Rare disease: a Luxembourg baby needs gene therapy

“From birth in November 2024, Timo was sleeping enormously in comparison with his older brother, and he almost never cried,” said Paul Hirtz and his wife Jing. His behavior worried us more and more and we constantly ask ourselves the question of the normality of this behavior. ”

At the age of two months, Timo demonstrated signs of epilepsy, the diagnosis of which was confirmed during his first two hospitalizations in January, the first at the Kannerklinik and the second in Brussels, continue the inhabitants of Helmsange (commune of Walferdange). After a month of waiting for the results of genetic analyzes, the diagnosis fell: Timo is suffering from Woree’s disease (Wwox-Related Epileptic Encepthy).

Woree is an extremely rare and devastating genetic disease that affects around 100 children in the world. It is caused by a recessive mutation of the WWOX gene, making it ineffective. The WWOX gene produces an essential enzyme for the normal development of the central nervous system and the proper functioning of neurons. Thus, Woree disease leads to deep global development delays, severe cognitive disability, epilepsy and average life expectancy of only four years.

“Today, at 8 months, although its epilepsy is under control thanks to drugs and a specific diet, its development delays are manifested more and more,” explain Timo and Jing, both 36 years old. He does not move much, he has very little control of the neck and head and, apart from a few occasional crying, he is completely non-guy-and he will probably remain so. ”

But the parents did not give up. They thus found a biotechnology company abroad capable of developing gene therapy (therapeutic approach which consists in introducing genetic material into a patient’s cells to treat a disease) “tailor -made” for Timo. “This innovative treatment, designed specifically for him (development from A to Z), represents our only chance of offering Timo a future,” explains the couple. The cost of this treatment is estimated at around 500,000 euros. Time is a critical factor. The earlier Timo will be able to receive this treatment, the best will be its chances in a future ”.

Contacted, Daniel Theisen, director of the Alan Alan Rare Diseases, confirms that this enormous sum corresponds to the order of magnitude for genetic therapies. “For pharmaceutical companies, there is no economic viability for this kind of treatment,” explains Daniel Theisen, who has already met the family, towards whom he expresses his “big compassion”. The ASBL also offers them free psychosocial follow -up.

Paul and Jing launched last February a crowdfunding campaign via a dedicated site, in order to be able to pay the treatment. They have currently collected 82,000 euros. The Ministry of Health estimates that 30,000 people (5% of the population) have rare diseases in Luxembourg. “There is only a curative treatment for 5% of the 6,000 rare diseases listed,” adds Daniel Theisen.