Tyrone, Undiagnosed, United States, February 11, 2019
I have been living with a fecal odor for over 10 years now. I have tried everything to fight against the odor to no avail. I'm constantly harassed, teased by people and it hurts so deeply. There is no...
frankie, Alopecia, United Kingdom, February 11, 2019
Alopecia is something that I did not expect to get in my life. It is a condition that I knew others had, but as with any illness, we just don’t ever see ourselves contracting it. I was in a state of s...
Lisa smith, champ1 mutation, United States, February 11, 2019
My beautiful daughter Breanna is 20 years old in March and functions around the age of a 4 year old. She loves people and is very social but there are alot of times severe behaviors get in her way..We...
Jenny, Intrahepatic cholestasis of pregnancy, United States, February 11, 2019
This is my journey with cholestasis. To begin my story, I would like to give the background of my already high-risk pregnancy. My husband and I were married in January of 2017. We were both single par...
Abel Markham, X-linked retinoschisis, United States, February 10, 2019
In Decemeber 2017 my son Abel was diagonsed with x-linked retionschisis at the age of 4. Having no idea what this disease was and no idea how I became a carrier I broke down. We later found out that m...
Esteban, Hemophilia A, Mexico, February 9, 2019
Al principio puede ser difícil enterarte que tu hijo padece una enfermedad que ni siquiera conoces, pero hay que tener paciencia y confianza en que la ciencia sigue avanzando. Son los consejos que nos...
Ana Sofía, Trichothiodystrophy, Mexico, February 9, 2019
Cuando la intuición de madre te dice que algo no va bien, no te cierres, investiga y pide ayuda. Eso es lo que nos invita a hacer Ana Salido, la mamá de una pequeña con tricotiodistrofia, que paciente...
Diego, Progressive myoclonic epilepsy, Mexico, February 9, 2019
Una vez determinado el padecimiento de Diego ha sido más fácil determinar cómo tratarlo. ¡Queremos que así sea con todas las enfermedades raras! #ShowYourRare#DíaDeLasEnfermedadesRaras
Diego, Progressive myoclonic epilepsy, Mexico, February 9, 2019
Conoce cómo fue el proceso que vivió Diego y su familia para descubrir su diagnóstico. Un camino largo pero no imposible.
José Alán, GNB1, Mexico, February 9, 2019
After the diagnosis Jose Alan and his mom faced new challenges. They are an example of perseverance. Know their story!
José Alan, GNB1, Mexico, February 9, 2019
Thanks to an online community, Paola found parents of other children with the same condition of her son. They helped her to get through this situation with serenity and faith.
José Alán, GNB1, Mexico, February 9, 2019
Meet José Alán, a little boy who joins the Rare Disease Day to raise awareness about these diseases.
Ivanna, Pelizaeus-Merzbacher-like, Mexico, February 9, 2019
Meet Ivanna, a little girl who has been diagnosted with a rare disease called Pelizaeus Merzbacher-Like. Ivanna and her mom want to share their story to help all the people who are going through the s...
Carlos Blanch, Congenital myasthenic syndrome, Peru, February 9, 2019
Hola, tengo sindrome de miastenia congenita. Actualmente tengo 43 años, me diagnosticaron simplemente miastenia a los 6 años, pero a los 32 me dieron mi diagnostico completo. Esto no ha impedido que h...
Sarah, Congenital sucrase - Iiomaltase deficiency, United Kingdom, February 8, 2019
This is Millie, this is our story.This little girl is 3 and has been very poorly since she was born. She has just been diagnosed with a rare disease called CSID (Congenital sucrase-isomaltase deficien...
Rebecca, Myoclonus-dystonia syndrome, United Kingdom, February 8, 2019
Hi I’m Rebecca and I’m 21 years old. When I was diagnosed with dystonia I thought it would make my life better. But the truth was that it only made it seem more real. The words no cure hurt a lot at t...
Irina, Mucopolysaccharidosis typeI., Russian Federation, February 7, 2019
My marvelous son Arseniy. He is 10 years old now. Diagnosed at the age of 9 months. Began our treatment at the age of 3.We paint our faces with the Rare Disease Day logo colours to show our support fo...
Brittney, Ehlers Danlos, vascular type, United States, February 7, 2019
I suffer from vascular Ehlers Danlos syndrome and idiopathic intracranial hypertension 2 rare issues that are a daily struggle. One will in time take my vision , and one day by day is literally damag...
myriam, VLCAD deficiency, Argentina, February 7, 2019
Hola soy de Tucuman Argentina mi hija tiene 6 años y hace 2 años y medio le detectaron vlcad somos 6 casos en la Argentina.... se le despertó tarde su enfermedad es la única de todos los niños que con...
Emmanuel, Malignant migrating partial epilepsy of infancy, United States, February 6, 2019
I was born during the August 21st, 2017 Great Solar Eclipse that traveled across the USA. My uncle nick named me BabyBane because of Bane in the movie The Dark Knight Rises. During the sewer fight Ban...
