• Report - 3rd day of the International Congress on the Effects of COVID-19 in People with Rare Diseases

    The challenge of undiagnosed patients: challenges and needs Dr. Marcelo Andrade opened the first table of the third day of the congress. This paediatrician at the Sant Joan de Déu Hospital explained
  • Smart Tech: Improving the lives of millions living with a long-term disease

    Chronic diseases present a significant challenge to the European Union, costing over €700 billion annually and affecting one third of all adults. Furthermore, each year over 4 million people pass away
  • FEDER Rare Disease Information and Orientation Service (SIO): building bridges to improve the lives of the patients

    For two decades, the Spanish Federation of Rare Diseases (FEDER) has been giving voice to more than 3 million people who live with a rare pathology in Spain. At the present time, the association
  • 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
  • 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
  • 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
  • Àngels 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 they
  • Tips for taking care of young caregivers. Let’s help those who help.

    Young and adult caregivers’ emotional and physical health are usually highly affected: anxiety, depression or feelings of isolation, lack of physical activity, unhealthy eating habits, etc. In this
  • What is life like for kids with rare genetic conditions?

    Studies have shown that chronic and rare disease may affect the psycho-social well being of children and also their families. The physical symptoms can be very difficult to handle for a child in early
  • How to tell your child about his/her rare disease

    Rare chronic diseases are common enough, affecting 6-10% of the population and have a great negative psychological and physical effect on patients and their families. Men, women but also children may
  • 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