Hoezo Anders – Hoezo helpen – Actueel

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In Nederland treffen gezinnen elkaar op 22 mei in Dierenpark Amersfoort.

Hier volgt het internationale persbericht:

While invisible to the naked eye, a small missing-piece from one chromosome 22 can cause such varied medical problems as heart defects, cleft palate, feeding, swallowing and breathing problems, learning disabilities, speech delay, autism, and compromised immune systems, among other health and developmental issues. The problems associated with this deletion have long been evident, but only recently has a laboratory discovery revealed that many of these issues can occur from what is known as the 22q11.2 deletion syndrome.On May 22nd, “22q at the Zoo – Worldwide Awareness Day!” will raise awareness of this often overlooked genetic syndrome in 10 countries over three continents. The International 22q11.2 Deletion Syndrome Foundation, Inc. has sponsored this event due to the lack of public awareness of the 22q11.2 deletion syndrome, and the continued need to focus on research and novel interventions that could allow for a higher sustained quality of life for those with the 22q11.2 deletion syndrome. Originally developed as a local event with support from the Philadelphia Zoo, the final product is the result of an amazing cooperative venture bringing together a multitude of large national and international organizations, as well as, a whole host of local groups, parents, medical institutions, and zoos spanning the globe to support the cause!22q at the Zoo will kick-off at the Sydney, Australia Zoo and conclude at the Hilo, Hawaii Zoo.  More than sixty-five participating zoos will engage children and families with activities designed to entertain young and old alike as they learn more about the 22q11.2 deletion syndrome. Participants will be recognizable, sporting the official red T-shirt and “ASK ME ABOUT 22q” buttons.

The physical effects of the 22q11.2 deletion syndrome, like many other genetic diagnoses, vary greatly. The diversity in the manifestation of the syndrome has caused confusion for the medical community in the past. At one point, the 22q11.2 deletion syndrome was referred to by over six names.  Although quite common, the varied affects and lack of awareness can makes diagnosis difficult, and has resulted in a lack of support for patient families. This event seeks to change that by helping establish a bond of solidarity between families, support groups, academic centers and clinicians.