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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.
Raising awareness in memory of our Sister

Raising awareness in memory of our Sister

Sarah, Congenital diaphragmatic hernia, United Kingdom, February 28, 2021

We like to raise awareness in memory of our big sister Chloe-Elise who was born with CDH. Chloe was born with a left sided hernia and sadly grew her wings 12 days later, every year we raise money and ...

我就是我 我就是我

認識與接受它,更想积极傳达給更多人了解

May, Primary biliary cholangitis, Malaysia, February 28, 2021

2017年那年刚好40岁,身体每况下降,白天终是昏昏欲睡。刚开始还以为是睡眠不足够,身体免疫系统出问题,皮肤敏感日夜严重,眼睛皮下生油泡去看皮肤医生,医生建议我做一个全身检查,毕竟我也多年未做全身体检查了。结果报告出炉肝脏亮起红灯,医生告诉我一个未成听过の(慢性)罕见疾病名称。上网搜索查询这到底是什么疾病?不时问自己一向来非常注意飮食和身体健康の我,为何会得这罕见疾病?为什么是我?这疾病在东南亜是...

A long haul

A long haul

Trudi, Hypoparathyroid, United Kingdom, February 28, 2021

2009 was a difficult year. February - I lost my husband suddenly to heart attack. May - had my thyroid removed. June - Managed to finish my degree that I had been doing while working. October got a mo...

Rowan Rowan

Rowans journey with Tay-Sachs disease

Deborah, Tay-Sachs disease, B variant, infantile form, United Kingdom, February 28, 2021

This is my son Rowan he was diagnosed with Tay-Sachs disease in April 2020, when he was 11 months old. He started to manage to sit unaided, then all of a sudden he couldn't. We also noticed he wouldn'...

Odyssey of MRKH type 2

Odyssey of MRKH type 2

Zografia, MRKH syndrome type 2, Greece, February 28, 2021

My 8-year-old daughter, Georgia was born with a left solitary kidney. At an annual medical examination in 2019, our doctors told us that she has a left solitary kidney ectopic, that she has no right k...

carmen carmen

délétion 2P25.13

Angélique et Carmen, Deletion of 2P25.13, France, February 28, 2021

Bonjour,Je suis française , j'habite en Auvergne. Je suis maman d'une petite fille de 5 ans atteinte d'une délétion terminale en 2P25.13.Elle a un retard de développement et une obesité.Actuellement e...

My daughter, my force and my hope My daughter, my force and my hope

MCAS and POTS

Delphine, Mast cell activation disorder, Switzerland, February 28, 2021

Hello everybody, 6 years ago after the delievery of my daughter Charlyne I was suddently not able to walk or to stand up without fainting.My body seemed to be dead. It didn't wanted to operate anymore...

Giorgos fighter Giorgos fighter

The hero of NF1

Leonidad, Neurofibromatosis type 1, Greece, February 28, 2021

Ο γιος μου Γιώργος 3,5 ετών πάσχει από το σύνδρομο της NF1 που προήλθε από γενετική μετάλλαξη. Ο τεράστιος αυτός μαχητής δίνει αγώνα ζωής με τρεις όγκους και διάσπαρτα γλοιωματα στο κεφάλι του και αντ...

Kayla Kayla

Kaylas story

Kathryn, Lamb-Shaffer syndrome, Australia, February 28, 2021

Kayla is a beautiful 3 and a half year old. Although she has so many things going on, she is so happy and lights up every room.She was first diagnosed at 18 months with having global developmental del...

Little Hero

Little Hero

Matejko, Duchenne muscular dystrophy, Slovakia, February 28, 2021

Hi. My name is Matejko. I'm 3 years old and I have Duchenne muscular dystrophy. I know it almost 5 months. It´s very hard but my family is supportive and they love me so much. Every day is new start, ...

Můj život s aHUS

Můj život s aHUS

Markéta, Atypical hemolytic-uremic syndrome with anti-factor H antibodies, Czech Republic, February 28, 2021

Zdravím,moje jméno je Markéta v roce 2013, kdy mi bylo 16 let, diagnostikuji vzácné onemocnění s názvem atypický hemolyticko-uremický syndrom. Následně byly detekovány účinné proti faktoru H, které js...

Living with autoimmune neutropenia and AA Amyloidosis

Living with autoimmune neutropenia and AA Amyloidosis

Ramona, Autoimmune neutropenia, Italy, February 28, 2021

                                                RARE DISEASE DAY                       Living with Autoimmune Neutropenia and AA AmyloidosisOn the occasion of  RARE DISEASE DAY I'd like to share a few...

Me & my companion Rufus Me & my companion Rufus

Learning to live with pain

Erica, Complex regional pain syndrome type 1, Australia, February 28, 2021

I was diagnosed with Complex Regional Pain Syndrome (CRPS) in my right shoulder/arm about 3 yrs ago. This disease involves a dysfunction of the peripheral nervous system (neurological disorder) that c...

I am stronger than CdC !

I am stronger than CdC !

Alper, Cri du chat syndrome, Turkey, February 28, 2021

Alper is born with cri du chat syndrome. He ha been a true warrior since he was born. After all therapies, efforts, travels, doctor appointments, medications, daily routine struggles he had; he is the...

Bianca Isabella Bianca Isabella

Leucodistrofia metacromática infantil

Diana, Metachromatic leukodystrophy, late infantile form, Mexico, February 28, 2021

Ella es nuestra hija Bianca Isabella de 3 años de edad y tiene Leucodistrofia metacromatica infantil una enfermedad genética y neurodegenerativa. Nosotros somos de México y desde que ella nació su des...

My battle with my bones

My battle with my bones

Richard, Pseudohypoparathyroidism type 1B, United Kingdom, February 28, 2021

I've found it difficult to stand up for over 20 years now, the worst part is getting out of bed after a busy day. When I was younger, I found myself regularly spraining my ankles, which didn't help - ...

THE DIFFICULT DIAGNOSIS OF ALD AND AMN CHANGED OUR WORLD TOTALLY

THE DIFFICULT DIAGNOSIS OF ALD AND AMN CHANGED OUR WORLD TOTALLY

MEDHA, Adrenomyeloneuropathy, India, February 28, 2021

My son Aniket diagnosed as ADDISONS DISEASE and Primary HYPOGONADISM at the age of 19 yrs ..Both diseases well controlled .He did his postgraduation and was working .At the age of 26 yrs having behavi...

The trial and error Guinea Pig

The trial and error Guinea Pig

Emma, Desmoid type fibromatosis, United Kingdom, February 28, 2021

I have a desmoid type fibromatosis tumour in my left hip. It was discovered a year after I gave birth to my son in 2017. I was told I had PGP at 20 weeks pregnant and had to use crutches to walk. I ha...

Jayson (right 2), SMA family day, Malaysia Jayson (right 2), SMA family day, Malaysia

Keep walking with Jayson, a family’s journey with SMA.

Pruiney, Spinal muscular atrophy, Malaysia, February 28, 2021

Jayson was born in 2016. And just like his two older brothers, he was a healthy, happy baby. With no family history for any unique genetic disease, Jayson never underwent any genetic screening and did...

Living with Autoimmune Liver Disease (Hepatitis)

Living with Autoimmune Liver Disease (Hepatitis)

Sheena, Autoimmune hepatitis, United Kingdom, February 28, 2021

Hello I became jaundiced 10 years ago when I was 55 years old .I saw my doctor who did blood rests for my liver which came back abnormal.I was referred to the hospital they did further tests plus a li...

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