Rare diseases are not diagnosed in the patient’s world

There are about 8000 different forms of rare diseases. They are designated as such if there are fewer than five among 10.000 people suffer from them. Overall, they account for a quarter of all diseases.

Around four million Germans suffer from a rare disease. Many go through an odyssey until they are diagnosed, as the Kohler family did. But there are now contact points for those affected.

T he doctor gives the mother a Polaroid photo of her newborn son. So she has something to remember him by if he dies. Ingrid Kohler (real name known to the editors) takes only a brief look at it. Then she runs to her son, who is in an incubator. His skin shines dark red. Is very tense. But he breathes evenly and calmly. Dying – such nonsense, thinks the mother.

For three weeks, David lies in an incubator with high humidity, without a doctor at the university hospital being able to tell what is wrong with him. The reddish skin fades, a shiny membrane comes off. Underneath, a heavily scaling skin appears that feels firm and hard.

The nurses bathe and cream the child daily, but the family does not receive a diagnosis. That is why the mother takes her son home on her own responsibility. The fact that he suffers from a rare disease, she learns only much later.

Seven years until the disease is detected

A rare disease affects four million Germans and 30 million Europeans. There are about 8000 different forms of these rare diseases, which are designated as such if fewer than five among 10.000 people suffer from it. Taken together, however, they are not rare at all – they account for a quarter of all diseases.

These include autoimmune disorders, epilepsies, rare eye or movement disorders, malformations of the intestine, neurological diseases or skin diseases, but also cystic fibrosis or hemophilia. Almost 80 percent of these diseases are genetic and difficult to diagnose. On average, it takes seven years for a doctor to recognize the disease.

Patients often feel left alone

A terrible diagnosis – and then? Many patients feel left alone, badly advised. This is according to a survey. Above all, they would like more attention from their doctors.

In the case of little David, this happened more quickly. It took one and a half years until the final diagnosis was made. Your son is one among 200.000 people with a particularly rare form of ichthyosis. In this hereditary skin disease, the horny layer of the skin is altered so that it can bind water poorly. She dries out quickly and needs permanent moisture and fat. People get hypothermic very quickly without feeling it, and may sweat poorly or not at all.

Twelve doctors, no diagnosis

Ingrid Kohler only learned all this later. She ran with David to twelve dermatologists. Did not get a diagnosis. Instead, there were acidic ointments and other creams that made everything worse.

She put down all ointments and looked for help in the encyclopedia under "fish scale disease", because in 1996 she could not yet get information on the Internet. She was busy caring for her child around the clock: She bathed it every morning and evening for 45 minutes, cleaned off the horny layers of skin in the water with a microfiber cloth. It prevented the skin from keratinizing so badly that it cracked and became infected. The disease remained, but the scales became less.

Like ichthyosis, most rare diseases have no cure. Thomas Klockgether, director of the Center for Rare Diseases at Bonn University Hospital, knows how difficult it is to get the right diagnosis in the first place. This is the facility to which general practitioners or specialists turn when they are at a loss for answers. A pilot then helps them choose a specialist.

New special centers

Klockgether knows the long distances that children in particular have to travel with their parents. Many hereditary diseases occur in them, although both parents are healthy. Many of these children have a very short life expectancy and severe impairments. Families start the journey at the family doctor. Then run from one specialist to the next. This is where new centers at various university hospitals are now helping. Similar to Bonn in the neurological field, they have specialized in certain rare disease patterns. However, the 25 centers are not yet certified – which is important so that the patient actually meets a specialist who has experience.

The doctor needs experience especially when untypical complaints such as muscle pain and vision problems come together. Since many rare diseases are hereditary, the best way to identify them is through molecular genetic testing. With blood sampling, patients can be spared biopsies, lumbar punctures or other interventions, and diagnoses can be made quickly.

Gene checks could help

But the search for a mutation among hundreds of genes can only be successful if the doctor has an idea what to look for. Everything else is like a dice game. Larger-scale genetic checks, which have been possible for some time, are useful.

But these are not routinely covered by health insurers, criticizes Klockgether. Every patient has the right to know what is wrong with him or her. This does not mean that the disease can be treated, but: "You can always do something about the symptoms and you are not completely helpless," says the neurologist.

8000 diseases are hardly researched – among others ichthyosis

Mui Thomas from Hong Kong suffers from the rare disease harlequin ichthyosis. Her skin renews and peels much faster than in healthy people. Despite this, she leads a normal life as a rugby referee.

Ingrid Kohler feels helpless only in the beginning. Then she comes to the self-help group Ichthyosis via a children's network. She learns of two doctors throughout Germany who specialize in the cornification disorder. Someone makes the diagnosis. And a skin biopsy reveals the details. David suffers from lamellar ichthyosis; this genetic defect was inherited from his father and mother, in whom the disease did not appear. The child gets an ointment tailored to him, wears damp T-shirts and cloths in the heat so that his skin does not dry out. From now on, their pediatrician can always consult with the specialist.

There is help on the Internet

Today, online databases and self-help groups help bring doctors and sufferers together. In the se-atlas database, sick people can find specialists in their area. The atlas is constantly updated so that someone with a suspected illness does not have to travel to a special clinic where the right doctor may have long since stopped practicing.

Self-help is also offered by the Alliance of Chronic Rare Diseases, which brings together 120 organizations. About 1000 calls get Lisa Biehl. Your team annually. They are relatives or patients with a rare disease who no longer know what to do. Most of them have been told at some point that their illness has psychosomatic causes. But it's not only sick people who turn to the pilots, but also the medical profession, reports the deputy managing director: "No doctor can know 8,000 illnesses," says the deputy managing director. Internationally, they can exchange information in the Orphanet database.

600 euros a month for care

For patients, diagnosis is an important step, but the next is treatment. Because medication is hard to get – and expensive. The German government is now funding research into rare diseases to the tune of 20 million euros. Because it takes a long lead time for a drug to get orphan drug status. It is hardly lucrative for the pharmaceutical industry to develop cures for rare diseases. That is why the European Union promotes these means.

This means that sick people often have to help themselves, as do the Kohlers. David is now 19 years old, and the bath additives and ointments for the treatment of ichthyosis cost 600 euros every month. He has to pay for everything himself, because he needs care products from the anti-aging sector. He spends about 200 euros each month on bath additives alone – for 40 kilos of simple baking powder that dissolves the cornifications of the skin.

In the meantime, his mother has nothing to do with his care; instead, she helps other parents with the advice she lacked 19 years ago. She does not blame the doctors for giving her so little help at the time. It was simply ignorance, a doctor could not recognize every symptom. "In the end, we were still very lucky," she says. For David not only did not die, as initially feared by the doctor. He can even grow old with this disease.

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