Thursday, June 08, 2006

Every Day is a Long Day These Days

Here is a recent picture of Bosco - my parents dog. He is soo cute. He even gives these cute little hugs. I can't believe HOW SMALL he used to be. I keep noticing HUGE changes when I see him - cuz I don't see him often at all.
Today, I could barely get out of bed. I was just so tired this morning, yet I went to bed at a decent hour. In my morning class (Adobe Illustrator) I worked on my perspective project that is due next Thursday at the end of class (which I'm stressed about getting it done on time- but that's another story). In my afternoon class I finished my estimation (as in pricing) project with my group partner Laura and that project is done, so that's one less thing to worry about. Phew!
By the time I knew it - it was 5:30pm and it was time to go home. GOOD - because I was zonked. My sister stopped by on her way to class - as she wasn't feeling well.
At Walmart I bought a GEORGE skirt from Walmart. It was 19.98$. I wasn't so sure about it - so I went to return it and found out that it's at 14$ now. For 14$ it was more worth a second consideration. Anyhow, it also was worth a second consideration in a second colour. The one I returned was in white with turquoise flowers. Anyhow, the girl wouldn't give me a price match at their OWN store (not even a price match from another store!) and made me return the skirt. But Walmart has a 10 day price match if they reduce the price and it's been within 10 days that you've purchased the item. Well - I had bought the skirt 9 days ago. So - I did my little shopping (found a cute maternity shirt for 19.98$ and picked up the same skirt in pink (14$) and found a pair of shoes for 7$ - soooooo cute. They had the turqouise skirt on the floor - but they didn't have my size, and the girl at the cash who I returned it to - wouldn't give me the skirt to repurchase - she said if there was one on the floor I could purchase that at the new price, if not, I'd have to come back tomorrow when the merchandise goes back on the floor. So I waited til I got to the cash, and asked the cashier to get the skirt for me, but the girl at service wouldn't give it to me. My sister even tried. No luck. In the end - we had to wait like 10 minutes for a manager to come, we asked to speak to him, and he agreed with us - they do have a 10 day match price policy, and even still, they would have had to return the skirt to me at the price I actually paid, and I could have rebought the skirt..... That girl was such an idiot - it made me so mad. So I ended up spending so much more time at Walmart than I wanted to. But - in the end, the manager handed over the skirt - as I was right, and we told him to inform his employees of proper policy! In the end, I walked out a very happy camper.
I've been wondering lately about Tay Sachs.
What Is Tay-Sachs Disease?
Tay-Sachs disease is a fatal inherited disease of the central nervous system. The most common form of the disease affects babies. Affected babies appear healthy at birth and seem to develop normally for the first few months of life. After this time, development slows and symptoms begin. Sadly, there is no effective treatment for these babies. Babies with Tay-Sachs lack an enzyme (protein) called hexosaminidase A (hex A) necessary for breaking down certain fatty substances in brain and nerve cells. These substances build up and gradually destroy brain and nerve cells, until the entire central nervous system stops working. Symptoms of classical Tay-Sachs disease first appear at 4 to 6 months of age when an apparently healthy baby gradually stops smiling, crawling or turning over, loses its ability to grasp or reach out and, eventually, becomes blind, paralyzed and unaware of its surroundings. Death occurs by age 5.
Who Is at Risk of Tay-Sachs Disease?
Tay-Sachs disease occurs most frequently in descendants of Central and Eastern European (Ashkenazi) Jews. About one out of every 30 American Jews carries the Tay-Sachs gene. Some non-Jewish individuals of French-Canadian ancestry (from the East St. Lawrence River Valley of Quebec), and members of the Cajun population in Louisiana, are at similarly increased risk. These groups have about 100 times the rate of occurrence of other ethnic groups. The juvenile form of Tay-Sachs, however, may not be increased in these groups.
How Is the Disease Transmitted?
Only through heredity. A Tay-Sachs carrier has one normal gene for hex A and one Tay-Sachs gene. The carrier does not have the illness and leads a normal, healthy and full life. However, when two carriers become parents: There is a one-in-four chance that any child they have will inherit a Tay-Sachs gene from each parent and have the disease. There is a one-in-four chance that the child will inherit the normal gene from each parent and be completely free of the disease and the Tay-Sachs gene. There is a two-in-four chance that the child will inherit one of each kind of gene and be a carrier like the parents and free of disease. If only one parent is a carrier, none of their children can have the disease, but each child has a 50-50 chance of inheriting the Tay-Sachs gene and being a carrier.
Info from this site.
- Ok - so both parents have to be a carrier.
I first learned about Tay Sachs when my rabbi who was marrying Jamie & I mentioned that we should get tested before getting married, that he recommends this to all this clients. I say client, because technically we did hire him to marry us, as we don't belong to his congregation. We never got tested before getting married, I didn't think much of it then, and apparently I don't know where to even get tested, as the Montreal Children's hospital will only test you under 18 years of age - and there isn't many other places that do it.
My mom seems to think that I may have been tested back in high school or elementary school and is looking for my medical records from back then (which would be nice to have).
Anyhow, this evening I took a self night, didn't get any knitting done at all - I had some other things to take care of - but wish I had time. I took care of some homework for tomorrow and I should go crawl into bed now. Every day has been a long day lately, and I'm just frankly exhausted come early evening - even though I crawl into bed, it still takes me hours to fall asleep - sucky - really.

No comments: