How many black people live in Huntington's disease

The magazine - No. 60

Jakob * cannot be stopped. After school, the 16-year-old drives to the park to play football, his fingers are constantly tapping on his smartphone, later the boy with the delicate face and straw-blonde hair sweeps the country roads on his black scooter. He prefers to invite his friends over to his home in a small town near Cologne on the weekend. "Then we gamble on the console until late at night or camp by the stream nearby."

What most of Jacob's friends do not know, however, is that his life will not be so carefree for much longer. In a few years he will have to fight his own body. And he will probably lose it. Because Jacob has an inheritance that he cannot refuse before any probate court in the world. This is not about debt or a mortgage-backed house. It's about Huntington's disease, a nervous disease.

Such a disease weighs like a curse on the person concerned until it breaks out

An accident, a serious injury, cancer: many people suffer a stroke of fate in the course of their lives. But a disease like Huntington's disease, which is established from birth, weighs like a curse on the person affected until it breaks out. According to the German Huntington's Disease, around 10,000 people in this country are affected by the disease. Those who get it gradually lose control over their movements, their behavior, their language.

Guilt is a genetic defect on chromosome 4. The nerve cells die, the brain atrophies, and 15 to 20 years after the onset of the disease, the patient inevitably dies. If one parent is affected, the chances are 50 to 50 that the child will inherit the genetic defect. A test can provide certainty in the event of a suspicion. But it is a terrible certainty when it comes out positive.

When Jakob looks at his mother Bettina *, he also takes a look into his own future. She has Huntington's disease. Bettina, 38, gray hair, has trouble speaking clearly, her tongue is in her way. A lot of things are difficult for her, even long walks are no longer possible. A few years ago it only took her half an hour to get to the city. “It now takes an hour,” she says. There is a rollator in front of the door of her first floor apartment, without which she can no longer make it to the nearby supermarket. “Sometimes I have to support it because it suddenly starts to sway,” says Jakob. He now writes the shopping list and the apologies for school himself because his mother can no longer keep her hand steady while writing.

“I already know which home I'm going to. But I still have a few years "

HD affects most people between the ages of 30 and 50. Bettina started around 30. At first her legs and hands twitched involuntarily, her memory decreased more and more, she got episodes of depression - whether as part of the illness or the result of the diagnosis, the doctors do not know. Everyday things like dressing and cooking became more and more difficult for her, and she had to give up her job as a cleaning lady. At some point she will no longer be able to swallow properly, and many of those affected suffocate while eating. Bettina will need all-round care. “I already know which home I'm going to,” she says. "But I still have a few more years."

Her parents and grandparents did not have such an open approach to the disease. “Nobody in my family wanted to deal with that,” says Bettina. Although the grandmother already had Huntington's disease, her father didn't want to bother with it - until he was diagnosed himself in his late 40s. From that moment on, Bettina knew that she too could be affected and was tested. "Positive. That was a shock, "she says," I already had two children back then. "Jakob was six years old, his sister seven, she was already going to school. Bettina made a decision: Your children should know from the start what risk they are exposed to. Because in extremely rare cases, Huntington's disease breaks out in childhood. The impetus for Jakob's genetic test was a tic. The boy was placed in a home last year because his mother was too busy with her illness during that time. Jakob has hardly any contact with his father, and his parents separated when he was little. In the facility, Jacob's supervisors noticed that the boy always jerked his head over his shoulder; the carers knew about the mother's illness and interpreted this as a possible first sign. The pediatrician then sent a blood sample to the laboratory, and the family had to wait six weeks for the result. “It was a strange time,” says Jakob, “I wanted to know how my life would go on.” Then the result: positive. First silence, then tears.

Initially a false alarm, but the genetic test can no longer be reversed

Apparently, Jakob's disease has not yet broken out. The head twitch was probably the result of psychological stress, suspects his psychologist. A false alarm, but the genetic test can no longer be reversed. He divides Jacob's life into a before and an after. He knows he will get Huntington's disease like his mother, maybe in 15, maybe in 30 years. Every time he chokes or forgets something, he wonders if this could be the beginning of the end.

“I can do it, I'm still young. And if it breaks out, I don't care "

A good six months after the diagnosis, Jakob is surprisingly unimpressed today. He doesn't want to think about his illness all the time. “I can do it,” he says, “I'm still young. And if it breaks out, I don't care. ”It sounds pretty mellow for a teenager who still has so much to do but already knows that he has less time for his plans than his friends. Does it look different deep inside him? Maybe he's protecting himself by trying not to panic. Fatefulness might be a good strategy. He gets help in exchange with other affected people, and he also wants to take part in a study. The relationship between Jakob and his mother has also grown closer since the diagnosis. He's now living with her again.

No trip to New Zealand, no parachute jump: Jakob has not yet planned any spectacular actions, he does not want to rush to achieve something that he may not be able to do in a few years. Meanwhile, Islam gives him support. “I have the feeling that I can talk to Allah about anything,” he says, “including the disease.” On the other hand, he rarely talks to his friends about the test result, as very few people know about it anyway. Jacob doesn't want pity.

The result of the genetic test is a big burden, of course, knowing about the disease influences all further decisions. Elke Holinski-Feder, who heads the Medical Genetic Center in Munich, says: "For young people in particular, certainty can be a great burden." Starting a family or extensive vocational training. “I send some back home and say they should come back if there are concrete reasons.” Unlike her brother, Jacob's sister decided that she didn't want to know whether Huntington's is dormant in her.

Jacob doesn't want his own children, he doesn't want to do that to them

It is already clear to Jakob that he does not want to have children of his own later on. “The risk is too high, I wouldn't want to do that to you,” he says. He looks at his mother, who is sitting across from him on the brown sofa and presses the cigarette between her middle and index finger so that the restless hand doesn't let it fall. "I can understand him," says Bettina later. There was no way she would have had children if she had known about her illness.

The predisposition to the disease can be determined before birth. But such an investigation is forbidden in Germany. Only serious hereditary diseases that show up in childhood can be tested. This is usually not the case with Huntington's disease. Those affected have to travel abroad for the genetic test. However, it is possible to test egg cells for Huntington's disease as part of artificial insemination before they are transmitted to a woman.

Jakob now puts all his hope in medical research. He is convinced that in a few years the disease will be cured. And he is studying hard so that he can move from secondary school to high school. After all, he later wants to become a neurologist. Jakob has started the race against the running of time. The disease, it did not conquer him, but it awakened his ambition.