6 gezeichnete bunte Köpfe nebeneinander, sie sind die 6 Helden im Video zum Rare Disease Day
Mädchen steht mit dem Rücken zur Kamera barfuß im Meer, Text: With the help of wonderful people our daughter learnt so many things that we didn't consider possible first.
Mutmach-Geschichte von Jochen, Papa eines Kindes mit Prader-Willi-Syndrom
She is our little sunshine

Our daughter was born with the Prader-Willi syndrome in 2010, 3 years after our first daughter had been born. For the first 18 months, it was not diagnosed correctly, so we went from one doctor to the next doctor to the next doctor, before we finally got the right diagnosis. This doctor not only found the right syndrome, he was also able to recommend us to another doctor who is a very well-known specialist for this syndrome.

Since then, her development is regularly monitored, and she's getting the necessary drugs and therapies which greatly help her while growing up. Even in the early days, and ever since, she's been a very happy kid, (almost) always smiling and being very empathic about the people close to her ("our little sunshine"), so even though her syndrome causes a lot of additional efforts, she's also a great source of joy for our whole familiy.

Although the diagnosis of the Prader-Willi syndrome contained some scary news (a slow mental and physical development, the expectation of a constant search for food in later years, additional medical needs), it was also somewhat comforting to know the root cause, and to be able to take some measures for the well-being and development of our daughter and our whole family.

Achieving goals we never considered possible

Since then, with the help of wonderful people like these doctors, family members, friends, therapists, teachers, and many other people (to all of whom we are deeply grateful), our daugher has made great progress and learnt many things that we did not consider possible after we first heard of the diagnosis Prader-Willi syndrome. She's currently visiting a great school for kids with special needs, and she's learning to read and do some basic calculations. We also have her weight gain under control, and we're able to do a whole lot of fun family activities together.

Even though it's pretty sure that our daughter will always need some kind of help and assistance during her life, we as a family have had a lot of great experiences in the past 10 years, and we're very much looking forward to our future to see our 2 daughters grow up and have a fulfilling life.

Das Prader-Willi-Syndrom ist eine sehr komplexe Störung, die körperliche, stoffwechselbezogene, und geistige Symptome beinhaltet. Hierzu gehören eine bereits bei der Geburt bestehende Muskelhypotonie (Mangel an Muskelstärke, -größe und -spannung), Hypogenitalismus (Unterentwicklung der Geschlechtsmerkmale) und Störungen im zentralen Nervensystem.

Der Verlauf der körperlichen Entwicklung - Sitzen, Krabbeln, Laufen - ist verzögert. Die verzögerte geistige Entwicklung ist unterschiedlich, psychatrisch - soziale Probleme ergeben sich aus Polyphagie (Fresssucht), Antriebslosigkeit und einem Mangel an Verhaltenskontrolle. Ein Mensch mit Prader-Willi-Syndrom braucht in fast allen Bereichen des täglichen Lebens besondere Behandlung.

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