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.
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: 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
It was Alberto Vargas' birthday when he got conclusive news that his youngest daughter, Valeria, had Niemann-Pick disease. Middle daughter Fernanda had already died of...
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...
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
Simon Laxon was, unusually, diagnosed with Alkaptonuria (AKU) when he was six weeks old. The doctors didn't know much about Alkaptonuria and told my parents that it was a harmless...
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,...
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: 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...
Osteogenesis Imperfecta
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, a normal life
Linda R. tells us about her daughter’s life with Narcolepsy, a rare disorder that causes excessive sleepiness and cataplexy
NBIA: 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.
Fibrodysplasia Ossificans Progressiva (FOP)
Manuel was only 4 years old when he was diagnosed with Fibrodysplasia Ossificans Progressiva, an extremely rare genetic condition that affects 1 in 2 million people.
Swedish thalidomide victim
Björn Håkansson was born in Sweden, in 1960, with dysmelia, a malformation in which he has underdeveloped arms with 3 fingers on each hand.
Special Olympics champion and PKU patient
This pretty young woman has PKU, an inborn error of protein metabolism that results from an impaired ability to metabolise the essential amino acid phenylalanine.
Member profile: 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.'
Friedreich's Ataxia
Friedreich's Ataxia is a genetic and progressive disorder of the central nervous system where the general symptoms are clumsiness, difficulties with balance...
Achondroplasia - Living in a tall world
Marco, 40 years old, is the first member of his family to be affected by achondroplasia, a bone growth disorder affecting 1 in every 15 000 births.
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,”
Spinal Muscular Atrophy
Yuliya, a five year old gorgeous blue-eyed girl, had a normal childhood until her first birthday. “By the time she was one, we noticed her having difficulties standing up...
Locked-in syndrome
Luigi Ferraro, was the happiest man in the world: his wife Daniela was about to give birth to their second child. Then, without warning, their whole world fell apart. Only five...
The Federation of European Williams Syndrome Associations (FEWS)
A federation of patient groups sharing the common goal of improving the lives of Williams syndrome patients
Thalassaemia International Federation
Patient groups worldwide united in 1986 creating the Thalassaemia International Federation
Daniel's life with Aniridia
Daniel Sanchez de Vega was diagnosed with Aniridia when he was one week old. His mother Rosa being affected too, the diagnosis was reached early.
Noonan Syndrome Angels: An Italian patient organisation is fighting for them
A child may be affected by Noonan syndrome in various ways: unusual facial characteristics, short stature, heart defects
CHARGE Syndrome: the daily battles of Jonas
Babies with CHARGE syndrome are often born with life-threatening birth defects, including complex heart defects and breathing problems.
Kabuki syndrome - very rare disease patients
'When I was pregnant with Victoria, I was quite confident that things would go as smoothly as for my first child"
Günther's disease - Fide Mirón
Hyper positive, a fighter, very active: three aspects of Fide in her own words.
Rare diseases have to be taken seriously (ENSERio)
First study on healthcare and social needs of people living with rare diseases in Spain.
New registry for rare diabetes
EURO-WABB is a new project aiming to establish a registry for Alström, Wolfram and Bardet Biedl syndromes and improve diagnostics, care, knowledge and treatment.
The rising voice of rare disease patients
The first and greatest hurdle in a rare disease patient’s life has always been and still is diagnosis.
AIRG Belgium: building hope
Claude knew that he had a health problem - he would sometimes have blood in his urine - but had somehow learned to deal with it. When his daughter Muriel was born in 1972, he...
Misko, a case study for Duchenne Muscular Dystrophy
Misko lives with Duchenne Muscular Dystrophy (DMD). His parents have created an eponymous foundation to offer helpful guidance to all parents of children with DMD
VHL online patient community: leverage for mutual support
Since December 2010, the Von Hippel-Lindau online patient community enables patients to meet, talk, learn and get stronger.
NET: Cancer in Camouflage
NET is a condition often unrecognised or misdiagnosed. NET-groep is striving to remedy this situation, by thinking outside the box, much like former NET patient Steve Jobs.
Rett Syndrome
Instead of focusing on the negative aspects of their daughters’ Rett Syndrome, two women draw strength from the positive.
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.
Leber Hereditary Optic Neuropathy (LHON)
The challenges of a dramatically under-diagnosed rare disease
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