• 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
  • 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
  • Diagnosing and treating gliomatosis cerebri

    What is a biopsy? A biopsy is an extraction of little samples of tissue that are to be checked under the microscope by pathologists . Tumors are biopsied in their origin, to assure that tumor cells
  • What causes Amyotrophic Lateral Sclerosis (ALS)?

    Amyotrophic lateral sclerosis: a patient’s journey «It was a sunny Sunday morning in the middle of September. Amy was playing in the local playground under the watchful eye of her parents, trying to
  • RareHacks: uniting experts to build the future of the rare disease community

    What is RareHacks? RareHacks is a hackathon event that brings you the opportunity to apply data science tools , including machine learning and natural language processing algorithms, to a real
  • The POWER-tool: a new effective method that helps involving patients in clinical trial design

    Research on rare diseases is often difficult to perform mainly because there are only a small number of cases to study, resulting in a vaguely representative statistical analysis of the data. For
  • Cancer therapies assessment indicators need to be reviewed according to a novel study

    A recent publication on JAMA Internal Medicine refutes any association between progression-free survival (PFS) and health-related quality of life ( HRQoL) in cancer patients. In other words, delaying