Yohanna, SLC6A1, United States, March 1, 2021
My name is Yohanna. I have a 3-year-old name, Xander. He was born healthy, and everything was great until he reached six months. I noticed he was not getting his milestones, and of course, I was conce...
Maja, 1p36 deletion syndrome, Croatia, February 28, 2021
My daughter Mia was born with congenital cytomegalovirus infection and from birt we new she will face a lot of obstacles in her life. We were told she will never walk, talk etc. But she was little war...
BOULI, Sandhoff disease, infantile form, Lebanon, February 27, 2021
SuperBouli for rare disease day 2021Read my story or watch the video to know why I am superRarehttps://youtu.be/Rw4hV_sk6VQHello!!! I am Bouli, and this year, on the 28th of February, the rare disease...
Maria, Beta-thalassemia, United States, February 25, 2021
Keep On Smiling“Keep on smiling” the young doctor said to me at an impressionable age of ten. Those words, at that time, influenced the rest of my life. I was born with a rare disease, Beta Thalassemi...
Bibi, Amyotrophic lateral sclerosis, Austria, February 24, 2021
Hi, I’m Bibi, 32 years old, from Austria (Europe) and was diagnosed with ALS (Amyotrophic Lateral Sclerosis) at the age of 18.My first symptoms started to show in 2005 when I was 16 years old. I notic...
Claudia, Williams syndrome, Argentina, February 24, 2021
Mi nombre es Claudia, mamá de Nahiara, ella fue diagnosticada a los 7 meses de edad con Síndrome de Williams, una detección en el cromosoma 7q11.23. Dentro de las características principales de éste ...
Ugyen, Spinal muscular atrophy with respiratory distress type 2, Bhutan, February 22, 2021
Palden is a 12 year old girl from Bhutan. She was diagnosed with Spinal Muscular Atrophy (SMA), Type II, at the age of 9 months, as the first case and one of the only two diagnosed in the country. SMA...
Kay, Brooke-Spiegler syndrome, United States, March 29, 2021
Hi! My name is Kay Pierce and I have Brooke Spiegler Syndrome, BSS.In 1997, I was 17 years old when I first noticed my first bump. The bumps grew to various sizes and spread to cover parts of my scalp...
Kirsty, Netherton syndrome, United Kingdom, March 25, 2021
Like any rare condition, living with nethertons syndrome is a daily battle and the last three months has reminded me that I'm not in control of body. It's been tough! I've struggled, I've cried, I've ...
EHSAN, Okur-Chung Neurodevelopmental Syndrome, United Arab Emirates, March 23, 2021
My name is Ehsan I was born in February 2014 When I was born, I was suffering from Cleft palate and I had four surgeries, including in the ear and teeth .. after my birth I take my food by a gtube of ...
Samantha, Fanconi anemia, United Kingdom, March 22, 2021
Rowen was born with a condition called TOF/OA in basic terms her oesophagus was a dead end at the top and her stomach was connected to her lungs. Rowen had surgery at 3 days old and was best case scen...
Meital, Undiagnosed, malignant high blood pressure, recurrent respiratory infections, hypotonia, developmental delays, behavior issues, reflux, United States, March 21, 2021
Our journey started on January 16, 2011 when our son Eli of 4 month old suddenly collapsed at home. He was taken to the ER. He was intubated and resuscitated and all of the sudden our baby, that was c...
Sulaiman, Okur-chung neurodevelopmental syndrome, United Arab Emirates, March 17, 2021
Okur-chung neurodevelopmental syndrome is a rare disease that was diagnosed less than a year ago. She was 7 years old and was born with a clefts palate of the throat and had four different operations ...
Maya-ray, EDS, Scheuermanns, BlueRubber Bleb Syndrome, United Kingdom, March 16, 2021
I am 19 years old and a GB Team kayaker I write a blog on Facebook called Can u Kayak? That has lots of followers. I was diagnosed with EDS at about the age of 7 after seeing lots of different doctors...
Bethany, TRIO Related Intellectual Disability, United Kingdom, March 16, 2021
Delilah was diagnosed on Monday 12 November 2018 with TRIO Related Intellectual Disability. She was 6 years old.Ever since Delilah was born we knew something wasn't quite right. She couldn't feed prop...
Lisa, Mucous membrane pemphigoid, United States, March 16, 2021
Rare. Like one-in-a-million rare.When you’re talking about winning a mega-lottery, one-in-a-million feels winnable. But then again, when you’re talking about a lot of millions in exchange for a two-do...
Cecilia Castellini Webster, McCune-Albright syndrome, Italy, March 9, 2021
Il mio bisnipotino Cosimo (Il Grande) sta per compiere 8 anni ed ha la McCune-Albright Syndrome (MAS). Tutto cominciò la prima volta che lo vidi nudo e notai delle grandi macchie color caffellatte su ...
Richard, Idiopathic pulmonary fibrosis, United States, March 3, 2021
I was diaganosed with IPF at the age 59 and had a double lung transplant on August 12, 2019 in Nashville, TN at Vanderbilt Hospital by their Lung Transplant Department. *Find others with Idiopathic p...
Christina, Familial adenomatous polyposis, United States, March 3, 2021
My name is Christina and I am the 3rd generation people affected by FAP, yet was the 1st generation (and person) to get genetic testing, seek treatment, and get information to all other living family ...
Sahar, Fibrodysplasia ossificans progressiva (FOP), India, March 2, 2021
i was born in a strict country in which you have to be Mr/Miss Perfect or else you are not human, I don't know why people say that we are modern people but they want everything Perfect, Perfect partn...
Christian, Niemann-Pick disease type C, United States, March 1, 2021
My name is Christian, I'm 44 years old, and I live in Florida. My father is Swiss and my mother is Brazilian. I was born in Brazil... I speack Portuguese and English... I always had difficults in my a...
Coral, Acromegaly, United States, March 1, 2021
I am a recovering acromegalic - my tumor grew very slowly, over 35 0r 40 years and I believe this was because I became a vegetarian as a child and consumed very little animal protein. I have been comp...
Daniel, Pulmonary hypertension due to lung disease and/or hypoxia, United States, March 1, 2021
my name is Daniel. I was diagnosed with Pulmonary Hypertension in 2007. It wasn’t until 2010 that I found out that my youngest half-brother was diagnosed with PH as well. He died in 2012 at age 24 whi...
Anna, Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome, Poland, March 1, 2021
I have been suffering from rare autoimmune diseases related to the adrenal cortex.Since i was a child,and I have had to overcome many barriers and stereotypes about this disease thoughout my life.Ther...
Asher, Short bowel syndrome, United Kingdom, March 1, 2021
Hi, I'm Asher. I'm now 7 3/4 months old!When I was 6 weeks Doctors told my parents I was about to die, and the should say their final goodbyes. Twice.My bowel twisted - I developed a volvulus - and ev...
Kenny, Eastern equine encephalitis, United States, March 1, 2021
In August, 2019 I was taken by ambulance to the hospital with seizures. I ultimately had a 22 min seizure, was intubated, and spent a week fighting for my life. The doctors were baffled, but my wife p...
Breanna, Chiari malformation type, United States, February 28, 2021
Chiari malformation type , idiopathic intracranial hypertension, Eds, gastroparesis,All my life I've had headaches and pain in my joints. But when I was 12 I had a bad fall that caused blindness and h...
