A family story, a treatment in Italy
The Hooge family in northern France thought they’d be happy with their three children. Fate, or rather a mutated gene, decided otherwise. Their second child Nathanaël has developmental problems. After an initial MRI scan and a rapid deterioration in his health, the diagnosis was made: metachromatic leukodystrophy (MLD), but it was already too late to consider treatment. Immediately, the other two boys in the siblings were tested: one was not a carrier. The other, Augustin, is ill. So began a race against time that took them to Milan, to the San Raffaele hospital, where Dr Francesca Fumagalli’s department is dedicated to MLD. Augustin, who was less than a year old, was welcomed there among children from all over the world who had come with the same hope. In February 2018, the gene therapy treatment is implemented. It is both rapid (over 3 months) and cumbersome: marrow collection, laboratory treatment, chemotherapy and intravenous reinjection.
“A little French boy treated in Italy, thanks to Europe’s most innovative research into his disease… It’s fantastic!”
Doctor Francesca Fumagalli heads the pediatric unit dedicated to MLD at Milan’s San Raffaele Hospital. Her international reputation is based on a large multidisciplinary team and over 25 years of fundamental research. “Gene therapy clinical trials began here in 2010. A first wave of around twenty very young children, suffering from early-onset MLD and with no apparent symptoms of the disease, were treated. A second protocol was launched in 2018 with nine other patients, including Augustin.” In early 2021, a new milestone was reached: the efficacy of the treatment was recognized and validated for Europe. Although expensive, the Libmeldy drug is now accessible to European children after years of research. Such a treatment will ease the burden that a disease such as MLD represents for families.
How is Augustin today?
Augustin is 6 years old and leads an almost normal life, despite muscular weaknesses. He attends kindergarten and is accompanied by a full-time educational assistant. For one hour a day during class, a “verticalizer” keeps his trunk and legs in the same axis.
Soccer and pony trekking are regularly on the agenda. And when he’s tired, Augustin uses his wheelchair, happily pushed by his brother Louis.
Every year, he spends 5 days in Milan for medical check-ups: blood tests, physiotherapy tests and a neurological check-up.
