Every week in France, between three and six children are born with a leukodystrophy. Behind these figures lie stories marked by a struggle to find the right medical care, delayed diagnoses and shattered lives.
“Newborn screening would have saved Hugo”
On 24 December 2021, Amélie and Florian’s lives were turned upside down. Their son Hugo, aged 8 – a bright and happy child – was diagnosed with adrenoleukodystrophy (ALD). Within a few months, he lost his sight, then his ability to walk, and finally his autonomy. Now, aged 12, Hugo is bedridden and fed via a feeding tube. He sometimes smiles when the wind brushes against his face.
Genetic tests then revealed that Arthur, his 4-year-old little brother, was also affected. But this time, the disease was detected before any damage had been done. Without hesitation, the family opted for a bone marrow transplant. Six weeks in a sterile room, six months of constant vigilance. In January 2026, an MRI scan confirmed that the transplant had been successful. Arthur was saved!
Two brothers, two opposite fates, separated by a few years and a diagnosis that came too late.
How many children like Hugo are still likely to develop leukodystrophy, when a simple newborn screening test could have saved him by preventing the onset of symptoms?
“The test exists! It could be incorporated into the tests already carried out at birth. In the Netherlands, this is already a reality,” says Amélie.
“So many lives turned upside down could be spared.”
ELA is working alongside families to ensure that newborn screening for ALD is introduced in France. Guy Alba, its founder, put it clearly and poignantly in an opinion piece in Le Monde: “Every day gained before symptoms appear changes a child’s fate.”
Stronger together against leukodystrophies
ELA also supports medical research at an international level, notably alongside Professor Stephan Kemp (Netherlands), with whom it has been collaborating for 20 years:
“ELA is a key partner in our research into the development of newborn screening, as well as in understanding the metabolic mechanisms involved in ALD to help develop treatments. Beyond financial support, ELA builds links between scientists, clinicians and families, ensuring that research remains focused on what matters most: the patients and their families who live with this condition everyday.”
Patients with leukodystrophy suffer a double injustice: that of the disease itself, but also that of the lack of, or delay in, treatment that could change the course of their lives. So please make your donation to ELA today. It will enable us to fund research into developing new treatments and screening tests for leukodystrophies for which none are yet available.