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.
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
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.
Speaking with the eyes: 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
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
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,”
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.
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...
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.
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.
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.
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"
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.
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.
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
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.
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.
From Belgium to Sweden: two examples of 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
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
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
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).
