It hits entire swaths of families and repeats itself from generation to generation, mowing down one, sparing the other. Like a curse. “Huntington’s disease killed my mother at the age of 43”, testifies Alice, who inherited it. The young woman knew early on that she too could be affected, but she continued to live despite everything, became a mother.
The ax finally fell two years ago, after a series of falls and the appearance of behavioral disorders, typical of this neurological condition which affects approximately one in 10,000 people and for which it does not exist, to date , real treatment.
At 9 and 10 years old, Alice’s two children are 50% more likely to develop the disease. His sister, however, escaped, as revealed to him by a predictive test. Detection made possible by the identification, in 1993, of the mutated gene causing the disease.
Alice’s children will have to wait until they reach the age of majority. At least if they want to. What will they choose? Will they want to know, by exposing themselves to possibly feeling condemned? Or will they give up knowing the truth, even if it means depriving themselves of the possibility of immense relief? This is the option that the majority of people at risk choose. “Only 20% of them take the test”, says Doctor Alexandra Durr, geneticist at Pitié-Salpêtrière, in Paris.
A thoughtful approach
In any case, the decision is fraught with consequences, warns the Huntington France Association : “This process must be carefully considered by the applicant” candidate “because the announcement of the result, positive or negative, will depend on his future life. “
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“It’s a very personal choice and an extremely hard one to make,” confirms Amandine, who was confronted with it. For a long time, his mother, whose father had the disease, did not want to know. “She said it wouldn’t change anything. But seeing symptoms appear in her, my father and I pushed her to take the test, so that she could be followed. ” Unfortunately, they were right.
For Amandine, it’s impossible to remain in uncertainty any longer. “I couldn’t see myself living with this sword of Damocles above my head”, she says. Result: she does not carry the gene. “But imagine that you are told that you have it, you have to be able to assume, dream she, manage to live knowing that within fifteen or twenty years you will be sick and dependent on others … “
“No absolute truth”
“A test does not deliver absolute truth or certainty, nuance however Alexandra Durr. We are not oracles capable of telling how and when a person will die. ” A specialist in Huntington’s chorea, Dr. Durr regularly receives at-risk individuals who question the advisability of taking the test. Supported by a team of psychologists, she answers all their questions. Some confirm their choice to take the test, others change their mind or prefer to wait.
Sandrine, she has long backed away. Not out of fear of the diagnosis, but because she was convinced she was a carrier of the gene. “For me, it was written, She says. Whenever I bumped into a table, at the slightest stumble in the street, I said to myself: “This is it, the disease is there”. ”
His family paid a heavy price in Huntington. His father died at 50, after being interned in a mental hospital, like his mother before him – the disease had plunged them into dementia. One of his brothers, showing the first signs of affection, has died. His other brother died before he could celebrate his 40th birthday.
A disease sometimes hidden for generations
For years, the siblings have observed each other, tracking the signs, without ever really broaching the subject. At the dawn of her 30 years, when her brother has just been diagnosed, Sandrine, now “Obsessed day and night”, tired of living “Without project”, make an appointment with Alexandra Durr to take the test. And discovers, incredulous, that she doesn’t have the faulty gene.
It’s the end of abyssal anguish, but also and above all of the disease, which no one suffers in his family. “My older sister doesn’t have it either. As for my brothers, they left before having children. The disease died with them, she says. The curse has ended. “
In some families, the pathology remains taboo. Minimized, never clearly named, even hidden for generations. According to a study by the Institute of the Brain and Spinal Cord (ICM), “48% of family members affected by Huntington’s disease (are) informed of their risk of being affected. ” In other words, more than half are not.
Know the disease to better accept it
“Many people learn very late that Huntington’s chorea is present in their ancestors”, Sandrine, who runs a Facebook group for the sick and their loved ones, also notes after having chaired the Huntington Hope Association in Normandy.
There are various reasons for this silence: denial, shame sometimes, and very often, the will to protect one’s own, “Do not expose them”says Alexandra Durr. However, she assures that knowing the disease makes it easier to accept it.
“The presence of the gene is often more difficult to announce to people who have never heard of this pathology because they do not know what we are talking about”, she explains. While for others, those who grew up with a loved one, “It’s part of family history.” They sort of prepared for it.
That’s why, according to the doctor, “The majority of people don’t see the need to take the test. Even if the reasons are unique for each person. “