A nine-year-old girl is experiencing a remarkable turnaround in her health thanks to a recently approved medication for a rare liver disease. The treatment is significantly reducing her symptoms and improving her overall well-being, offering hope for a better future.
Mélody is being treated at CHU Sainte-Justine in Montreal for a rare condition affecting her liver and causing intense itching. “I scratch until I bleed,” she told Noovo Info.
Mélody’s condition is progressive familial intrahepatic cholestasis, a genetic disorder that impairs the flow of bile from the liver. This buildup of bile leads to a range of symptoms, including severe itching and jaundice.
Dr. Marie-Ève Chartier, Mélody’s pediatric hepatologist, explained that the transport mechanisms in her liver responsible for bile flow are not functioning correctly. This causes bile to accumulate, leading to symptoms like itching and jaundice. “Mélody was jaundiced at birth,” Dr. Chartier noted.
This rare disease affects approximately one in 50,000 to one in 100,000 people, meaning research is limited. This highlights the challenges in developing treatments for rare conditions.
However, after four months on the new medication – recently approved by Health Canada – Mélody’s condition has significantly improved. The treatment is reducing her itching and improving her sleep, as she had never been able to sleep through the night before.
“We’re already seeing that her skin has no more lesions and she’s sleeping much better,” said Dr. Chartier. Mélody herself reports that she “almost doesn’t” have any more sores.
Typically, children with progressive familial intrahepatic cholestasis require a liver transplant before adulthood. However, CHU Sainte-Justine hopes the new medication will help Mélody avoid transplantation.
“This gives a lot, a lot, a lot of hope. And it’s essential to emphasize the importance of research,” said Mélody’s mother, Providence Loranger.
Mélody is currently receiving the medication on a compassionate-use basis, but it is expected to be covered by the RAMQ (Quebec’s public health insurance plan) in the coming months.
See the report by Véronique Dubé in the video.
