By Sotiropoulou, Neurofibromatosis type 1, Greece, February 26, 2021
My name is Lambrini .I live in Greece.I have a Neurofibromatosis type 1.It is not easy to be a patient with Neurofibromatosis.
All patients need a better quallity of life.Everybody must learn about NF and that NF patients struggle against NF and for a better life every day.
I urge you,stand by us!
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...
