There are many together, but everyone is mostly alone

Fabry disease: "You become mad as a patient"

Helene Kolwe *, 48, has always had a good feeling for her body. She was a long-time competitive athlete: she was cycling until the mid-30s and later became a summer ski instructor. All the more astonished she was when she noticed in 2006 that she suddenly was not so powerful, she was always dizzy. Out of the blue she got an inflammation of the pancreas, but without the pain that is typical of this disease.

At some point her pulse did not come to rest after the sport. Her heart was beating like crazy, gasping for air. She went to the internist who guessed it could be the first signs of menopause. "In December 2008, I suddenly tipped over while training, as if someone had pulled the ground from under my feet," says Helene Kolwe. "After that I could not lift my arms properly anymore."

Helene Kolwe * spent many years searching for the right diagnosis - she has a genetic defect.

It's the beginning of a yearlong odyssey, finding an answer to the question of what's wrong with her. In January 2009, a herniated disc is diagnosed, she is operated on - and is happy: "Finally I had an explanation for my complaints." But in rehabilitation her muscles suddenly began to twitch in the whole body, one arm was still completely without power. A friendly doctor finally measured the conduction velocity of their nerves. And indeed: Something was wrong.

She made an appointment at a university hospital, she had to wait three months. "When I finally sat in front of the neurologist, he barely looked at me, just leafing through my folder full of documents," says Helene Kolwe. She told him about her shortness of breath and cardiac arrhythmia, which can not be controlled. "After a few sentences, the doctor had the diagnosis ready: that was psycho-organic, I had panic attacks, I was speechless with anger."

More often, she will wait months for appointments, meet doctors who have already formed a firm opinion before even talking to her. Again and again she will also encounter pure helplessness and be further referred. Again and again she will be at zero.

In 2010, she finally helped a magnetic resonance tomography to a first track: The images showed an enlargement of the arteries, which presses on a part of her brain. When Helene Kolwe is operated on, the surgeon discovers that the artery has enlarged and turned and has grown into the brainstem over a distance of ten centimeters. You can not solve them.

After months she gets the message: suspected Fabry disease.

Meanwhile, Helene Kolwe has had to give up her work as a palliative specialist; she lacks the strength to do so. Her whole body cramples at night, sometimes for hours. "I'm not going to let it go, I've always had a horse nature," she says. "But my husband takes my illness very much."

Through a self-help association, Helene Kolwe finally finds an expert who takes care of her case together with other doctors. After months she gets the message via email: suspected Fabry disease, a rare metabolic disorder. It may lack a messenger that holds the vessels together, hence the proliferation in the brain. In the Morbus Fabry Center in Münster she has a genetic test made; At the end of 2012, she finally has the result.

It has a variety that in turn occurs only in five percent of all Fabry disease patients. Among experts, however, is disputed whether this genetic defect could not be a separate disease - or if it was ever disease-causing. This diagnosis is as vague as much of what she has heard in the past few years. "You become crazy as a patient," says Helene Kolwe. "You have something, but you do not have it." There is no therapy for them anyway; only physiotherapy is good for her.

The search continues anyway. The question is, maybe another condition could cause her symptoms. Helene Kolwe is full of hope: She has since met a doctor who is really interested in her case. "Maybe he can put all the tracks together."

* Name changed by the editor

Guillain-Barré syndrome: "I was knocked out from one day to the next"

What Sibylle Voelker has experienced is no longer visible to her. One could only wonder at little things, such as that every time she yawns, her left eye is approaching. Five years ago, the 43-year-old singer fell ill with a very rare inflammatory nerve disorder, the exact cause of which is unknown, but which may be caused by a common cold, or a vaccine or a gastrointestinal infection - and all of us can meet.

For three weeks she was in intensive care; her old power has still not quite recovered. "It started on Christmas days with a tingling sensation in my feet and hands, and my feet got cold in my legs," says Sybille Voelker. "I thought that had to do with the stress of the holidays and my weakened immune system." At that time, she had a five-month-old baby and a three-year-old daughter who was constantly bringing home some kindergarten infections.

Sibylle Voelker fell ill with a rare nervous condition - probably due to an infection.

Within days her condition worsened, paralysis occurred. "I could not walk anymore, just crawl, and I could not nurse my baby anymore," she says. Her husband took her to the emergency room. And she was lucky.

Because, statistically, only one or two people per year suffer from 100,000 people, doctors quickly diagnosed what they had: Guillain-Barré syndrome. A disease in which the protective layer of the nerves is attacked and destroyed by the body's own immune system. As the respiratory muscles can also be affected by the paralysis, Sibylle Voelker is taken to the intensive care unit. A few hours later half of her face was paralyzed, she could only laugh. "I was knocked out from day to day," she says.

