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 — among
The 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.
Share4Rare 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 S4R
How 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 disease ,
A 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 hospital.
Share4Rare 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 happen
Share4Rare. 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 or
The 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 and
Sheonad Macfarlane, mum of a girl with SMA: “Over time, you become an expert on your child’s condition”
“ Eilidh was a perfect little baby. She reached her milestones on time until she started - then promptly stopped – crawling. Eilidh wasn’t moving like other 10-month-old babies : she now hated being
«The role of Pediatric Palliative Care Units is key to give visibility to siblings of sick children inside the family»
S4R: What does it mean to receive palliative care? Which kind of attention do these children receive? PPCU: Pediatric palliative care is defined by the WHO as the active and total assistance of the
We 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 diseases,
Effects 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 York