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.

read more...
 

Alkaptonuria: Infant indication, adult onset

Simon Laxon was, unusually, diagnosed with Alkaptonuria (AKU) when he was six weeks old.

read more...
 

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.

read more...
 

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.

read more...
 

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.

read more...
 

Living with aortic dissection

My name is Timo. In 2012, I was diagnosed with a rare disease called aortic dissection (AD) type A.

read more...
 

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.

read more...
 

Chromosome 18 disorders: a European parent group to lean on

Acting at European level to gather families, networks, provide mutual support and stimulate research.

read more...
 

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.

read more...
 

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

read more...
 

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.

read more...
 

Ehlers-Danlos syndrome: Fighting from Belgium to Sweden

Florence Simonis summarises accurately, if a bit sadly, the life of a rare disease patient.

read more...
 

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.

read more...
 

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.

read more...
 

Fragile-X syndrome: Insight from two generations

Paul and brothers Sebastien and Antoine have Fragile-X syndrome. Two mothers share their experience.

read more...
 

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...

read more...
 

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.

read more...
 

Günther's disease - Fide Mirón

Hyper positive, a fighter, very active: three aspects of Fide in her own words.

read more...
 

Huntington disease

In sickness and in health, two husbands become heroes.

read more...
 

Ichthyosis - Flavio Minelli

'My wife and I knew that my father-in-law suffered from ichthyosis, but we didn't associate it with a genetic condition,' says Flavio Minelli, member of the Board of Eurordis.

read more...
 

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"

read more...
 

Leber Hereditary Optic Neuropathy (LHON)

The challenges of a dramatically under-diagnosed rare disease

read more...
 

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.

read more...
 

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.

read more...
 

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. 

read more...
 

Living with mitochondrial hypertrophic cardiomyopathy

Tristan and Lily were second-prize winners in the 2013 EURORDIS Photo Contest

read more...
 

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

read more...
 

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.

read more...
 

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. 

read more...
 

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

read more...
 

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.

read more...
 

Osteogenesis Imperfecta

Osteogenesis imperfecta (OI) is a group of rare genetic disorders that mainly affect the bones.

read more...
 

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. 

read more...
 

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.

read more...
 

Prader-Willi Syndrome: A Story of a Rare and Unique Life

My name is Pia. My husband John and I have a rare and unique daughter, Olivia, who is 15 years old.  

read more...
 

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,”

read more...
 

Rett Syndrome

Instead of focusing on the negative aspects of their daughters’ Rett Syndrome, two women draw strength from the positive.

read more...
 

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.'

read more...
 

Philippa’s Story: Living with Superior Semicircular Canal Dehiscence Syndrome

Philippa has superior semicircular canal dehiscence syndrome (SCDS), a rare balance disorder

read more...
 

Living with Scleroderma & Raynaud’s Disease

During the autumn of 1997, aged 24, my fingers became very stiff and swollen with shiny tight skin

read more...
 

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.

read more...
 

Spinal Muscular Atrophy

Yuliya, a five year old gorgeous blue-eyed girl, had a normal childhood until her first birthday.

read more...
 

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.

read more...
 

Strümpell-Lorrain disease

Philippe Grammont, founder and Vice-President of the French Association for Strümpell-Lorrain tells his story

read more...
 

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:

read more...
 

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.

read more...
 
 
The voice of rare disease patients in EuropeEURORDIS The international voice of people living with rare diseases, Rare Diseases International is a EURORDIS initiativeRare Disease International Bringing together patients, families and experts to share experiences in a moderated multilanguage forum, RareConnect is a EURORDIS initiative RareConnect An international awareness raising campaign taking place on the last day of February each year, Rare Disease Day is a EURORDIS initiativeRare Disease Day Join the largest gathering of rare disease stakeholders across Europe, at the biennial European Conference on Rare Diseases and Orphan Products. ECRD is a EURORDIS initiativeEuropean Conference on Rare Diseases