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

Pulmonary Hypertension

“At the specialised centre, they told me that without treatment, I had 2 years to live and with a treatment, it was still a very poor prognosis,”

Retinoblastoma - With ocular prosthesis, but without velvet gloves

How children live with eye cancer

Rett Syndrome

Instead of focusing on the negative aspects of their daughters’ Rett Syndrome, two women draw strength from the positive.

Sanfilippo Syndrome: Alliance Sanfilippo

'My husband and I had never heard of Sanfilippo syndrome before the doctors told us in July 2005 that our dear and beautiful Ornella was suffering from the disease.'

Philippa’s Story: Living with Superior Semicircular Canal Dehiscence Syndrome

Philippa has superior semicircular canal dehiscence syndrome (SCDS), a rare balance disorder

Living with Scleroderma & Raynaud’s Disease

During the autumn of 1997, aged 24, my fingers became very stiff and swollen with shiny tight skin

Sickle Cell Disease: “a family affair”

Jenny Hippocrate’s son, Taylor, has sickle cell disease. Together they are working to make life better for everyone with this condition.

Spinal 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.