It was the school that sounded the alarm. “Elias no longer sees what is written on the board”, explains his mother, Sandrine, sitting next to her 11-year-old son, who is bored under his blond hair. This sudden decline in vision is similar to that experienced by her eldest, Anaëlle, 13, who suffers from Stargardt disease, a rare genetic ophthalmic condition affecting the central region of the retina.
Originally from Val-d’Oise, the family (who wishes to testify anonymously) is worried about the youngest, aged 10. Does the same fate await him? “We live with an ax above our heads”, sighs Camille, the father, who is having trouble coping. The disease cannot be cured. The most severe cases result in loss of central vision, making reading and writing difficult.
This November 16, Sandrine, Camille and their three children huddle together in the consultation room of geneticist Stanislas Lyonnet, 65, director of the Imagine institute, on the campus of the Necker-Enfants Malades hospital ( AP-HP), in the 15th arrondissement of Paris. The exercise is delicate for this pediatrician, accompanied by a genetic counselor and a psychologist.
In a few minutes, he must access the privacy of a family and draw its family tree, looking for antecedents, if they exist, at the end of the most tortuous branches. In the case of this family, the pathology comes from the presence in the children of two variants of the ABCA4 gene, one transmitted by the father, the other by the mother. To verify, additional tests would need to be carried out. “No blood test!” “, Elias jumped. His father insists. They will come back.
Looking for a diagnosis, treatment
Every year, nearly thirty thousand families in search of a diagnosis, treatment or simply a bit of hope pass through the glass doors of the Imagine Institute. It is the first European center for research, care and teaching on genetic diseases – of which the French Association against Myopathies (AFM), which organizes its Telethon on December 8 and 9, is one of the founding members (with AP-HP, Inserm, Paris Cité University, the Hospital Foundation and the City of Paris), the temple of French genetics.
Its doctors are consulted like oracles by patients who come from far away, sometimes from abroad. Half come out with a diagnosis, but only 15% with appropriate treatment. For others, wandering can last a lifetime. A “odyssey” (odyssey diagnosis), say the Anglo-Saxons delicately.
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