Ellen, Rpl10, United States, July 18, 2018
My son Evan wasn't diagnosed till he was almost 5 years old with a rare genetic condition called RPL 10. I've come to find out the we are the only family to have this genetic condition. I've watched m...
Karen, Homocystinuria due to cystathionine beta-synthase deficiency, United States, July 18, 2018
My husband, Mark and I have been together for 34 years! We grew up a mile from each other and met in high school. We got married in 1989 and had our first child, Benjamin in June of 1991. Benjamin w...
Lauren, Eosinophilic fasciitis, United States, July 4, 2018
I always thought I was pretty healthy. I ate well for the most part, felt great, and doctor’s appointments always well. I never would have imagined that I would be diagnosed with a rare disease that w...
Jalany, Retinitis pigmentosa, Morocco, July 3, 2018
HELLO we discovered that My daughter SHE 3 YEARS 10 MONTH S her vision is very weak. We made glasses but it is not improved, we did the reeducation the wild oculusion. I inform The ophthalmologist s...
Laura, Giant cell tumor of bone, United Kingdom, June 27, 2018
In september of 2017 i attended my football club for a normal training session which ended pretty badly as i landed in a pretty bad tackle and my ankle twisted and popped. my mum took me to the hospit...
Abigail, Perthes disease, United Kingdom, June 21, 2018
my name is Abigail and i was diagnosed with chromosome 12 deletion and has learning disabilities. She has Perthes disease in her left hip - her leg length discrepancy and contracture 5th finger in my ...
Dianna, Medullary sponge kidney, United States, June 12, 2018
Kari got sick when she was 17. She was complaining of a lot of pain. When the Drs ordered CT scans they realized her kidneys were full of kidney stones. I took her to see doctors at UVA, Johns Hopk...
Tonya, Tarlov cyst, United States, June 9, 2018
I began having lower back and leg pain with numbness in 2016. I went to a local ER and the Dr got aggravated with me because I refused to take medications without a diagnosis. He basically said I was ...
Raechel, Schizencephaly, Philippines, June 8, 2018
Hi I'm Raechel , I have a daughter who battles Schizencephaly and Seizures, among my 3 children, my youngest got this rare disease, though it's heartbreaking seeing her crying out loud and I even don'...
Vickie, Pigmented villonodular synovitis, United States, June 3, 2018
When I was about 10 I tripped a fell against an old rusty motorcycle. I ended up with a two inch gash across my left knee. My mom took me to the doctors house where he stitched me up on his diningroom...
Alessandra, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Italy, May 25, 2018
Hi, I have a 4 year old boy with Smith-Kingsmore Syndrome (genetic mutation of the gene mTOR). This mutation is causing him general developmental delay and autism. It seems there are less than 10 case...
Virgil, Mesothelioma, United States, May 24, 2018
As a young man I worked hard to earn a living. I didn’t mind that it was back-breaking work tearing down old buildings on a demolition crew; I just wanted to make money to have a better future. I didn...
Prateek, Isolated Klippel-Feil syndrome, United States, May 18, 2018
My name is Prateek Kumar Shukla. I am a second year medical student at Kent State University - College of Podiatric Medicine. My journey towards becoming a foot and ankle surgeon is one shaped by my c...
Jody, Ocular Melanoma, United States, May 14, 2018
Ocular Melanoma (OM), two words I had never heard together before September 2009. The purpose for sharing my story is to educate people about Ocular Melanoma and offer hope to newly diagnosed patients...
Romano, FOSMN syndrome, Netherlands, May 8, 2018
About six or seven years ago I went to see my doctor about a twitch on the left side of my face. She didn't know what it was, and since it seemed to fade I paid no mind to it any further. About four y...
Satish, Adrenomyeloneuropathy, India, April 27, 2018
I had no idea there is such a thing as ALD/AMN though I am now aware.My son Rohan, had started working after completing his BBA and within a few months he just could not walk. Around this time four ye...
Celine, Interstitial lung disease, United Kingdom, April 21, 2018
Well they say 3s a lucky number not for me I'm 47 yr old f had this disease around 2 half to 3yr isherwood since I stopped smoking 20 a day after having problems got sent to see a few professionals re...
Becky, Congenital pulmonary lymphangiectasia, United Kingdom, April 14, 2018
Hi please can anyone help, as a family we are desperate to find help for my 7 month old niece Connie Warren. She has been diagnosed with CPL - Congenital Pulmonary Lymphangiectasia a rare lung disease...
Wendy, Small fiber sensory neuropathy, United States, April 11, 2018
I decided to add my experience here after reading Brooke's story. It has been almost fifteen years since the onset of Small Fiber Sensory Neuropathy in late 2004. The disorder is prefaced "Idopathic",...
Laurie, Ledderhose disease, United States, April 3, 2018
About ten years ago I felt a painful lump in my left foot. I ignored it thinking I must have stepped on something. Over time I did a bit of research and discovered I have Ledderhose disease. I had my ...
