These people are living with a rare disease and educating the wider public.
Avery has Glycine encephalopathy (GCE) or nonketotic hyperglycinemia is an inborn error of glycine metabolism, inherited in an autosomal recessive manner due to a defect… Continue reading Avery’s Fight With NKH
Read full storyMy name is Dan, retired U.S. Navy, Operation Desert Storm; Enduring and Iraqi Freedom veteran and 10 year hereditary colon cancer WARRIOR w/a permanent ileostomy.… Continue reading Hereditary colon cancer live-case presentation
Read full storyMi chiamo Simone e sono nato il 22 febbraio 2014 a in provincia di Torino. La mia nascita è stata una grande gioia per mamma… Continue reading IL PICCOLO GRANDE GUERRIERO SIMONE
Read full storyWhen my oldest daughter was born, I was young, she was prefect. A new beautiful baby girl, no one could have guessed that 6 weeks… Continue reading My daughter
Read full storyHello, I am Youssra. I suffer from a disease, I think it’s rare because I haven’t found the cure to it yet. My story started… Continue reading Finding hope in chronic illness
Read full storyAlicia has a passion for helping others. She is a manager for a charity who helps individuals and children experiencing homelessness. In her free time,… Continue reading She believed she could, so she did.
Read full storyWe have been trying for a baby for six years. First naturally, then with help. We had to interrupt the artificial insemination process twice. The… Continue reading Even cystic fibrosis and diabetes didn’t stop my dream of becoming a mother, after 6 years we have a healthy son
Read full storyWe found out during pregnancy. Jergus dad had a classmate with this diagnosis so he knew it and was not a big tragedy. But parents’… Continue reading Our Jerguš is a creative and fun boy! Why should we convince him he’s sick?
Read full storyIn 2008 when I was leaving one job and going to another I’ll send started having problems with tunnel vision and by the time I… Continue reading The way people see me!
Read full storyHello! I’m Elodie and i’m 16 years old. When I was born, I was diagnosed with Duane Syndrome, means I have a nerf in my… Continue reading Are you looking at me?!
Read full storyWhat was supposed to be a routine cleaning at the dentist led to being diagnosed with two chronic diseases. Between checking for cavities and reminding… Continue reading “It’s all in your head.”
Read full storyWhy it took 28 years to officially be diagnosed with cacna1a rare gene mutation aka episodic ataxia-2 ? “Finally someone listened” I have a rare… Continue reading My Life with episodic ataxia
Read full storyOn June 3, 2003, the neurologist said, “You have Myasthenia Gravis”. I was 18 years old and had just finished my freshman year at Purdue… Continue reading SeAndrea’s Myasthenia Gravis Story
Read full storyTo begin, I am truly honored to be considered a “Hero” of Rare Disease and share my story with the world. While the diseases and… Continue reading Pituitary Cancer, Addison’s Disease, and everything in between
Read full storyConner is 7, he went undiagnosed until he was 5 years old, when the pandemic hit it took us 4 months to get our genetic… Continue reading Living with Angelman Syndrome-UPD
Read full storyOur daughter, Bianca was diagnosed with HSAN IV (hereditary sensory autonomic neuropathy) also known as CIPA (congenital insensitivity to pain with anhidrosis) at age 8… Continue reading A Life Without Pain
Read full storyIn august 2020 I started developing bruises all over my body, that would not heal for weeks, got blood tests done and was diagnosed with… Continue reading My aplastic anemia story
Read full storyIch bin Wiebke, 35 Jahre alt, und lebe seit Oktober 2020 mit einer sehr seltenen neurologischen Autoimmunerkrankung namens Paranodopathie. Innerhalb eines halben Jahres wurde ich… Continue reading Mein neuer Reisebegleiter: Paranodopathie
Read full storyOur story began in feb 2016 when our baby boy was diagnosed with GA1 , we had never heard of GA1 despite our other 5… Continue reading Two rare babies
Read full storyHi my name is Logan. I am 11 years old turning 12 on April 24. I was diagnosed with Loeys-Dietz syndrome type two in October… Continue reading Just a boy with a rare disease
Read full storyI turn 28 this year. I thought my 20’s were supposed to be the most exciting and fun of my whole life, but I have… Continue reading Brighter days are coming
Read full storyMy name is Jay i and I am 30 year old individual diagnosed at birth with an invisible disability known as Congenital Central Hypoventilation Syndrome… Continue reading Overcoming Challenges One Breath at a Time
Read full storyOur daughter Rylae-Ann was born with a rare neurotransmitter disorder known as aromatic l-amino acid decarboxylase deficiency or AADC Deficiency for short. This disease affects… Continue reading Hope for AADC Deficiency Community
