Film about gene defect Williams-Beuren syndrome

Highly praised movie with leading actress with WBS

04/25/2014

The Williams-Beuren syndrome (WBS) is a genetic change in the genome, which leads to mental and physical disabilities in those affected. The genetic defect rarely occurs and often remains undetected. Physicians, self-help organizations and those affected have long struggled to bring the issue to the public. Hardly anyone knows what WBS is and what the genetic defect means for those affected and their relatives. A new, highly acclaimed movie shows the love story of two disabled people. The sympathetic leading actress Gabrielle Marion-Rivard suffers even WBS.

Genetic defect Williams-Beuren syndrome often remains undetected
People with Williams-Beuren syndrome suffer from different physical and mental impairments. Many have a relatively small head and often suffer from upper respiratory infections, middle ear infections, hearing disorders, vision problems (strabismus), heart defects, a curved spine, and growth delays in childhood. In many WBS patients dwarfism occurs. Optically, the genetic defect in the face through features such as a broad forehead, a spherical nose, a narrow chin and full pout lips. Often a first suspicion can already be confirmed by eye diagnosis. But only further investigations among other things of the blood give last certainty. The syndrome is named after its discoverers, the cardiologist J.C.P. Williams and Alois J. Beuren, who first described WBS in the 1960s.

Jörg Wein got the diagnosis at the age of three. In conversation with the news agency „dpa“ report the 43-year-old and his parents from the first symptoms, the stressful diagnosis and a life full of zest for life. As a toddler Jörg fell over again and again noticed at a pediatrician by general developmental delay. „In the clinic then came the club: 'Your son is mentally and physically disabled“, tells his father Bernd Wein. It took six and a half weeks before the diagnosis of WBS was clarified. Today, it all goes much faster. "Jörg's heart, liver and head were thoroughly examined in several clinics and during adulthood a painful bowel inflammation occurred in him, which affects many people with WBS. painful misdiagnosis detected.

Williams-Beuren syndrome is caused by missing genes
The cause of WBS is genetically determined. In one of the two chromosomes 7 missing several genes (deletion). This mutation can lead to different cognitive and physical disabilities, which may vary greatly from case to case. At present it is not known how many people in Germany are affected by WBS. The WBS-Bundesverband has about 700 members. „There are many unrecognized cases, "explains Professor Rainer Pankau, pediatrician at the Heidekreis-Klinikum Soltau / Walsrode, to the news agency, which estimates the number of births is estimated to be 1 to 8,000, with approximately 674,000 newborns new cases per year. „But this is only an expected value and about half of them are diagnosed. "According to Pankau, many adults do not know that they have WBS, but due to international scientific research, the genetic defect is becoming more and more known.

Also the new movie „Gabrielle - (k) a normal love "helps to make the topic more public. „The film is very important for us, "emphasizes Jörg's father, who has taken over the chairmanship of the WBS state association North Rhine-Westphalia with about 140 people affected. „To bring the issue to the public. To inform what the HBS is and to draw attention to the fact that one or the other may even have it unknowingly. "Bernd Wein knows: „If you know your way, the promotion can start early, which is recommended. There just happened to be a case in which WBS was only diagnosed in a boy at the age of 21. "

Doctors now make the WBS diagnosis faster
As Pankau reports, pediatric cardiologists in the meantime would quickly come to a confirmed diagnosis of HBS if they examined children with the typical symptoms. These included heart defects, abdominal pain, drinking and eating problems, narrowing of the main artery, frequent vomiting and developmental disorders such as language acquisition, sitting and running. The trained eye can detect the genetic defect early by eye diagnosis. „Almost regularly in children with Williams-Beuren syndrome is also a pronounced noise sensitivity. Toddlers do not like the vacuum cleaner, the blender or the New Year's Eve ", said Pankau, who often require support in everyday life so that an independent life is usually not possible.

Jörg also receives a lot of support from his parents. He works in a sheltered workshop where he punches plastic inserts. „Expressing blister, I have a task now. "Father Bernd Wein drives Jörg and his colleagues daily to the workshop by bus and picks them up again. His dam Ellen Wein is also present: „He always needs some help.“ The 43-year-old can read and write in block letters.

Jörg's father reports that people with WBS are conspicuously positive, open, friendly and kind. He also does this experience daily during the association's work. „Many have a very phenomenal personal and spatial memory and are very musical. "Jörg is also very musical and can re-enact melodies from memory on the keyboard. „Children with the Williams-Beuren syndrome are wonderful people, "emphasizes the pediatrician after 25 years of experience with WBS patients.