For three weeks she will not see her daughters anymore, she is in great pain along the spinal cord and can hardly sleep. It has to be turned every half hour. Patience is the magic word, the doctors tell her constantly. But the drugs help her. And with difficulty, she begins to walk again: In rehab, she struggles from a wheelchair to a walker and walking sticks.

I spent almost one and a half years on the couch.

When she comes home from the clinic after almost three months, she still lacks any strength. "I spent almost one and a half years lying on the couch," says Sibylle Voelker. "I've always been such an active person." At first she sleeps twelve hours a day. A home helps her at first, but above all help her friends, relatives and her husband.

Although most GBS patients gradually recover, paralysis and emotional distress may be left behind. Sibylle Voelker was lucky. Her illness has healed, also because the diagnosis was made so early, she was told. And yet she had to change her life, canceling much of what she always did. In the evening her battery is empty, she starts to stutter today or feels a tingling sensation in her feet when she is stressed.

Always at Christmas, the memories, the fears return, that they could be thrown off track again. Even her older daughter has not overcome the experience for a long time. But Sibylle Voelker knows: "Basically, I can be grateful that I'm back so well in life."

Ullrich-Turner syndrome: "I lead a normal life"

If you ask Inge Feiner, 40, if she feels she is ill, she has to think for a moment. No, she says then. "It's just a little peculiarity." For her job as an accountant this feature has no meaning, she says. Your employer does not know about it. Inge Feiner is a little smaller than other people, 147 centimeters, her tissue is less firm, her body produces too much lymph fluid, so it must regularly for lymphatic drainage and because of the many liver spots for inspection to the dermatologist. Liver and kidney values can be tested regularly. "I have a few more doctor's aisles," she says, "but otherwise a normal life." She does not want a disability card, as other victims have him.

Inge Feiner * has a rare chromosomal disorder.

Obviously, Inge Feiner's specialty is not. It is a peculiarity of their chromosomes. Instead of two X chromosomes, it has only one X in some cells, and in others also parts of a Y - caused by a whim of nature. Ullrich-Turner syndrome is the most common chromosomal disorder in female embryos. 98 percent die early in the womb.

Some of the pregnant women decide to have an abortion when they receive the diagnosis. It is estimated that only one out of 2,500 girls with Turner syndrome is born. How strongly this syndrome is pronounced is different for everyone. Most sufferers have non-developed ovaries and a higher risk of thyroid and heart disease as well as diabetes. However, their life expectancy is statistically low at best.

The others matured, and I realized that I am different

Inge Feiner was always one of the smallest as a child. But since her parents are not big, no one has wondered. At 15, the rule was still waiting, the consulted doctor advised patience. "The others got more mature, and I realized that I'm different," says Inge Feiner. When she was 18, a genetic test gave her clarity. "For me, a world collapsed," she says."I already wanted to have children once." Her mother hugged her, but there is little talk at home about the diagnosis.

The doctor prescribes to her the hormones that her body does not produce, in a year she goes through puberty. She has to swallow one tablet daily until menopause. She falls in love, leads relationships, marries. With her husband, she plans the adoption of a child, but when the marriage fails, she gives up the dream with a heavy heart. What strengthens them are women from a self-help group. She is happy about that. "I would never have met these friends otherwise."

* Name changed by the editor

What are rare diseases?

A disease is considered rare if not more than five out of every 10,000 people in the European Union are affected. An estimated four million people in Germany live with a rare disease. In their entirety, the rare are as common as one of the major common diseases.

7,000 to 8,000 diseases are classified as rare. They often have very little in common: very specific metabolic and rheumatic diseases fall as well as burn injuries and cancer in children. Most of these diseases are chronic, often serious and associated with limited life expectancy. About 80 percent are genetically determined.

One of the biggest problems for sufferers is finding doctors who are familiar with their condition. On average, the diagnosis is made after seven years. Medicines, if any, are often not approved for these specific cases.

Recently, the Federal Government, the Alliance of Chronic Rare Diseases (ACHSE e.V.) - an association of 120 patient organizations - and a further 25 alliance partners have drawn up a National Action Plan. It describes 52 measures designed to improve the care of people with rare diseases. One goal, for example, is to make pathways to specialist centers and qualified treatment options transparent and accessible. For example, a new information portal will be created.

For most sufferers, there is no cure. "But it's crucial for her to get a diagnosis," says Dr. Christine Mundlos, who works as a doctor for the AXIS. "The diagnosis creates clarity and promotes acceptance for the person concerned and his social environment." Those who have a diagnosis can actively take their lives into their own hands, search for experts and possible therapies, talk to other people affected - and feel a little less alone.

Help and information is also provided by the Orphanet, a rare diseases database, which includes information on medicines, research projects, studies, guidelines, self-help organizations and professionals.