The rebellion of the leukocytes: Íngrid’s story
One day, in the summer of 2018, Íngrid felt an unusual pain in the elbow and she noticed it was swelling. The traumatologist concluded that it was due to a simple tendonitis probably caused by the
When the sun is your enemy: Pol’s story
When Pol was only two months old, the first sunburn appeared on his face. Shortly after, similar injuries began to show, major burns in those areas of his body that were not protected by clothing
A carer for family members with myotonic dystrophy talks about the challenges of diagnosis and living with this rare disease
Nicky is a carer for six family members across three generations who have a diagnosis of myotonic dystrophy. Like many families, they had been living with the wide range of symptoms associated with
A world of sensations: Bruna’s story
Bruna is 12 years old and is affected by an ultra-rare genetic syndrome that causes severe refractory epilepsy, cognitive and motor retardation — she is not able to speak or walk — and severe visual
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
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 on
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
What is it like to have a sibling with a rare disease?
Taking care of a loved one who is chronically ill, having a highly disabling pathology such as a rare disease, can be as rewarding as it is difficult and stressful. This kind of diseases entail for
Tips for preparing your summer holidays
Many families will have already started the summer break period. Occasionally, if you do not prepare on time everything you need for your trip, holidays can be more of a nightmare than a period of
Safe motherhood in rare disease
" Duchenne muscular dystrophy is a genetic disorder characterized by the progressive loss of muscle . Duchenne is caused by a mutation in the gene that encodes for dystrophin , a protein that is
Markel’s story: the uncertainty of living without a diagnosis
Markel lives with his parents, María and Vicen, and his older sister Carlota in Urnieta, a small town near San Sebastián, Basque Country (Spain). He will become 13 in August, but he looks much younger