrain tells his story

Tuberous Sclerosis - Marianna and Katerina Lambrou

Marianna Lambrou stepped up to the podium at the European Conference on Rare Diseases with a smile to give her presentation as part of the second topic to be addressed by the conference:

Xeroderma Pigmentosum - Seris Family

The doctors' advice was to “let them live a normal life”. They could offer nothing more in view of the severe and irreversible effects of the disease.