Jack & Chandler, Fanconi Anemia & Epilepsy, United States, June 29, 2020
We are Jack and Chandler from Chicago, IL. Jack was born with Fanconi Anemia (FA), a rare DNA repair deficiency and bone marrow failure genetic condition, and Chandler has been living with Epilepsy si...
Cristina, Mitochondrial DNA Depletion Syndrome Type 7 (or IOSCA), Romania, June 12, 2020
Matei's Story Matei was born on August 5th 2018, being an extremely healthy child.He has had an exciting development period. From the newborn to an active toddler he reached all the milestones that a ...
Lisa, Ehlers-Danlos syndrome, hypermobile type, United States, June 7, 2020
I wasn't diagnosed with EDS until age 55. I spent my whole life with dislocations, subluxations and chronic pain which I was told was all in my head. I could put my foot over my head with ease, I also...
Katherine, Mitochondrial disease, United States, June 5, 2020
Most high school students worry about getting good grades to make their parents happy or making friends in high school. I was not one of those students; towards the end of my junior year of high schoo...
Gillian, Limbic encephalitis with LGI1 antibodies, Israel, May 20, 2020
Sadly, since writing Paul's story on Limbic encephalitis anti-LGI1 and neuromyotonia (UMN), we are grieving because he passed away in mid-April this year. I would therefore like to add the following:T...
Nicole, Systemic mastocytosis, Italy, May 13, 2020
April 23th, 2017. It all started like this, or rather, it made everything worse like this ... Since I was a child I have suffered from muscle and bone pain, often also from gastrointestinal problems, ...
Erin, Hypophosphatasia, United States, May 7, 2020
Avalon (Avie) has a rare genetic disease, Hypophosphatasia (HPP), that is characterized by the abnormal development of bones and teeth. Avie, who is all too familiar with HPP, explains it in layman's ...
Madison, Cold Urticaria, United States, May 6, 2020
Hi I'm Maddie I'm 15 and 2 years ago I was diagnosed with Cold Urticaria or how I like to pronouce it UDICARDIA its much easier.One summer my whole life changed, I was out hiking in one of that favori...
Maggie, Cavernous lymphangioma, United States, April 17, 2020
Darcy, Episodic ataxia type 2, United States, March 29, 2020
My name is Darcy & this is my story "Life with Ataxia" my journey to diagnosis. I was born July 26th 1992 & I was considered a developmentally delay child. I was late to walk, talk & use m...
Shari Mcfarkand, Amyliodosis Al, United States, March 11, 2020
My husband was this amazing athlete, who turned his love for track into coaching, and working with troubled youth. Always healthy, one day he was fine and the next he just wasn't. We moved from cold...
Crystal, Trigeminal neuralgia, United States, March 5, 2020
My name is Crystal. I’m 23 years old, and was diagnosed with Trigeminal Neuralgia, in May of 2017. That was 4 days after my 21st birthday. I woke up and the right side of my face was numb. Immediately...
Fabi, Tetrasomy 15q26, United States, March 5, 2020
El es mi hijo javier tiene 3 años y con un síndrome que no es tan común quisiera en algún momento encontrar una familia con el cual poder aprender más sobre este síndrome y así poder ayudar más a mi h...
Stacey, Gastroschisis, United Kingdom, March 3, 2020
My son was diagnosed with gastroschisis at 17 weeks and 3 days I had to be induced at 33 weeks my son came at 33+1 the next day. My son had two surgeries when he was born in a span of a week he's now ...
Desiree, AL Amyloidosis, United States, March 3, 2020
Bombshell!!!!! I was in for a shock of my life. I did not see this coming by a long shot. Something that I had no control over. A life changing moment. Sitting in the doctor’s office, waiting for the ...
Agnes, PNH, United States, March 3, 2020
I was diagnosed with severe aplastic anemia in 2004 . Prior to that I was feeling tired all the time and couldn't keep my eyes opened. I thought I was iron deprived but that wasn't the case. Than...
Mary, Peroxisomal disease (zellweger syndrome), United States, March 2, 2020
I am the great, great aunt of a beautiful girl named Ainsley, who has Zellweger syndrome, a peroxisomal disease. I hate that there is no cure for her disease. She has so many health issues and she kee...
Victoria, Reflex Sympathetic Dystrophy, United States, March 1, 2020
In 2008 I was beginning my Junior year of high school, when on November 1st, while moving my great grandmother into a new apartment my world as I knew it crumbled around me. I dropped a marble table o...
Diane, Relapsing Polychondritis, United States, March 1, 2020
Each year I "celebrate" Rare Disease Day which was February 29th. Celebrate is a weird word to describe it, but it a day that I remember that I am not alone in this fight with a rare disease. I have...
Maria, GPA, United States, March 1, 2020
After many months with flu like symptoms, antibiotic after antibiotic I was diagnosed with vasculitis more specifically Graulomatosis with Polyangiitis Aka wegeners disease. A 19 year old girl put her...
