Lora, Post-SSRI Sexual Dysfunction (PSSD), Italy, November 28, 2020
My name is Lora; the story I tell begins in 2013, when I was 25 years old and, suffering from a severe depression caused by my sense of loneliness, dysmorphophobia and social anxiety, I was prescribed...
Craig, Sarcoidosis, United Kingdom, October 27, 2020
I was always a fit and healthy person, I'd never spent anytime in a hospital up until 6 1/2 years ago when my life changed completely. It started with an out of the blue kidney stone, whilst I was wor...
MARIA, FSHD, Brazil, October 24, 2020
Pedras no caminho, guardo todas. Um dia vou construir um castelo “. Fernando pessoaMeus pais eram normais quando casaram. Tiveram três filhos. Sou a mais nova. Quando tinha seis anos, meu pai apresent...
Erfan, Mucopolysaccharidosis (MPS), Iran, October 24, 2020
I was born in 2006 in Tehran-Iran. I stopped growing in the first year of my life. The doctors sent my genetic test taken from my wrist to Germany and the result was MPS Type 4. There was no treatment...
REGINA CÉLIA, Leiomyosarcoma of the corpus uteri, Brazil, October 19, 2020
Sou mãe de 3 meninos, 2 deles com uma doença rara chamada MUCOPOLISSACARIDOSE Tipo VI. Meu mais velho, Nilton faleceu aos 6 anos devido à complicações da doença. Meu caçula, Leonardo, conseguiu vir se...
LUIS EDUARDO, Mucopolysaccharidosis type 6, Brazil, October 19, 2020
Fui diagnosticado aos 2 anos e 6 meses, por conta do meu irmão mais velho, já na época, em investigação de diagnóstico, para Mucopolissacaridose. A investigação somente se concretizou 2 anos depois, c...
Mithat, Desbuquois syndrome, Turkey, October 19, 2020
2013 yılında Ankara Hacettepe Üniversitesi hastanesinde doğdum.Desbuqois sendromu teşhisi konuldu.Ortapedik ve idrar yolları ameliyatları oldum.Şu an 7 yaşındayım ve boyum 85 cm dir. Kilom ise 13 kg. ...
Rowena, Scleroderma, Philippines, October 13, 2020
Scleroderma is a group of rare diseases on Orphanet, but the exact type is not specified within this story. I think it is ok to publish though. Daisy 15/10In 2004 while undergoing marital and financia...
Gordana, Alport syndrome, North Macedonia, October 10, 2020
My name is Gordana, a mother or three – Emilija, Andrej and David. My daughter Ema was born twenty-five years ago, a healthy baby with the occasional fever and sore throat. Six years later I gave birt...
Sandra, Moyamoya Disease, United States, September 30, 2020
As a kid I was what they said very clumsy they said make sure she wore high top sneakers. I was always tripping over my feet and even broke my front tooth doing so.Things where very strange I sometime...
Ruhan, Sotos syndrome, South Africa, September 30, 2020
Hi everyone my name is Ruhan and i was born wish Soto syndrome ...I would like to tell a short story of my life living with Soto syndrome. When I was 5 years old I was diagnosed with Soto syndrome ......
Mariah, Undiagnosed (suspected THAP12 recessive mutations), Epilepsy, Infantile Spasms, Lennox-Gastaut Syndrome, Cortical Visual Impairment, Dysphagia, Hypotonia, Global Developmental Delay, United States, September 8, 2020
Emma and Abby are two sisters that share more than just a sibling bond, they also share an ultra-rare disease; one that has never been seen before. These young sisters are the first two cases in the w...
Polly, Mal de débarquement, United Kingdom, September 8, 2020
A UK patient perspective on Mal de Debarquement Syndrome.Although it is coded as an inner ear condition, Mal de Debarquement Syndrome (MdDS) is now considered to be a rare neurological condition. It i...
Julia, Hirschsprung disease, United States, August 18, 2020
It was our third day in the NICU… My husband and I went home to visit our older girls and to grab a few things for our hospital stay. When we returned, there were people swarming around Benji’s room a...
Sue, Pulmonary capillary hemangiomatosis, United Kingdom, July 20, 2020
So this is my story - sadly one without a happy ending My Daughter Jeni was 19 - days days off her 20th birthday she had an 11 week old baby and was a far as anyone knew healthy however she was living...
Chloe, Chronic thromboembolic pulmonary hypertension, United States, July 16, 2020
I was diagnosed with chronic thromboembolic pulmonary hypertension at the end of 2016, my sophomore year of high school. Getting to the diagnosis was quite difficult though. I was having a hard time b...
Melissa, Glycogen storage disease type 9b, Netherlands, July 6, 2020
Hi, I'm Melissa Quekel 23 years old and I live in the Netherlands with my fiance Bart. When I was 1 year old, I was diagnosed with type 6 glycogen storage disease. I was a very ill child and therefore...
Justine, Orbital Myositis, United Kingdom, July 1, 2020
I was 20 years old and in my final year at University, I spent 2 months with severe headaches and eye pain. It was affecting my job and affecting my school work, so I finally went to the doctor, she d...
Jack & Chandler, Fanconi Anemia & Epilepsy, United States, June 29, 2020
We are Jack and Chandler from Chicago, IL. Jack was born with Fanconi Anemia (FA), a rare DNA repair deficiency and bone marrow failure genetic condition, and Chandler has been living with Epilepsy si...
Cristina, Mitochondrial DNA Depletion Syndrome Type 7 (or IOSCA), Romania, June 12, 2020
Matei's Story Matei was born on August 5th 2018, being an extremely healthy child.He has had an exciting development period. From the newborn to an active toddler he reached all the milestones that a ...
