Matthew, Pallister-Killian syndrome, United Kingdom, February 24, 2021
Hi, I'm Matthew and I was born with the rare chromosome disorder called Pallister-Killian syndrome. This means that I have extra copies of the short arm of the 12th chromosome in some of my cells (PKS...
Dan, Neurofibromatosis type 1, United Kingdom, February 24, 2021
Hi, I’m Dan.I know I don’t look like there’s anything “special” about me, but I was born with a rare disease called Neurofibromatosis type 1 (NF1). NF1 is a genetic condition, it can be passed down fr...
Steph, Narcolepsy-cataplexy syndrome, Germany, February 23, 2021
I cannot really remember when it started, neither can I remember how it felt like no to be tired or being able to trust my body to get me through the day without a fight. What I do remember was going ...
Kay, Neurofibromatosis type 1, United Kingdom, February 23, 2021
I was diagnosised with Neurofibromatosis 1, when I was 11 weeks old. When I was nine I got scoliosis and had corrective surgery when I was 14 years of age. Majority of my NF are on my spinal cord and ...
Samiha, Ichthyosis, Bangladesh, February 23, 2021
A disease is considered rare when it affects a small to very small population of patients. A country defines a rare disease most appropriate in the context of its own population, health care system an...
xaviela, Aicardi syndrome, Mexico, February 23, 2021
Xavi born with a rare disease called Aicardi Syndrome, we Didn't knew something was wrong until she was 4 days old when she started seizing and we took her to the hospital, in the next 3 months she ha...
Hannah, VACTERL syndrome, United States, February 23, 2021
This is our happy, spunky, warrior baby, Ryan!!! He turned one in November with 6 surgeries under his belt!! While being completely fine in the womb, other than having one vessel/one vain in the umbil...
Jasminka, Acromegaly, North Macedonia, February 23, 2021
My rarity story is related to the difficulties in our society of researching, diagnosing, monitoring and treating patients with a rare disease. As well as in employment, social protection as a patient...
Ann, Lichen, United States, February 23, 2021
It was just one year since I had given birth to my first and only child. I thought I was going to have three children, but this diagnosis changed everything. Having a normal vagina, I took it for gr...
Clare, Neurofibromatosis type 1, United Kingdom, February 23, 2021
Hi I am mum to Darcie who is 5. Darcie was diagnosed with JXG and NF1 at approx 3 months of age.Juvenile xanthogranuloma is a rare usually benign condition that causes lumps on the skin due to excess ...
Michaela, Neurofibromatosis type 1, United Kingdom, February 23, 2021
In March 2020 lillie was just 3 months old, she was admitted to hospital and diagnosed with neurofibromatosis type 1. We had never heard of nf before this. This has being a whirlwind of a journey so f...
Kearyn, Neurofibromatosis type 1-Noonan syndrome, United Kingdom, February 23, 2021
i am kearyn "kicky" i am 8 years old. i have NF TYPE 1 with noonan syndrome but i also have congential glaucoma in both eyes , renal artery steniosis and moyamoya disease making me extra rare. i am re...
India, Neurofibromatosis type 1, United Kingdom, February 23, 2021
My name is India and I'm 10 years old.Nf1 has not been very kind to me, its caused pseudarthrosis in my tibia and I've had loads of operations. I also have learning disabilities and Asd and ADHD.But...
Ariek, Spinal muscular atrophy, Indonesia, February 23, 2021
Hello, this is the story of us “The Trio Brothers of SMA” from Jakarta, Indonesia.My name is Ariek, and I’m the oldest one (26 years old). I have Spinal Muscular Atrophy (SMA) type 3 and I was diagnos...
Gavin, Williams syndrome, United States, February 23, 2021
Gavin was born full term at 6lbs 3oz he was little but healthy at birth! Gavin was little and just struggled with eating and gaining weight. Gavin started becoming very fussy when eating so our GI spe...
Mallory, Duchenne muscular dystrophy, United States, February 23, 2021
Our Rare HeroThis is Grant, he is 11 years old and he is our Rare Hero. Diagnosed with DMD at age 4 he has the most amazing attitude and smile in spite of this awful muscle wasting disease. Grant teac...
Paul, Duchenne muscular dystrophy, United Kingdom, February 22, 2021
Hi Iam Paul 40 from Scotland . I try and life to the best and enjoy everyday always good to keep smiling and be positive too
Marine, Williams syndrome, United Kingdom, February 22, 2021
I was born with Williams syndrome, I had a heart op at 7 and my Williams syndrome is mild I'm 18, bi , and a Taurus and I'm 4 foot 9. I have 2 sisters and a brother , 2 cats and 2 chickens ✌️My person...
Martha, Williams syndrome, United States, February 22, 2021
Sweet Emmy Lou is my 4 1/2 year-old granddaughter and an absolute blessing! While visiting her nephrologist, he discovered an issue with her heart. Just before turning 4 months she underwent open-he...
Juanita, TTP, Canada, February 22, 2021
My name is Juanita and I am 21 years old. I was born in Colombia but now live in Canada. I was diagnosed with Thrombotic Thrombocytopenic Purpura (TTP) back in 2012 when I was 13 years old and still l...
