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- What is an orphan drug?
- Promoting orphan drug development
- Orphan drug designation
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- Patient advocates involvement
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- Living with a Rare Disease
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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.
Discover the stories of hope, sorrow, and achievement in the ordinary lives of extraordinary people.
Duchenne Muscular Dystrophy: Misko, a case study
Misko lives with Duchenne Muscular Dystrophy (DMD). His parents have created an eponymous foundation to offer helpful guidance to all parents of...
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
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.
Niemann-Pick
It was Alberto Vargas' birthday when he got conclusive news that his youngest daughter, Valeria, had Niemann-Pick disease. Middle daughter...
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...
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...
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...
Osteogenesis Imperfecta
Osteogenesis imperfecta (OI) is a group of rare genetic disorders that mainly affect the bones.
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...
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.
Günther's disease - Fide Mirón
Hyper positive, a fighter, very active: three aspects of Fide in her own words.
Aniridia: Daniel's life
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...
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.
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...
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
Rett Syndrome
Instead of focusing on the negative aspects of their daughters’ Rett Syndrome, two women draw strength from the positive.
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...
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...
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...
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...
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"
Friedreich's Ataxia
Friedreich's Ataxia is a genetic and progressive disorder of the central nervous system where the general symptoms are clumsiness,...
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...
RareConnect
A social network of Rare Disease Communities led by NORD and EURORDIS in partnership with leading disease-specific patient groups. List of Rare Disease Communities:
- Alkaptonuria (AKU)
- Alström Syndrome
- Alternating Hemiplegia
- Atypical Hemolytic Uremic Syndrome
- Amyloidosis
- Behçet's Syndrome
- CAPS
- CDG
- Coats disease
- Cryoglobulinemia
- Cystinosis
- Dravet Syndrome
- DysNet, Dysmelia - Limb Differences
- Ehlers-Danlos Syndrome
- Epidermolysis Bullosa
- Erdheim-Chester Disease
- Evans Syndrome
- Familial Mediterranean Fever
- Fibromuscular dysplasia
- Glut1 DS
- Hereditary Leiomyomatosis and Renal Cell Cancer
- Hereditary Spastic Paraplegia
- Idiopathic Pulmonary Fibrosis
- Lipoprotein Lipase Deficiency
- Mastocytosis and Mast Cell Activation Disorders community
- Multiple Myeloma
- Multiple system atrophy
- Moebius Syndrome
- Narcolepsy
- Neuroacanthocytosis
- Paraneoplastic Neurological Syndromes
- Porphyria
- Propionic Acidemia
- Pulmonary Hypertension
- Rett Syndrome
- Trimethylaminuria
- Von Hippel-Lindau
- Waldenstrom macroglobulinemia
- Whim syndrome
- Alkaptonuria (AKU)
- Alström Syndrome
- Alternating Hemiplegia
- Atypical Hemolytic Uremic Syndrome
- Amyloidosis
- Behçet's Syndrome
- CAPS
- CDG
- Coats disease
- Cryoglobulinemia
- Cystinosis
- Dravet Syndrome
- DysNet, Dysmelia - Limb Differences
- Ehlers-Danlos Syndrome
- Epidermolysis Bullosa
- Erdheim-Chester Disease
- Evans Syndrome
- Familial Mediterranean Fever
- Fibromuscular dysplasia
- Glut1 DS
- Hereditary Leiomyomatosis and Renal Cell Cancer
- Hereditary Spastic Paraplegia
- Idiopathic Pulmonary Fibrosis
- Lipoprotein Lipase Deficiency
- Mastocytosis and Mast Cell Activation Disorders community
- Multiple Myeloma
- Multiple system atrophy
- Moebius Syndrome
- Narcolepsy
- Neuroacanthocytosis
- Paraneoplastic Neurological Syndromes
- Porphyria
- Propionic Acidemia
- Pulmonary Hypertension
- Rett Syndrome
- Trimethylaminuria
- Von Hippel-Lindau
- Waldenstrom macroglobulinemia
- Whim syndrome
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