CIENCIASMEDICASNEWS: Living with a Rare Disease: stories from patients and families

viernes, 18 de octubre de 2019

Living with a Rare Disease: stories from patients and families

The Voice of Rare Disease
Patients in Europe

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.

Steven’s story: Living with adrenoleukodystrophy

Steven believes that all men with adrenal insufficiency where the cause is unknown (idiopathic Addison’s disease) should also be tested for adrenoleukodystrophy (ALD). Here is his...

Carpe diem - Noémie’s story of living with amyotrophic lateral sclerosis

Mother of four Noémie was diagnosed with the motor neuron disease amyotrophic lateral sclerosis (ALS). Born in Luxembourg, she studied classical and lyrical singing at the Music Conservatory of Luxembourg and at the Conservatoire National Régional de Nancy. She is a recognised opera singer (soprano).

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.

Living with aortic dissection

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

Triumphs & defeats – Living with Behçet’s disease

Cindy from the US tells us her story of living with Behçet's disease, a chronic condition resulting from disturbances in the body’s immune system. Connect with others living with Behçet's disease in the...

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.

John tells his family’s story of living with familial cold autoinflammatory syndrome type 2

Familial cold autoinflammatory syndrome type 2 (FCAS2) is a rare inflammatory disease characterised by recurrent episodes of rash, joint and muscle pain, fever and chills, swelling of the extremities and conjunctivitis, all as a result of exposure to cold. This...

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.

Huntington disease

In sickness and in health, two husbands become heroes.

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.

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.

Borys’ story: Living with metachromatic leukodystrophy

This is the story of Borys the Hero, who just like any other hero has his own Deadly Enemy. In 2014, Borys was diagnosed with an incurable genetic disease called metachromatic leukodystrophy (MLD). MLD is a rare disease that...

Living with mitochondrial hypertrophic cardiomyopathy

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

Ritje & JiePie’s story: multiple system atrophy

Ritje’s husband JiePie passed away from the rare disease multiple system atrophy (MSA) in 2009. Here she tells their story. It took six years to get a correct diagnosis. Six years to be heard, to find a...

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.