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Living with a Rare Disease
Most rare diseases have no cure, so living with a rare disease is an ongoing learning experience for patients and families. Here is a collection of stories and videos from people who have generously shared their experiences of living with a rare disease. Would you like to share you own experience? Contact us for more information
Search the below living with a rare disease stories that are listed A – Z according to disease name.
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.
Alkaptonuria: Infant indication, adult onset
Simon Laxon was, unusually, diagnosed with Alkaptonuria (AKU) when he was six weeks old.
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.
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.
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.
Chromosome 18 disorders: a European parent group to lean on
Acting at European level to gather families, networks, provide mutual support and stimulate research.
CMTC: The Dutch Cutis Marmorata Telangiectatica Congenita Association
Reaching out beyond the frontiers
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.
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 children with DMD
Dysmelia: 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.
Ehlers-Danlos syndrome: Fighting from Belgium to Sweden
Florence Simonis summarises accurately, if a bit sadly, the life of a rare disease patient.
Facioscapulohumeral muscular dystrophy: an entire family affected
My name is Daniela Chiriac. I am 34 years old, and a member of a family of three, including my mother and my elder sister. All of us are suffering from progressive muscular dystrophy. I was diagnosed with Facioscapulohumeral muscular dystrophy in 2010, after a bad episode at work.
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.
Fragile-X syndrome: Insight from two generations
Paul and brothers Sebastien and Antoine have Fragile-X syndrome. Two mothers share their experience.
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...
Giant Axonal Neuropathy
With the aid of University of Ghent Professor Rudy Van Coster, we have produced a flyer to help parents and clinicians identify GAN.
Günther's disease - Fide Mirón
Hyper positive, a fighter, very active: three aspects of Fide in her own words.
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"
Leber Hereditary Optic Neuropathy (LHON)
The challenges of a dramatically under-diagnosed rare disease
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 hours after Daniela gave birth, she started having headaches and went into a coma.
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.
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.
Living with mitochondrial hypertrophic cardiomyopathy
Tristan and Lily were second-prize winners in the 2013 EURORDIS Photo Contest
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.
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 the incurable degenerative disorder.
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
Living with a rare disease: Okamoto syndrome
My first daughter Marilena (from Maria Eleni) was born prematurely (32 weeks of pregnancy) due to oligohydramnios, a few weeks before the Olympic Games were held in Athens in 2004. She had very bad respiratory issues to begin with. She was diagnosed with Okamoto syndrome when she was 2 years old.
Osteogenesis Imperfecta
Osteogenesis imperfecta (OI) is a group of rare genetic disorders that mainly affect the bones.
Wes’ Story: Living With Peutz-Jeghers Syndrome
Wesleyon Zollicoffer was born a fighter. At the age of eight doctors discovered that he had inherited the genetic disease Peutz-Jeghers syndrome (PJS) from his mother.
PKU: 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.
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,”
Retinoblastoma - With ocular prosthesis, but without velvet gloves
How children live with eye cancer
Rett Syndrome
Instead of focusing on the negative aspects of their daughters’ Rett Syndrome, two women draw strength from the positive.
Sanfilippo Syndrome: 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.'
Philippa’s Story: Living with Superior Semicircular Canal Dehiscence Syndrome
Philippa has superior semicircular canal dehiscence syndrome (SCDS), a rare balance disorder
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.
Spinal Muscular Atrophy
Yuliya, a five year old gorgeous blue-eyed girl, had a normal childhood until her first birthday.
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.
Strümpell-Lorrain disease
Philippe Grammont, founder and Vice-President of the French Association for Strümpell-Lorrain tells his story
Tuberous Sclerosis - Marianna and Katerina Lambrou
Marianna Lambrou stepped up to the podium at the European Conference on Rare Diseases with a smile to give her presentation as part of the second topic to be addressed by the conference:
Xeroderma Pigmentosum - Seris Family
The doctors' advice was to “let them live a normal life”. They could offer nothing more in view of the severe and irreversible effects of the disease.
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