Walk about: Talking about Tay-Sachs

My friend Rich Lundwall talked with me this week about the National Tay-Sachs & Allied Diseases (NTSAD) 29th Annual Family Conference in Quincy, Massachusetts April 19 -22. He attended with his wife Petria and friends who are grandparents of little Elise. Please watch this 2.5-minute video to find out a little bit about Tay-Sachs.

Once thought of as a disease restricted to Jewish people, populations at high risk of carrying the gene for this progressive neurological genetic disorder include: Ashkenazi Jews, French Canadians, Louisiana Cajun, and Pennsylvania Dutch. Further, preliminary data suggests persons of British Isle and Italian decent have an increased carrier rate over the general population, according to the NTSAD.

A simple blood test will determine if you are a carrier, so the disease is preventable. The NTSAD says that "even if your childbearing years are over, your carrier status can be an extremely important piece of information. If you are a carrier, your close relatives (children, brothers, sisters, cousins, aunts, uncles) should be alerted so that they can be tested as well. Tay-Sachs carrier testing is also vital for the close relatives of families with an affected child, regardless of ethnic background, since all parents of children with Tay-Sachs are, by definition, carriers."

Previous post about Elise

Comments

  1. Anonymous7:11 PM

    Again, this is so sad. thanks Sandy for doing this.

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  2. A heartbreaking disease.

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  3. It is sad--and challenging and demanding. And yet, look at the eyes on this little girl. She sees a heaven we dream about.

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  4. Anonymous4:56 PM

    Thank you, Sandy for getting the info about TSD out there. One of our missions is to EDUCATE as many people as we can that TSD is a PREVENTABLE disease. Thanks to Uncle Richie, too, for helping with the video! Love, Laurie (Elise's mommy)

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  5. Thanks for stopping by, Laurie! As always, I'm deeply moved by t his story. Your commitment to your little girl is beautiful.

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  6. Anonymous2:58 PM

    HI im a highschool student and im doin a project on this birth defect!!! so please contact me!!!

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  7. Anonymous3:02 PM

    oh and one more thing i read the old man and the sea and i didnt like it much!!! but it did have hiiden messages that not a normal person could understanD!!! okay thank you!!!!

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