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Living with a Rare Disease

Most rare diseases have no cure, so the art of living with a rare disease is an ongoing learning experience for patients and families. Read and share stories of hope, sorrow, achievement and ordinary life of these extraordinary people.

Living with CDG: two stories, one shared hope

Liliana and MP were born 27 years apart. Their stories show us the progress and development achieved in nearly 30 years.

Fragile-X syndrome: an insight from two generations

Paul and brothers Sebastien and Antoine have Fragile-X syndrome. Two mothers share their experience.

ARSBH: creating equality across borders

Developing parity of treatment in Europe for Spina Bifida and Hydrocephalus

Hereditary Spastic Paraplegia: Just one step

Advancing research: Just one small step can make a big difference

Niemann-Pick

Living each day as it comes

Chromosome 18 disorders: a European parent group to lean on

Acting at European level to gather families, networks, provide mutual support and stimulate research.

Global Campaign to find all children with Progeria

Begun in late October 2009, the “Find the other 150” campaign is a global effort to find all children...

Living with Angelman Syndrome

Jane Villemoes tells us about daily life, the joys, the battles won and those lost while bringing up Cecilie, her 12 year old daughter diagnosed with Angelman syndrome.

Alkaptonuria: infant indication, adult onset

Diagnosis of Alkaptonuria (AKU) can be possible in infancy but is often delayed until adulthood long after symptoms manifest

Strümpell-Lorrain disease

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

Marfan syndrome: The silent disease

Véronique Vrinds was not just taller than her friends at school; she was also a bit more awkward and much more prone to sprains. While growing up, she developed back...

Rare Diseases in Australia: a piecemeal approach

Isolation is one of the many issues faced by rare disease patients all over the world. In Australia, where 20 million people live in a territory roughly the size of Europe,...

New Zealand Organisation for Rare Disorders

Far away but with similar issues

Osteogenesis imperfecta patients in Romania

Fighting for free drug access

VML - Overcoming Lysosomal Diseases

Helping patients and supporting research

The Dutch Cutis Marmorata Telangiectatica Congenita (CMTC) Association

Reaching out beyond the frontiers

Two associations, one battle

Chromosomes hold the genetic keys to all of the body's functions; disorders occur when there are errors on any of the body's 23 pairs of chromosomes.

Retinitis Pigmentosa: Michael Griffith - a vision ahead

Although Michael Griffith was developing Retinitis Pigmentosa (RP) in 1983, it was not his own condition that prompted him to establish Fighting Blindness (FB).

Marshall-Smith Syndrome: Reaching for the STARS

Liesbeth Laan, a school nurse based in The Hague, Netherlands, had a smooth pregnancy and delivered Joas at home in July 2006. But for the first six months of his life, the...

From Belgium to Sweden: Fighting Ehlers-Danlos syndrome

Florence Simonis summarises accurately, if a bit sadly, the life of a rare disease patient. “Every day is a kind of fight against the pain, the fatigue, the invisible...