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
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 pain
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, isol
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 baby
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 disa
Osteogenesis Imperfecta: a mother-and-daughter experience of brittle bone disease
Osteogenesis imperfecta (OI) is a group of rare genetic disorders that mainly affect the bones.
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.
Narcolepsy: a correct diagnosis for a normal life
Linda R. tells us about her daughter’s life with Narcolepsy, a rare disorder that causes excessive sleepiness and cataplexy
NBIA -The isolation of very rare disease patients
At the age of ten, Dietmar was causing himself so many injuries by falling down that we asked the doctor for a brain scan.
