Δαμιανή, Neurofibromatosis type 1, Greece, February 26, 2021
My name is Damiani and I am from Greece.I have NF 1.I learned to live with my rare disease and I will try to have a better quality of life. Your support is important for all of us patients with Rare ...
Michelle, Spinal muscular atrophy type 2, Germany, February 26, 2021
Mein Name ist Michelle, ich bin 24 Jahre alt und habe SMA Typ zwei. Ich arbeite als Betreuungskraft mit Senioren und liebe es sehr! Seit Dezember 2020 bekomme ich Risdiplam und merke langsam kleine Fo...
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 ...
Lynne, Idiopathic intracranial hypertension, United Kingdom, February 26, 2021
My name is Lynne I am 56 about seven years ago I started to feel ill. Yes I was overweight but quite healthy. I started to fall over had vision loss. And ringing in my ears and severe headaches. After...
Amy, Familial cold autoinflammatory syndrome type 2, United States, February 26, 2021
"One in a million" - that's the phrase I heard my doctor describe my disease to a nurse as I was coming out of anesthesia. I was recently having a colonoscopy to find out why I was bleeding so much in...
Amanda, Agammaglobulinemia, United States, February 26, 2021
As a child, I was always sick. Whether it was an ear infection, strep throat, and a sinus infection. When I was 16, I was diagnosed with Hodgkin's and Non-Hodgkin's Lymphoma. After I completed chem...
Savannah, CVID, United States, February 26, 2021
Hello, my name is Savannah. My journey started when I was very young. As a young child I was sick.... well, a lot! It had gotten to the point to where people would tell me I was just making it up fo...
Sunny, Septo-Optic Dysplasia, United States, February 26, 2021
I was born with a congenital rare disease called “Septo-Optic Dysplasia”, which caused further complications with diagnostic names that are just as long and complicated. Basically, my pituitary gland ...
Giorgos, Jacobsen syndrome, Greece, February 26, 2021
Hello everyone, I'm Giorgos - that's "George" in Greek - and I'm 19 years old. I was diagnosed in 2009 with a rare genetic disorder: Jacobsen syndrome with 11q24.1-qter deletion, a disorder so rare th...
Wei, Spinal Muscular Atrophy type III, Singapore, February 26, 2021
Hi there I am Wei, and I have spinal muscular atrophy type III. I was quite young when I found out about my condition and honestly did not put too much thought into it. I only wanted to lead a normal...
Amanda, PHACE syndrome, Australia, February 25, 2021
Levi was born with the most perfect little face and smoothest, softest skin, after a few hours we noticed what appeared to be large bruising. Checked over by the paediatric doctor at the hosptial, it ...
Kaila, Scleroderma, United States, February 25, 2021
If 2020 was not already the craziest year to ever happen, I was also diagnosed with Scleroderma (Diffuse Systemic) on April 16th of that year at 27 years old. Prior to this diagnosis I had no idea thi...
Robin, Nonketotic Hyperglycinemia (NKH), United States, February 25, 2021
My daughter, Saige Elizabeth, has a rare condition called Nonketotic Hyperglycinemia (NKH). This is her story.SAIGE’S STORYSaige was born July 30, 2010, a beautiful, calm, mellow, and healthy baby gir...
Deanna, Dystrophic Epidermolysis Bullosa, Canada, February 25, 2021
It’s More Than Skin, no matter how unique our outer appearance may be, it is our innermost self that shines brightest and defines our legacy. My name is Deanna, I am an emerging contemporary artist, f...
Blake, Pituitary apoplexy, Hypopituitarism, Ireland, February 25, 2021
I guess I'll start from the beginning for me. I went to bed one weekend night but was woken up abruptly shortly after feeling a bad pain in my head. I'm not someone who suffers from headaches that muc...
Hannah, Idiopathic intracranial hypertension, United Kingdom, February 25, 2021
I was diagnosed a week after my 14th Birthday. I had been suffering with terrible headaches 24/7 for a year after being unable to keep up attendance at school. I LOVED school. In the lead up to diagn...
Kassie, Ehlers Danlos Syndrome, United States, February 25, 2021
My name is Kassie Benoit and I am 57 years old. I was born and raised in New York, but moved to Las Vegas with my parents when I was 15. I always knew I was “different” growing up, but never knew wh...
Chris, Chronic myeloid leukemia, Australia, February 25, 2021
In July 2020 I was admitted to hospital in terrible pain coming from my back! After CT scans it showed I had 3 bulging discs.Obviously routine blood tests were taken and only 48hrs after I was admitte...
Tata, PMM2-CDG, Georgia, February 25, 2021
Little girl Natalia Franchuk - First PMM2-CDG from the country of GeorgiaWhen Natalia was born 10 years ago everything seemed fine but when she was 40 days old he became sick and no one could find th...
Maria, Nicolaides-Baraitser syndrome, Australia, February 25, 2021
Our beautiful little boy Oskar was with NCBRS just over a year ago, I first uploaded his story last year and here we are again raising awareness for Nicolaides Baraitser Syndrome. When Oskar received ...
