“I lost my husband, then my son,” how this hereditary and incurable disease disrupts entire families

In France, 18,000 people are affected by this hereditary disease. A loss of neurons in the brain causes involuntary movements and hampers the lives of patients, even causing their death.

Huntington. This disease, of which the general public knows little, has been present for four generations in the family of Marie-Annick Bourrelier, residing in Côte-d’Or. “My stepfather died of Huntington’s, then my husband in 1989, my son in 2016. They were 37”, confides this Burgundian who agrees to testify. His 41-year-old daughter was also affected. “I help her a lot on a daily basis, she has lost her autonomy”summarizes Marie-Annick.

The disease usually begins between the ages of 30 and 50. She bears the name of Georges Huntington, general practitioner in 1872 who first described the disease. “It manifests itself with motor, cognitive and psychiatric disorders that progressively evolve until the patient becomes bedridden and intellectually deteriorates. The most visible symptom, but not the most debilitating, is chorea. It manifests itself with sudden, unpredictable and involuntary movements that gradually spread to all muscles. Even the cognitive functions of patients gradually decline, up to the stage of dementia”, explains Dr. Silviu Stanscecu, neurologist and head of department at the Trévenans hospital center near Belfort. Some patients will assume abnormal postures due to involuntary contraction of their muscles, others will have very slow movements.

Sylvie Castella is also familiar with this disease. You touched one of her relatives. Since then, La Bourguignonne has been committed to helping the sick and their families. She animates the Huntington Espoir Grand-Est Association in Burgundy-Franche-Comté. “In Talant, near Dijon, where I am, there are 12,000 inhabitants, 7 families are affected by Huntington’s”tell us.

Huntington’s disease (HD), “it was called before Saint Guy’s ball. The patients shake, like someone who has been drinking, the upper body has disordered movements, it is terrible like a disease.

Sylvie Castella, Huntington Grand-Est association

6,000 people are affected in France. 12,000 people are carriers of the genetic mutation without having any second symptoms Data entered. Others don’t know if they are carriers. Because, if the disease is hereditary, not all people want to be screened for the HD gene.

Being “Huntington” means being sick and seeing one’s living conditions deteriorate to the point of death. “There is not necessarily transmission, but a 50% risk of having Huntington’s. In one sibling we have people who are affected and others who are not.

“Some prefer not to know and enjoy life”, observes Sylvie Castella. Marie-Annick Bourrelier’s daughter, who grew up in a Huntington family, wanted to take this test to go on despite everything and build her life.

Currently, no medicine cures Huntington. “Fifty clinical trials are being conducted around the world to improve patient care”observes the doctor Silviu Stanescu.

“Earlier, the doctor said to a Huntington’s patient, I can’t do anything. We now have support that reduces inconvenience”, specifies the head of the Huntington Espoir Grand association. Henri Mondor Hospital in Créteil is a Huntington’s disease referral center. In France, 14 hospitals have units specialized in this disease, notably in Strasbourg, Nantes, Montpellier, Lyon, etc.

“Pharmacological treatments can relieve patients: antidepressants, mood stabilizers, anxiolytics, sleeping pills, neuroleptics, antipsychotics, dopamine stabilizers, neuroleptics. Physical rehabilitation (physiotherapy, occupational therapy, psychomotor skills) and speech therapy help limit posture and balance problems, as well as speech or swallowing disorders”completes Dr. Stancescu.

“Accompanying measures in daily life are essential to respond to the loss of autonomy: professional reclassification, especially for professions that endanger the patient or third parties, then housing subsidies and their financing, respite stays (to breathe the caregivers), orientation towards another place of life, planning of the patient’s activities, technical aids…”, adds the doctor in the face of these patients and the caregivers’ difficulty in supporting them. Respite admissions are possible, particularly in hospitals, so that families can breathe.

Today it is possible to be a parent even if you are a carrier of Huntington’s disease. This is the choice of the daughter of Marie-Annick Bourrelier, mother of a 7-year-old boy. “At the end of the third month of pregnancy, a sample was taken from the future baby’s cord. Until the result. It’s a hopeful note of course, but it’s very difficult to live with these pregnancies.”recalls Marie-Annick Bourrelier.

Specialized centers monitor these very specific pregnancies. A prenatal diagnosis by amniocentesis allows to know if the child is a Huntington’s carrier. In this case, an abortion is possible. Another method, preimplantation genetic diagnosis (PGD). It allows the detection of a genetic anomaly before implantation of the embryo obtained by in vitro fertilization (IVF). At the end of this analysis, only healthy embryos or healthy carriers are transferred to the future mother’s uterus.

Don’t be alone. Sylvia Castella who accompanies the families is aware that this disease is always scary. Little is said about it. “But things are moving forward. We work with CHUs, doctors. We are no longer rejected. When you know you are affected, you shouldn’t hesitate to approach genetic centers that offer assistance to the sick. Take a test, the process is quite long with complete care, very surrounded by psychologists, this allows you to be able to accept the diagnosis “.

The associations also offer help to families who have suffered a lot from this rare disease, which is still one of the incurable diseases in the world. “In our family we have seen the years go by, without any prospect of treatment, we hoped, ten years ago, to be able to stop all this”, to regret Marie Annick Bourrelier, who will continue to surround her sick daughter and her loved ones despite the mourning.

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