Stacie, ROHHAD, United States, November 6, 2019
Chylles Madalyn was healthy, high energy little girl with no fears, no worries & full of life. That's before she was affected by ROHHAD symptoms just prior to her 3rd birthday. After a year long b...
Kerry Ann, Triple X syndrome, United States, November 4, 2019
Imagine a world where you do not appear to have learning disability. I have a rare chromosome syndrome that few people have heard of: Trisomy X chromosome syndrome, also called Triple X syndrome or 47...
Ernestina (Ernie), Silver-Russell syndrome, United States, October 27, 2019
I had to show my California ID, when I was already over 18 to a lady that works at Walmart so I could get a sample of a pizza that was being sold. Yup, just for a slice of pizza, I mean I laughed it o...
Larry, Klippel-Feil malformation, United States, October 25, 2019
Hello, This is not my story, but of my grandson. Back in 2012, I was blessed with my first grandchild. Jayden came into our lives and we were blessed. In the hospital, I noticed that something wasn't ...
Shilpi, GNE myopathy, India, October 22, 2019
A short film on GNE Myopathy patient Shilpi and narrated in her own words. Shilpi is a lawyer and currently teaches at O.P Jindal Global University. It was only in her twenties that she learnt that sh...
Tarah, Donnai-Barrow syndrome, United States, October 20, 2019
My son was diagnosed with Donnai-Barrow syndrome.
juares, Undiagnosed, Spain, October 13, 2019
Time to time, suddenly, I lose control and sensitivity in my legs. Then I fall down.It's long for aprox. 15 minutes.Nobody knows what is it.
Jessica, Renal nutcracker syndrome, United States, October 11, 2019
I was diagnosed with Nutcracker syndrome 2 years ago. I had multiple unexplained symptoms for years that all resulted from this rare syndrome. It wasn't until I had an appointment with a new doctor, t...
B, Muckle-Wells syndrome, United States, October 10, 2019
By the summer of 2016, we've been to just about every doctor possible and through countless procedures in the hopes of finding answers with what's going on with with my daughter. It was also the summe...
Grasiela, Hypotonia-speech impairment-severe cognitive delay syndrome, Poland, October 3, 2019
Simona is a 13 year old Polish girl who was born on the 21st April 2006 in Wexford General Hospital. At birth everything was fine but after 3 months developmental issues started to show. Simona has be...
هبه, Mucopolysaccharidosis type 4, Somalia, September 28, 2019
فتاة تبلغ من العمر 18 سنه عاشت حياتها مع مرض نادر هو مرض عديد السكاريد المخاطي من النوع الرابع اكتشفت بهذا المرض عندما كان عمرها 9 سنوات، وهذا المرض جعلها تعيش حياتها بين المستشفى و بيت ولكن هي لم تست...
Paul, EGPA, Congenital myasthenic syndrome, Australia, September 25, 2019
Hi I’m Paul and this is my story so far….A long time ago in a galaxy far beyond the black stump lived a hermit trying to get by with his electrical contracting business. This hermit was supposed to ha...
Laure, Osteogenesis imperfecta, France, September 13, 2019
Bonjour je suis nee avec la maladie des os de verre. Jai passé mon enfance dans des plâtre. Pas de sport, pas de risque... On crois que sa passe a l'adolescence on l'oublie, mais en faite a 30 ans on ...
jamilla, undiagnosed, United States, September 5, 2019
Hello My name is Janice mother of Jamilla and I am writing on behalf of my daugher Jamilla. As a mother you always want to say its ok but very difficult to say that whne it no solution to her issues. ...
Rachit, Isaac syndrome, India, August 28, 2019
AN ENCOUNTER & COPING UP WITH A RARE CONDITION by Rachit This is written at a time when it’s as serious, an issue as Climate Change & Impact.Rare Health Condit...
Jill, Hereditary angioedema type 3, United States, August 22, 2019
My name is Jill, I am 35 years old, and by the looks of me most of the time, I am a normal green haired, tattooed mega nerd from Northern California. I can often be found wearing bright, bold clothes,...
Gülnur, Cystinosis, Turkey, August 18, 2019
Merhaba oğlum Arda . Altı aylıkken Sistinozis olduğunu öğrendik. Önce çok korktuk. Organlarını tek tek kaybedeceğini zannediyorduk. Onlarca ilaç ve belki diyaliz belkide nakil olacaktı. Sistinozis öğr...
Amy, Scleroderma, United States, August 15, 2019
Here I am again on the road. I spend more than half of my life in cars driving to and from Hospitals, Clinics, Doctor’s Offices and Treatment Centers. I guess you could say it’s just par for the cours...
Rachel, Acute necrotizing encephalopathy of childhood, Canada, August 8, 2019
Spring came early in 2009, our then 3-year-old daughter is an avid puddle jumper and my 9-month-old son has an ear infection. I am sleep deprived; my husband and daughter decides that it’s the perfect...
Amy, Scleroderma, United States, August 7, 2019
I have spent the majority of my adult life SICK. When I say sick I am not speaking about a common cold or even a appendicitis. My last year as a teenager I was diagnosed with a rare chronic AutoImmune...
