2023-07-12 11:17:20
Suffering from a disease that limits his physical abilities, Maxime, 11, has benefited since 2019 from treatment usually reserved for certain leukaemias. This drug did not lead to a cure, but it changed the boy’s life and revolutionized a part of medicine.
Since this new treatment, Maxime has come back to life. This 11-year-old boy from the Mulhouse region, in the Haut-Rhin, has had a genetic anomaly since birth which causes the secretion of a “harmful substance” throughout his body, his parents explain to Parisian. This substance delayed his cognitive development and for a long time restricted many of his physical abilities. As a result, for years, Maxime was riddled with severe pain on a daily basis.
But in 2019, doctors at the Gustave-Roussy Institute of Oncology in Villejuif, Val-de-Marne, offered the little boy’s family a treatment usually reserved for only adults suffering from certain cancers. The child’s condition has since improved significantly.
“It changed everything”
Faced with the failure of all other treatments, the specialists wanted to “try” to administer Maxime a daily tablet of enasidenib, a drug used for acute leukemia caused by an “abnormality of the IDH2 gene” in adults, explains Birgit Geoerger, pediatric oncologist in this world-renowned hospital.
This anomaly is also the source of Maxime’s metabolic syndrome, D-2 hydroxyglutaric aciduria, simplified to D-2-HGA. The doctors therefore thought that even if the evil did not take the same form in Maxime, its source might be targeted in the same way.
“Overnight, it changed everything,” says Samantha, Maxime’s mother.
Maxime’s severe constipation has disappeared and the severe heart pain that threatened his life has diminished. He also gained four kilos and muscle, going from a frozen child whose state was a constant source of anxiety for his parents to an active boy. He is not cured, however: he still suffers from severe scoliosis, only masters a small range of words and cannot perform actions on his own.
Medical revolution
Maxime is the first child in the world to receive enasidenib treatment to treat D-2-HGA. The very promising results that have been observed have been the subject of a study recently published in the prestigious scientific journal Nature Science.
“Until then, I thought there were a few dozen cases in the world, but since the publication, I have been receiving emails from families and doctors from all over the world, Greece, Spain, New Zealand, Israel…”, shared with Parisian Birgit Geoerger.
An 8-year-old Swedish woman suffering from the same syndrome showed significant signs of improvement following starting her treatment with enasidenib in 2021. A 6-month-old Norwegian woman is soon to be treated in the same way in Villejuif.
On the scale of the evolution of the disease, the start of treatment for Maxime, following “7 years as immured”, in the words of his father Stéphane, was already too late to hope to cancel the symptoms. For Birgit Geoerger, with earlier treatment, “we have real hope”.
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