“We must stop the inequalities in the treatment of patients with tuberous sclerosis of Bourneville”

Tribune. A few days ago, my son, Florentin [Damaisin], 27 years old, passed away following a rare genetic disease: Tuberous Sclerosis of Bourneville (TBS). This disease affects around eight thousand people in France, which is already a lot for a so-called “rare” disease.

Complex to diagnose and explain, it is the result of a dysfunction of the gene responsible for eliminating the small tumors that constantly appear in our body. Patients who suffer from it thus find themselves struggling with permanent lesions that affect all vital organs, in particular the skin, the brain – as a result, most patients have epilepsy – the heart, lungs, eyes and kidneys. No less than a dozen medical specialties are therefore called in to deal with it.

We discovered this disease in my son when he was 18 years old, but it is in fact innate and the families of the patients very often undergo, because of the entanglement of symptoms, long diagnostic wanderings before a name is finally put on. the evil that strikes their child.

Some women even learn it on the delivery table, when exertion reveals undetected kidney damage that causes heavy bleeding. In their misfortune, they also learn, in one out of two cases, that they have transmitted this gene to their child, and that, since it is dominant, their child will be the carrier of the disease.

Symptom disparity

To put it mildly, as in many rare diseases, the manifestations of TSC vary a lot from person to person. In some, it will appear as skin lesions only, while in others, it will cause up to fifteen epileptic seizures per day, kidney and / or heart defects, etc.

This disparity of symptoms explains all the difficulty in giving visibility to this terrible disease. Administrations and health personnel ignore it and are rarely trained to treat it.

Today, in France, only one association campaigns for the recognition and research in favor of this disease:French Tuberous Sclerosis Association of Bourneville (ASTB). It is the only concrete recourse for parents who enter the vortex of this disease and its multiple associated disabilities.

Like all other rare diseases, the STB has benefited from “Rare disease plans”, implemented since 2005. These plans have led to the creation of reference centers for each disease. These plans and centers have provided tremendous hope for families and patients. Unfortunately, for several years, the center for TBS has produced few concrete results in favor of patients.

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