Looking for patients with 6q25 deletion syndrome: Mia Regina's story
Mia Regina is a 6-year-old girl born in Mexico DF with a rare genetic pathology: the 6q25 deletion syndrome. This syndrome was described approximately a decade ago and is characterized by — amongThe research project for paediatric gliomatosis cerebri is already here!
Some time ago we met Mónica, Izas's mum and president of the Spanish association of gliomatosis cerebri "Izas, la princesa guisante". Her story is an example of courage, struggle and dedication. ThisShare4Rare Pilot for Rare Neuromuscular Diseases
We are pleased to announce that we will soon be ready to start the research projects on the S4R platform. The ‘My Studies’ area will provide an opportunity for researchers to submit surveys to the S4RHow do you comfort a child with a rare disease?
Psychologically speaking, the relief from a chronic pain is more than necessary in order to help the patient carry on with this very difficult condition. In regards with a child with a rare diseaseA disease with no name: Edu’s story
Sandra is Edu's mom, a 5-year-old boy who suffers from a rare disease. When Edu was born he could not open his eyelids, but doctors did not find that a reason for not discharging him from hospitalShare4Rare principles for co-creation with patients
The clue is in the title. Patient engagement (PE) cannot happen without patients, and so it is clear that any materials, initiatives, or projects linked to patient engagement can also not happenShare4Rare. A platform as strong as its users
As you might already know, Share4Rare is a safe space where patients and carers can connect, share knowledge, and get involved in scientific research. It is a place where geographical, physical orThe conceptualization of the Share4Rare brand
A few months after arriving at Òmada, general director Inma Chapí presented us a new project that we were going to address from the very beginning: an exchange platform for rare disease patients andWe are looking for Share4Rare ambassadors!
Adult rare disease patients and their family members become experts in finding medical information, supporting research initiatives and leading patient organizations. For the most ultra-rare diseasesEffects on parents when a child has a rare disease
In October 2011, author Emily Rapp wrote an outstanding essay on life as a rare disease parent and her experience of raising her son, Ronan, under the shadow of Tay Sachs disease for the New YorkÀngels Ponce: «It never ceases to amaze me how children actually see illness and disability as natural things»
S4R: It is difficult to know that a child is having a hard time if he/she does not express it. Often, the siblings of sick children prefer not to bother their parents with their problems if theyTREAT-NMD / EURO-NMD Neuromuscular Translational Summer Schools: showing all the dimensions of neuromuscular diseases
The first Neuromuscular Translational Summer School took place in July 2018 in Newcastle upon Tyne, UK. The Summer School was the result of a collaborative effort between TREAT-NMD and EURO-NMD to