Read full storyMy name is Toni and I am the founder of The Big Sunflower Project which raises awareness of the rare neuromuscular conditions called centronuclear and… Continue reading The Big Sunflower Project
Read full storyI had worked with computers my entire adult life, long hours in front of the computer take their toll on your body and your eyes… Continue reading Fighting for my eyes, fighting to be seen
Read full storyLillian is a beautiful, smart and loving 2 year old. When she was 14 months old she was unresponsive on the morning of September 26,2020.… Continue reading Tango2 Warrior
Read full storyMy husband and I met for dinner at a local restaurant, quickly ordering and trying to scarf some food down before Logan woke up and… Continue reading Logan’s story
Read full storyDobrý deň or should I say hello 🙂 I am Adam but to my followers, I am known as the AI Warrior. I am 12… Continue reading Adam, The AI Warrior
Read full storyMy name is Maddie, and I’m from Pittsburgh, Pennsylvania in the US. I have Hereditary Angioedema, which is a rare and potentially life-threatening genetic condition… Continue reading Living Beyond HAE
Read full storyWhen I was 11, I was diagnosed with Brown syndrome. Brown Syndrome is the common name for 4th nerve palsy, a rare disease impacting your… Continue reading Self Advocacy: A young timid girl to an outspoken woman
Read full storyNora Jane Almany was born on Monday, July 4, 2016. I had a normal pregnancy and normal delivery. When Nora arrived that evening, she did… Continue reading NJA > NKH
Read full storyI am Clive, an active, fit, and to the naked eye a healthy British Army veteran. In 2019, after several years of deteriorating function and… Continue reading Making the Most of Now
Read full storyMeet Tommy. See this beautiful smile and happy boy. He loves school, his riding therapy, going to local little league, watchimg music on his ioad.… Continue reading My hero
Read full storyHello my name is Michelle, I am a 45 year old rare disease warrior … My story, well where do I begin… I recall the… Continue reading She Rejoices in Hope
Read full storyMy name is Zhana. I’m a mother of one-year-old Dachi. He has a rare genetic mutation of SCN2A Gene. From the third day of his… Continue reading My Hero
Read full storyJimena tiene 5 años, era una recién nacida sana, al quinto día de nacida tuvo varias convulsiones, y desde ese momento inició un largo trayecto… Continue reading Jimena Mañán Mena
Read full storyOn April 18, 2013, my husband and I drove to the hospital for a scheduled C-section ready to welcome our 3rd son to our family.… Continue reading Alex is totally Jawsome!
Read full storyFui Mamá a mis 24 años, mi hija desde bebé presentó problemas de salud, Asís 18 años ella empezó a mejorar y yo a mis… Continue reading Madre e hija viviendo con una Enfermedad Rara
Read full storyThis year we will be dressing in rainbow stripes for #RDD2022. Would you like to know why? In 2020 our family was growing just as… Continue reading Finding Our Moon’s Mission: to cure SPG56
Read full storyLiving with rare genetic disorder EEF1A2 ~ Pika Bindi 🌞🌞🌞 Pika’ s representative card to EEF1A2 group My daughter Pika Bindi is 14 years old… Continue reading Pika Bindi ~ rare genetic disorder called EEF1A2
Read full storyI’m Evangelia. I live in Athens, Greece and teach English as a foreign language. I love cats and I definitely have a mild addiction to… Continue reading My journey with CVID
Read full storyI was a half marathon runner, in good shape. I hade no signs that something could be wrong in my body. It was a regular… Continue reading From a athlete to a cancerpatient
Read full storyMi nombre es Manuel tengo 12 años y soy de Argentina.Hace casi 3 años me diagnosticaron Paraparesia espastica hereditaria del tipo 5 spg5a enfermedad neurologica… Continue reading Luchar diariamente
Read full storyNora est née le 3 mars 2016. Elle est atteinte d’une maladie neurodégénérative rare PKAN d’origine génétique. Rien ne nous fait penser que Nora n’est… Continue reading Nora notre phénomène
Read full storyIn 2018 I was diagnosed with a rare, inherited retinal disease called Retinitis Pigmentosa. RP is an umbrella term for a host of eye conditions… Continue reading A slow Eclipse
Read full storyMy journey began at 13 when swelling from an extraction never went down so had to get a biopsy done on my jaw. I was… Continue reading The Strength is Within Us
Read full storyIn 2019 our daughter was diagnosed with epilepsy. We noticed a decline in abilities and trouble with walking so we had further testing done. An… Continue reading Sia Strong
Read full storyMy name is Natache Iamaya. I’m from Rio de Janeiro. I have Friedreich’s ataxia, a rare genetic disorder that damages the nervous system and impairs… Continue reading My life with Friedreich’s Ataxia
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