ludovic, Fabry disease, Belgium, April 13, 2019
My name is Ludovic I’m 40 I have Fabry’s disease not having had the chance to be like the others being small. I decided to fight my illness enjoying life as if every moment was the last. I want to sen...
danielle, idiopathic ketotic hypoglycemia, Denmark, April 12, 2019
Our story Issues with multitasking, excessive activity and restlessness, poor planning and disorganization, lack of focus, issues with memory loss, issues with on-going depression and years of issues ...
Theresa, Idiopathic Intracranial hypertension, United Kingdom, April 5, 2019
I have a rare disease that suddenly changed my life. One day I was me Theresa the next I was someone I didn’t recognise, who I did like or who I wanted to be. It changed me I was no longer the person ...
Jessica, Phelan-McDermid Syndrome 22q13.3deletion, United States, April 3, 2019
Alexander was born with a rare, de novo, chromosomal deletion (22q13.3). With a healthy pregnancy it was a complete surprise when he was born with breathing difficulties and jaundice. He also had hypo...
Chloe, Avascular necrosis, United States, April 3, 2019
I am 20 years old and have had Avascular Necrosis of the right femoral hip head since I was 7 years old. I cannot remember much of when the doctor first diagnosed me but I do remember him saying I wou...
Suzanne, Cystic angiomatosis, United Kingdom, April 2, 2019
Hi Im 37 years old and my name is Suzanne. I was diagnosed with a rare condition called cystic angiomatosis 2 years ago. I see a specialist regularly and have regular scans. My symptoms seem to be ge...
Malias, Desbuquois dysplasia, Denmark, March 27, 2019
We have a little son diagnosed with desbuquois dysplasia. We would like to talk to someone with information or just experience. Please find me on facebook Camilla List or Instagram with the name morti...
Stephanie, Psoriatic arthritis,Crohn’s disease,fibromyalgia,hyperthyroidism,Graves disease, United States, March 25, 2019
Hello my name is Stephanie I’m an autoimmune disease fighter and i wanted to share my story because it’s been a journey for me to have multiple autoimmune diseases and take so many medication everyday...
Heidi, Von Hippel-Lindau syndrome, United States, March 12, 2019
Von Hippel-Lindau ("VHL") is a rare disease which affects a persons ability to supress tumor growth in certain areas of the body. The research for "VHL" may hold the cure to other types of tumor progr...
Christina, Misophonia, United States, March 9, 2019
Age: 19I have Misophonia.It wasn't until around my early teen years when I first realized that certain noises, such as chewing and breathing, were bothering me a lot more than everyone around me. Afte...
Bashan, Ledderhose disease, United States, March 7, 2019
I found out I had Ledderhose in 2011. Mine are primarily in my heels. I was told the only surgical option was to have the fascia removed from the bottom of my feet. Not an option. The other is wear we...
Jill, Christianson syndrome, Canada, March 5, 2019
My son that passed away October 2018 had what is called christianson syndrome is it rare enough that I could not find it on the list provided it is physical and mental development and lots of seizures...
serdar, Mowat-Wilson syndrome, Turkey, March 5, 2019
merhaba benim adım TUNÇ izmir Türkiye de yaşıyorum 7 yaşındayım 2012 yılında mws doğdum yürüyemiyorum konuşamıyorum desteksiz oturamıyorum. enbüyük desteği annem ve babam dan alıyorum müzik dinlemeye ...
Lakshmi, Relapsing polychondritis, United States, March 4, 2019
"Not Again," was my first thought when my doctor told me that my immune system is attacking me and causing the inflammation that is making both my ears red, swollen, tender (not to mention painful). H...
Selena, Wolman disease, United States, March 3, 2019
Our granddaughter Tyliah was diagnosed with Wolman Disease when she was 3 months old. We spent a lot of time at Vanderbilt Children’s Hospital. She started getting infusions of a drug called Kanuma. W...
Lora, Prader-Willi syndrome, United States, March 3, 2019
My daughter Sierra has surivived more in her life then most adults. From being born with Prader wills syndrome, to having diabetes, to having a massive stroke at 17 yrs old she is my hero during all t...
Naomi, Cystic Angiomatosis, United Kingdom, March 2, 2019
Hi,In September of last year I was incorrectly diagnosed with metastatic cancer with an unknown primary (aged 36). After multiple biopsies and a splenectomy I have now been diagnosed with Cystic Angio...
Dawnyell, Fibrosing mediastinitis, United States, March 1, 2019
I was recently diagnosed with this rare disorder a few weeks ago called Fibrosing Mediastinitis. Currently this condition is not curable and since it was left untreated, it has caused major complicati...
Juliana, ANE, Brazil, March 1, 2019
Gender: MaleAge: 6 yearsDiagnosis: SUSCEPTIBILITY TO ACUTE INFECTIOUS INDUCED ENCEPHALITIS 3.No. OMIM: 608033 mutation in the gene RANBP2 Presence in: Heterozygosis (one copy). He already suffered 3 ...
Nur, Mucopolysaccharidosis type 4A, Malaysia, March 1, 2019
I have been diagnosed with Mucopolysaccharidosis type 4A. Art is my life. After finishing secondary school, I went to music/keyboard class, then learnt Folk Art, and I am now continuing my love toward...
