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Share your photos, videos and your experiences!

Be part of Rare Disease Day by sharing your story with others and sending a message of solidarity! You can write about your story and also submit photos or a video testimonial.
Loving the garden. Loving the garden.

PKS and me

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...

In my happy place, out on the water. In my happy place, out on the water.

NF1 and me

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...

Accepting that you are not "just" tired is the first step

Accepting that you are not "just" tired is the first step

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 holding spray can crossing the word did out Kay holding spray can crossing the word did out

Love, Life & disABILITY

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 ...

Ichthyosis Vulgaris Ichthyosis Vulgaris

Challenging Rare Everyday – Ichthyosis, A Rare Disease Perspective

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...

My wonder Xavi

My wonder Xavi

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...

Ryan Ryan

Ryan’s Journey with VACTERL syndrome.

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...

Recognize the rare - accept it" Recognize the rare - accept it"

"Recognize the rare - accept it"

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...

The day of diagnosis - Lichen Sclerosus

The day of diagnosis - Lichen Sclerosus

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...

What is Neurofibromatosis type 1?

What is Neurofibromatosis type 1?

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 ...

When we learnt about neurofibromatosis.

When we learnt about neurofibromatosis.

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...

rare rare

i am rare and i am proud

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...

Me Me

NF1 AND ME

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,ilham, tegar and our parents ariek,ilham, tegar and our parents

The Trio Brothers of SMA

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...

Love Doesn't Count Genes Love Doesn't Count Genes

Gavin's story

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...

My Rare Hero

My Rare Hero

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...

Me in my Van Me in my Van

Living with DMD

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

My Williams syndrome life

My Williams syndrome life

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...

Emmy Lou Emmy Lou

Little Miss Emmy Lou

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 and TTP Juanita and TTP

TTP showed me what I am here for

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...

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