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She is one of 40 to be Concerned: the Berlin Doctor is researching your own disease

It sounds like something out of a horror movie, but it is for a minimum of 40 people in Germany, the reality is that where There is recently tissue was grown bone. The disease, called FOP, and is even among Physicians, little is known.

Some diseases are so rare that many Doctors have never heard of them. One of them is the genetic disorder Fibrodysplasia Ossificans Progressiva (FOP), also Münchmeyer syndrome. Just 40 people in Germany are known. Statistically, a Patient comes to two million people. The disease is among the approximately 8000 known Rare diseases is therefore particularly rare.

It started with a shortened toe

The Berlin-based Nadine big man is one of the few Affected. When she is born in 1991, and one of her big toes is significantly shortened, to measure the Doctors the is not of importance. “A malformation, not bad at all, it was thought at the time,” said big man. It is now clear: A big toe that is wrong grows or shortens, it can be a sign of FOP.

In FOP patients, the body forms due to a genetic defect in wound healing, no scar tissue, but bone. Even small injuries can cause joints to suddenly become immobile and the body stiffens slowly. “The bones are where they belong,” explains big man.

Your jaw can open only 5 mm wide

With her on the jaw, hip and shoulder additional formed bone material. The jaws can open only five millimeters wide. “The food takes a very long time and I have to cut everything very small,” says the 28-Year-old. Heart in the Apple bite, it’s impossible. A Steak enjoy: tedious.

Your hips can no longer stretch, so that it runs to the front of the bent. Your right Arm can’t lift higher than shoulder high. “If I want to take things from a high shelf or Cabinet, it will be difficult,” said the young woman, who also has problems, to tie a ponytail.

“Operations should be avoided at all costs”

In patients like Nadine Großmann, a molecular pathway is the fourth überakti that controls the normal skeletal development. Ossification of relapses may also be due to falls and operations. “Operations should be avoided at all costs,” says big man.

The ossification can also develop without external influence. Some patients would, for example, regular bumps under the skin, caused for no apparent reason.

Only one clinic in Germany with FOP experience

The Knowledge of the disease wasn’t yet very widespread, regrets the young biochemist, who is currently researching her doctoral thesis at the Free University of Berlin/Charité hospital at the molecular signal transmission in the case of FOP. And she’s trying to make with the FOP Association, the disease is known.

Under the Hashtag #curefop (heals FOP) want to Sufferers of the disease also give social media a face. Nadine big man has the Hashtag on your forearm tattoo – a picture of your defective gene sequence.

“Often lasts for years until the true diagnosis can be made”

If you don’t have taken from the first thrust, at the age of 13 years, a long time to diagnosis, only about half a year. “Other patients must often wait for significantly longer or did not even know of their disease,” says the tall man, the dark figure is high. Nationwide, there is only one hospital, which have a lot of experience with the disease – in Garmisch-Partenkirchen.

In the case of many rare diseases is a long way to Diagnose the Problem is great, explains Annette Grüters-Kieslich, Chairman of the Board of the Eva Luise and Horst Köhler Foundation for people with Rare diseases, on the occasion of the day of Rare diseases on 29. February. “Due to the lack of information and specialists, it often takes years before a correct diagnosis can be made.” Many families, through Odysseys of the clinic walked to clinic.

Apps and search engines to help in the diagnosis

Specialized search engines and Apps can now help to accelerate the path to diagnosis. How about the “Phenomizer”, developed by the Berlin-based bioinformatician, Sebastian Köhler and colleagues. Doctors and scientists worldwide can feed the search engine with a standardized language, symptoms, and disease characteristics of patients entering and then get suggestions for diagnoses.

“On a monthly basis, the Phenomizer is used about 2000 to 3000 Times. A part of the scientific community has understood that it is no longer necessary, for weeks in libraries, and poring over books,” says Köhler. Some tasks could take the Computer if they are to be provided with the right information.

“Refined differential diagnostic tools are, in General, especially for the well-trained and experienced doctor, helpful and a real asset”, so the Hamburg-based paediatric neurologist, Alfried cabbage thrower, which deals with the lengthy diagnostic process and the sometimes fatal consequences in an essay has described.

In Marburg, the search engines are considered to be a blessing

Jürgen Schäfer, head of the center for the unrecognized and rare diseases at the University hospital in Marburg, Germany, is convinced that new technologies for people with unclear and/or rare diseases are beneficial in the coming years will be enormously helpful.

He and his colleagues use, for example, the “Phenomizer” on a regular basis. These have already helped often at the time of Diagnosis in complex situations, so Schaefer. “The Tool is likely to belong to the “default program” in each centre for rare diseases, as well as search engines how to find Zebra, Orphanet, Isabel, and many others,” he is convinced.

Research on rare diseases is not attractive for young doctors

“If there is then finally a diagnosis, smash is, not infrequently, all of hopes to help, because many rare diseases and syndromes are extremely complex, but almost unexplored,” says Grüters-Kieslich a further Problem.

Research on rare diseases is not particularly attractive for young scientists, there is a lack of money and structured training and career paths. “We need a community Initiative of the public sector, private partners and civil society”, calls you.

Hope for FOP Patients

At least for the therapy of the disease FOP-there is hope: The Dresden scientists Martina Rauner and Ulrike Baschant have developed a therapy approach to prevent the ossification of soft tissues. “Initial Tests on mice have been promising,” says Baschant. Further investigations are to follow.

The development of a drug for humans but can still take a few years. The Köhler Foundation, and the Association Alliance for Rare diseases (Achse) is characterised by the researchers in this year for their work with a 50,000-Euro prize.

Nadine big man finds the approach “very interesting,” but notes that he was still in its infancy, and we must wait for further results. You tried to keep yourself fit, and your lungs with Singing in the choir, and flute to strong. “Due to the limited mobility of the thorax, it may happen that the patient short of breath,” so big man. This should not however necessarily be the case. “Every disease is different.”