85% of rare diseases do not have treatments that allow patients to be cured. To try to remedy this and guarantee better access to care and diagnostics, the Eurordis federation is organizing the 16th edition of the International Day of Rare Diseases on February 29.
In addition to researchers, certain patients and families of patients fight every day to advance medical research. This is for example the case of Karen, Sabrina and Claude, who agreed to share their story in the podcast “Dans les yeux d’Olivier” produced by Europe 1 Studio.
Change career to save your daughter
Karen Aiach’s daughter was only six months old when doctors discovered she had Sanfilippo disease. A rare genetic disease, which progressively destroys neurons, thus leading to a regression of all acquired skills: “There, the world is collapsing”, remembers the mother in this episode of the podcast “In the eyes of ‘Olivier”. According to health professionals, the child’s life expectancy is only a few years. : “We were told that there was no treatment, no research on the subject,” she regrets. To remedy this, little Ornella’s parents decided to abandon their professional career to launch themselves into the creation of a research laboratory. But the research is long and expensive. The more time passes, the more the little girl’s condition deteriorates: “She was out of control, we no longer had a life,” confides Karen. But five years later, thanks to the determination of her parents, the world’s first clinical trial was finally possible and it was carried out on the little girl’s brain. “It was a kind of rebirth,” recalls the mother. Although Ornella died on the eve of her fifteenth birthday, this medical advance subsequently advanced research into this disease. Today, the young mother is a pioneer in the neuroscience industry
A determination that heals
For his part, Claude also tries to advance science. Thanks to the experience of his illness, this former athlete now shares his experience with future caregivers: “I decided to get better,” he testifies. Claude suffers from Guillain Barré syndrome, a very rare autoimmune disease that destroys neurons and can be fatal. It generally occurs suddenly, after an ordinary viral infection and causes paralysis of the limbs as well as the face: “I was like someone being skinned alive, like someone with severe burns,” testifies this former athlete. The doctors then condemned him to never walk again. A long fight then begins for Claude: the man with a mind of steel does not want to back down from anything. After months of battle against the disease, enormous progress appeared against all expectations: “My little finger started to stand up,” he confides. Today, the man who was condemned to quadriplegia manages to walk with the help of a simple cane: “Another life begins,” he testifies full of optimism.
A couple’s fight for their child…
Little Louna suffers from a rare genetic disease called neurotic angioedema, in the same way as her mother, Sabrina. A pathology that causes swelling of tissues that can reach the respiratory tract. When the little girl had her first seizure only three months after her birth, she developed a significant hematoma on her face: “She is completely disfigured,” confides her mother. But the nursing staff, unaware of the illness at the time, suspected an episode of mistreatment: “They told us: ‘Those are blows'”. No blood tests are taken on the baby and very quickly, custody is taken away from the parents. A nightmare that will last three and a half years. The couple then decides to break the law to take their daughter for medical examinations. The diagnosis is made: Louna suffers from neurotic angioedema “in the most serious way”. The couple was thus the victim of a terrible medical and legal error. “These people took away what was dearest to us,” Sabrina laments.