Usher Syndrome: The world is getting dark and quiet: One day Maik will be blind and almost deaf

He would have had the best childhood ever, says Maik, who doesn't want to tell his story under his real name here.

Usher Syndrome: The world is getting dark and quiet: One day Maik will be blind and almost deaf

He would have had the best childhood ever, says Maik, who doesn't want to tell his story under his real name here. The blond, athletic thirty-year-old looks like the archetypal North German. Calm, relaxed and friendly taciturn. He grew up in a small town up north, in Schleswig-Holstein, the land between the seas. He was outside from morning to night, always out with his friends. He says he would love to go back there immediately. Back to lightness. Although, as he himself says in retrospect, it was actually already apparent back then that something was wrong. But how serious this "something" would become and that it also affected his sister would only become clear more than two decades later.

Maik was born hard of hearing. At the age of two, his clearly limited hearing was diagnosed. That wasn't an issue in his childhood. Thanks to the good hearing aids, neither he nor his friends gave it a second thought. Puberty then changed everything, as it does for many teenagers. "When I turned 15, that was the last birthday I celebrated," says Maik. He withdrew more and more and was silent. Maik doesn't let anything come to his parents. They, too, blamed his behavior on the whims of puberty. Her son has always been very shy.

However, when his mood did not change over the years, it became clear: Maik has a depression. His shyness grew into a social phobia. Around 1.7 million people in Germany suffer from this form of anxiety disorder. Every social contact, be it while shopping or walking through a pedestrian zone, triggers the fear of those affected that they will find themselves in situations in which they will fail, make a fool of themselves. "I would like to go for a walk again, maybe even with the family dog. That would be a dream," says Maik. But the idea of ​​someone meeting him on the way from the village to the forest, even if he was walking on the other side of the road, triggers a panic in him. Even 100 meters is a hardly surmountable distance. Panic means palpitations, sweating, tremors, and fear that people around you will notice, which in turn increases the panic. A vicious circle.

"I was at the grammar school in the county seat up until the tenth grade. I had grades four and five. Not just because of my phobia, but also because of my hearing loss," Maik recalls. Although the teacher spoke into a microphone connected to the hearing aid, he heard little from his classmates. Passing the mic around wasn't a solution for him either. Along with the fear of embarrassment, the finger stayed down, although it very often knew the answers. Maik smiles: "Then I made the best decision of my life and went to a high school in Hamburg that had special classes for the hard of hearing." A normal high school, not a "special school". Small classes, specially trained teachers and rooms specially designed for better acoustics.

The school was recommended to him by his mentors for people who are hard of hearing. The parents welcomed the idea but left the decision up to their son. "It was clear to me that this was my last chance to graduate," Maik looks back. But alone in the big city? Coincidentally, his sister got an apprenticeship in Hamburg at the same time. The two moved to the Elbe together. In the new class, his grades improved rapidly and Maik passed his Abitur with good grades.

His classmates celebrated the end of school. "Everyone said to me: Maik, now the whole world is open to you! Yes, I thought, that's exactly the problem". He would have preferred to stay in school forever. Not that he liked going to school that much. But the freedom that is coming now could only be worse, he imagined. His sister did not feel comfortable in the Hanseatic city. What bothered her, he liked: the anonymity in her apartment building. Both eventually went back to their home town. Staying alone in Hamburg was not an option. "In the anonymity with all the possibilities of online orders, I would be completely lonely in the apartment," Maik is convinced today.

A badminton game three years ago was the trigger for a diagnosis that turned the lives of Maik and his family upside down. "I didn't see every second ball anymore," he says. Years ago he noticed that he had tunnel vision. But he blamed his panic attacks. After all, even with great fear, the perspective would narrow, he explained. That was a bit of self-deception, he is convinced today. In his mood lows, he pushed a lot of things away from himself for years. Or she suitably arranged. And he had always been night blind anyway. Just like his sister.

A little later, early in the morning, at dusk, he had a small car accident, not serious and without the involvement of others, but he hadn't seen something. Then he went to the ophthalmologist. "He immediately noticed that something was terribly wrong and referred me to an eye clinic. There, a severely narrowed field of vision was found. Together with the hearing loss and night blindness, these were the typical symptoms of Usher syndrome," Maik recalls. The diagnosis was confirmed at the Institute for Human Genetics in Kiel.

Usher syndrome is a hereditary disease. It begins with a lack of weight or hearing from birth, followed years later by a slow death of the photoreceptors on the retina, starting from the outer edge to the center. The first sign is severe night blindness. With the progressive failure of the receptors, the field of vision narrows over the years. A young person with normal vision can see things at an angle of 175 degrees, which narrows to 139 degrees as we get older. Maik has a five degree field of vision. As narrow as the focused beam of a flashlight in the dark. He can still see within this cone of light with 75 percent vision. After all. He can read and watch films on his tablet. And very important for him: listening to music.

With his symptoms, Maik belongs to Usher type II, the most common type of this genetic defect. Type 1, the most severe course, begins with congenital deafness, type III with progressive hearing loss. What they all have in common is the unstoppable degeneration of the retina. People with Usher Syndrome Type II will eventually go blind and have limited hearing.

