jueves, 15 de noviembre de 2018

Living with a Rare Disease: stories from patients and families

Living with a Rare Disease: stories from patients and families

Eurordis, Rare Diseases Europe



The Voice of Rare Disease
Patients in Europe



 

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,”
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Rett Syndrome

Instead of focusing on the negative aspects of their daughters’ Rett Syndrome, two women draw strength from the positive.
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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.'
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Philippa’s Story: Living with Superior Semicircular Canal Dehiscence Syndrome

Philippa has superior semicircular canal dehiscence syndrome (SCDS), a rare balance disorder
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Living with Scleroderma & Raynaud’s Disease

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

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

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