• How online education can help children with rare diseases

    The number of European Union citizens living with rare diseases is estimated to be around 30 million, according to Eurordis Rare Diseases Europe. In fact, 1 in 17 people will be affected by a rare
  • Natalí Dafne Flexer Foundation: helping children with cancer in Argentina for 25 years

    Natalí developed cancer and died one year and three months after starting treatment, in July 1995. In her memory, her mother Edith created the Natalí Dafne Flexer Foundation (FNDF) to help children
  • Aleksandra talks about her experience of caring for her children with rare neuromuscular diseases

    Aleksandra has two children affected by a rare neuromuscular disease. Her son has a diagnosis of limb-girdle muscular dystrophy type 2D (LGMD2D) and her daughter has a diagnosis of collagen VI
  • Coronavirus and rare diseases — How can we reduce transmission and cope with a rare disease during these days?

    The new coronavirus outbreak is affecting people all across the planet, but there are communities who are especially vulnerable to this situation. We have learned that people over 60 — and this is
  • 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