Marcell Feldmann is in charge of organizing the Usher consultation hours at the Berlin Charité. For him, the late diagnosis is no surprise. "Usher syndrome is usually only diagnosed between the ages of 30 and 37. It is a gradual process that drags on for decades." Feldmann is himself affected by Usher. How long it takes to go blind or become completely deaf depends on the individual case, he knows. No one is like the other. Especially when it comes to the eyes. A quarter would get cataracts in addition to the degeneration of the receptors, which then enormously impairs the ability to see. Others could still see for many years, or at least distinguish between light and dark. Usher II patients generally do not become completely deaf.

"The diagnosis didn't hit me particularly hard. I'm depressed and have a social phobia. Now that doesn't change much either," says Maik without any hint of gallows humor. The depression, the fears were his main topic, as well as the many unsuccessful attempts to find a therapist. Anything else, even if there had been clear hindsight, would have disappeared behind it. In addition, he had been to the ophthalmologist years ago because of the night blindness. "When he said there was nothing you could do about it, the issue was over for me," says Maik. Ever since he was a child, doctors have looked at each symptom individually, never as a whole. And another connection was not considered: Maik's sister.

"In human genetics I was told that I should send my sister over," says Maik, looking back on that day. No one in the family had ever linked the symptoms between the siblings. Maik's two-year-old sister is also hard of hearing from birth and suffers from severe night blindness. "But she's a completely different type than me, full of energy, always in a good mood, rousing," enthuses Maik. The symptoms are also much less pronounced with her than with him. The thought of a hereditary disease was completely alien to everyone in the family.

"Illnesses in siblings are not uncommon, whether they are years apart or were born as twins. Often neither the siblings nor the parents come up with the idea of ​​a hereditary disease, even if both children were born with severe hearing problems," says Marcell Feldmann from his work in the association "Living with Usher Syndrome".

The diagnosis hit his sister like a blow, says Maik: "She cried when the doctor talked about white canes, Braille and the forms for disability benefits." The doctor, it seemed to him, was equally overwhelmed by the situation. Such diagnoses are rare. Statistically, three to six people in Germany out of every 100,000 have Usher syndrome. There are no exact figures. If a person is blind and deaf, then there is an 80 percent chance of Usher syndrome. In Germany, this affects less than 10,000 people.

"After the diagnosis, we sat down with our parents and talked about what we have and what that means. Finally we all got up and hugged each other tightly. No matter what, we can do it together!" Maik says, slightly hesitant and adds: "I have the best family in the world, for sure."

Shortly before the diagnosis, Maik moved into his own apartment at the request of his parents. He has to learn to get by on his own. For lunch, however, he walks the 400 meters to his parents' house. "If others saw my interior, they would probably find the apartment cold. Everything is in its place, nothing is lying around. And the additional ceiling lights installed make it very bright. It's perfect for me," says Maik.

His sister has taken over the management of their parents' business and Maik works there too. For him, the shop is a protected space. He knows his way around, knows the people and routines. Regulated processes are important to him, he says. Nevertheless, customer contact remains difficult for him. But his sister has a solution ready for that: In future, he can help her with the "paper and administrative stuff", even from the home office.

"You can call it luck in disguise that my sister also has Usher syndrome, so I'm not alone and neither is she. She told me right away that we would do everything together," says Maik. Disabled people who live in rural areas have to put up with a lot of things. Self-help groups, seminars and training courses for the siblings take place either in Kiel, Hanover or Hamburg. Every journey would be a challenge. But it will take a while until then, says Maik. His sister pushes the thought of it even further into the future than he does. But he is also afraid of what is to come. He prefers to suppress the thought that he already has enough construction sites.

The offer for those affected by Usher and their relatives is sparse, but highly professional. For the initial need for advice, there are two Usher consultation hours in Germany. One in Tübingen specializing in medical matters and one in Berlin that is more broadly based. "In Berlin we follow an interdisciplinary approach. In addition to doctors, there are also social workers and therapists. All on a voluntary basis," says Feldmann. In these consultation hours, the state of health is determined and then a timetable is drawn up.

Even if the symptoms are not yet serious, at some point you have to deal with mastering your life without sight. In Hanover there is a basic technical training for the deaf-blind at the deaf-blind work. "Here you not only learn how to use a cane and Braille, but also everyday things like cooking," reports Feldmann from his own experience. In any case, he feels well prepared. The 50-year-old is blind in one eye, in the other he can only dimly see things in a visual angle of three degrees. "It may sound strange, but sometimes I look forward to being completely blind. It's less of a strain then and I can cope," he says with a light laugh in his voice.

The group of people affected by Usher is small, says Feldmann. He can only recommend membership in the Usher Association. On the one hand, to get access to people in the same situation. On the other hand, also because of the free legal aid. "Legal advice is a big issue. You have to constantly deal with the authorities and health insurance companies, be it for grants or aids such as hearing aids," says Feldmann.

Maik and his sister first want to take one step after the other. Together.

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