MUHC sponsoring study to check effectiveness of online pre-screening tool
Posted By richards on February 5, 2015
By Irene Chwalkowski, February 4th, 2015
Montrealers of Ashkenazi Jewish descent might want to visit a website to take a test and find out if they are at risk of passing on genes that may result in their children having fatal/life-threatening genetic conditions. Julie Kristof is such a person. At the age of 15, she was tested for the most common Jewish genetic disease, Tay-Sachs, and found not to be a carrier. But technological advances have developed new genetic markers for other diseases, of which she was unaware. Among Montreal Jews, one in 11 is a carrier of one of three conditions: Tay-Sachs disease, Canavan Disease and Familial Dysautonomia. Kristof married and gave birth to a healthy boy, Alex. But when she had a second child, Miriam, the heartaches began. As soon as she was born, she had a tough time swallowing and had respiratory problems. She has no tearing in her eyes, insensitivity to pain, unstable blood pressure, frequent pneumonia and poor growth, said Kristof. At 18 months, Miriam was diagnosed with Familial Dysautonomia, a genetic disease. It acts on the autonomic and sensory nervous systems, which regulate all bodily functions, said Kristof, who said she wishes she had been tested to see if she and her husband were carriers of Familial Dysautonomia. Describing Miriam on her blog, Kristof writes: Her cognitive and social skills are normal for a seven year old. Shes very strong and loves indoor rock climbing. Shes a happy kid. Shes aware of what she can and cannot do. The hardest part is knowing she is in pain and there is nothing I can do. We had to bring her home from camp because she was nauseous and sick. What I see is how I feel right before I throw up. Thats how I think she feels, she feels gross. We live with that. Kristof is now the chair of the Montreal Jewish Hereditary Disorder Fund (TestJGD.com), advocating for genetic testing. The McGill University Health Centre (MUHC) is sponsoring a study to test the websites effectiveness. The best time to be screened is prior to starting a family, and right now there is a significant wait to see a genetic counsellor, explains the MUHCs Guillaume Sillon. We will be testing the effectiveness of this online pre-test genetic learning tool in educating on the inheritance of Ashkenazi Jewish genetic conditions and genetic testing. People of Ashkenazi Jewish descent will be sent an electronic requisition to undergo a blood draw for genetic testing at the Montreal General Hospital test centre. Kristof said that online screening could shorten waiting times, which can be up to one year. There are many reproductive alternatives for carrier couples, but these are major decisions and heavily depend on your beliefs and values. It is vital to know your risk factor when you are considering pregnancy so that you know your options. We were totally caught by surprise. This condition has fundamentally altered every aspect of our lives, professionally and personally. I hope that this project can help save other families some of that grief, said Kristof.
For more information or to sign up for the test, contact Guillaume Sillon 514-934-1934 ext. 43707 or guillaume.sillon@muhc.mcgill.ca or look up Ashkenazi Jewish Carrier Screening Study Montreal on Facebook. To find out more about The Montreal Jewish Hereditary Disorder Fund, go to http://www.testJGD.com or Email: info@TestJGD.com. To read Julie Kristofs blog go to: http://blog.ketubah.com/giving-a-face-to-genetic-testing/
Click here to see the full newspaper. Updated on February 4, 2015
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MUHC sponsoring study to check effectiveness of online pre-screening tool
