Mathéo suffers from adrenoleukodystrophy

Élodie, his mother, says

“Mathéo is only eight years old and has already had some real struggles in his life. No one could have predicted the trials he went through. In our family, nobody knew the word leukodystrophy. Neither did the doctors, who did not think of this rare genetic disease when faced with Mathéo’s frequent vomiting. Further investigations diagnose adrenal insufficiency. That’s where the adrenoleukodystrophy was detected.”

It’s time to try a gene therapy transplant.

“In addition to the prescribed treatment to balance the adrenals, he is monitored by a specialist team in Paris twice a year. In November 2020, an MRI scan revealed a small lesion in his brain. Mathéo has no symptoms yet, but this sign indicates that the disease is progressing. It has to be stopped at all costs, and no drug has yet been found to treat leukodystrophies.”

The only laboratory that masters the technique is leaving Europe.

“There is this innovative gene therapy transplant. A transplant is an extensive treatment. But we did not hesitate. We did all the necessary tests, and then, eight days before starting the transplant process, we received the bad news: the only laboratory in the world that masters the technique is leaving Europe for economic reasons, and Mathéo will not benefit from it. It’s a difficult pill to swallow, between disappointment and inconsolable tears. We were then offered a traditional transplant to inject Mathéo with cells from a compatible donor. We went for it. In October 2021, Mathéo was fighting well. When he was discharged from hospital eight weeks later, he gradually resumed his games, started riding his bike again, eating by himself, laughing, almost like before…”

The first transplant was a failure, there is hope with a second transplant, but the disease continues to progress…

“Unfortunately, in January 2022 the medical check-up was not good. We have to face the facts: the transplant did not work. A nightmare. No one gave up, however, and a new transplant was performed at the end of March 2022. But Mathéo is fragile, infections are attacking his heart, his kidneys and his liver. Our little boy is fighting, despite losing sight in one eye.

To protect himself from viruses, and even from the sun, which is incompatible with his medication, he has to stay at home. Visits are rare. We remain at his side thanks to the donations of days off by supportive colleagues. His everyday life is a bit varied. It involves watching films on the television and playing board games etc…The donor’s cells are still 97% present, the doctors would prefer 99%, so we are monitoring them. We are holding on thanks to Mathéo’s smiles and courage, and because we are well supported by our loved ones and the ELA (European Association against Leukodystrophies) association.”

An update on treatments

by Professor Jean-Hugues Dalle, a transplant physician at the Robert Debré paediatric hospital in Paris

A product of French research, gene therapy has been granted “marketing authorisation” in Europe and France in early 2021 and accelerated approval in the US in 2022. Unfortunately, the industrial licensee decided to leave Europe and deprive European children of this major therapeutic advance.