Down Syndrome Awareness Month


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October is Down Syndrome Awareness Month...To raise a little awareness I decided to blog about the topic. Almost everyone knows that the disorder is caused simply by an extra chromosome. Sometimes the chromosome is added because a woman is older, around early 40s, sometimes even late 30s. This tends to happen because women the eggs of "'older women go bad.'" From a more scientific stand point it makes sense. A woman is born with all the eggs her body will ever hold, whereas a man's body is creating new sperm 24/7, once he has hit puberty. Regardless of the cause, people with down syndrome are faced with everyday challenges (Understanding Genetics).


People who have Down Syndrome suffer from cognitive development issues, health and heart issues, and some other things. Unfortunately, another complication of down syndrom is that these individuals are put at a higher risk for leukemia. I volunteer at a camp for children with life threatening illnesses and many of my campers have down syndrome and have or have had leukemia. JAK2 is the gene involved with down syndrome. Much of the time, mutations in this gene are linked to Acute Lymphoblastic Leukemia (ALL). Children with down syndrome are at a twenty times higher risk of getting ALL than other children are. 

With such health risks, wouldn't parents and doctors want to do their best to figure out some type of cure or treatment? Well, currently... a lot of new resarch is coming out, which is posing lots of questions.

In terms of down syndrome prevention as a whole, some new research came out this year. Dr. Jeanne Lawrence discusses the news in the article, "Breakthrough that one day prevent down syndrome." Scientists feel as though the same genetic switch found in our DNA, which determines the sex of babies, could be used to "neutralize" Down Syndrome. In labs, scientists have been successful with repressing it among test cells. This success shows a "'proof-of-principle'" that downs could be stopped..Dr. Lawrence explains that in the past decade there have been great advances in the efforts of single-gene disorder correction. This advance may possibly realte back to the Flynn Effect.  Today's scientists are smarter than the previous generation. They have access to more technology, whether it be for research, experimenting or even collecting data. Or it could be that the scientists from the 2000s are building on the knowledge and mistakes of older scientists. There are many reasons today why scientists are getting that much closer to finding a cure or prevention for Down Syndrome.

In Lawrence's amazing discovery, her and her colleagues took "XIST," the gene that causes the X Chromosome to shut off and create RNA, and applied it to Trisomy 21 (the down syndrome causing gene.) The scientists figured that since XIST can deactivate the extra X chromosome in our genetic makeup, that it could too deactivate the extra down syndrome-causing chromosome. After testing this, scientists stated that "after the prodecure the extra chromosome stopped funtioning and the cells were able to grow more rapidly." The next step that the scientists want to take is testing the experiment on mice, and hopefully, it can eventually work on humans.

Lawrence discusses the new discovery in this video.

The scientists hope that this research will bring about new treatment for those individuals living with down syndrome and the prevention of down syndrome overall. However, some parents have voiced their concerns and anger toward the idea that down syndrome may soon become "curable." In an interview with NBC News, Jawanda Mast explained her opinion on the idea of treating down syndrome. She agrees that, yes, it would be great if the challenges and health risks could be taken away but, "'oh my goodnsss, how would that impact the rest of her?'" Brian Long, father of son with down syndrome, could completely back Mast up. He explains in the interview that, he is concerned about how playing with the chromosome could "alter the essence of his son." He states that he has known his son for 19 years, and doesn't want a "wholesale change, since so much of down syndrome impants the persoanlity and character of the person." (Could it be a "cure?")

After hearing some of the opinions of parents, siblings and others who have hands on experience with people with down syndrome...does the ethics of this "treatment" feel wrong. Many people face health issues, cancer, learning disabilities, not just those who suffer from down syndrome. Therefore, should scientists just forget the whol idea of finding treatment and solely look for prevention?? I feel as though that is the better idea. Playing with the chromosomes of those alive with down syndrome could cause more risks and issues. Therefore, I feel as though scientists should just work on chromosome correction for pregnant mothers rather than trying to change the lives of those with downs today... they are wonderful, kind people who do not need to be "fixed" or changed.

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"Understanding Genetics."Understanding Genetics. N.p., n.d. Web. 3 Oct. 2013. <http://genetics.thetech.org/ask/ask234>.

"Genetic Link Between Leukemia And Down's Syndrome." Medical News Today: Health News. N.p., n.d. Web. 3 Oct. 2013. <http://www.medicalnewstoday.com/articles/122203.php

"Breakthrough that may one day prevent Down's syndrome | Metro News."Metro.co.uk: News, Sport, Showbiz, Celebrities from Metro Newspaper. N.p., n.d. Web. 6 Oct. 2013. <http://metro.co.uk/2013/07/18/breakthrough-that-may-one-day-prevent-downs-syndrome-3887270/>.

"Could it be a 'cure'? Breakthrough prompts Down syndrome soul-searching - NBC News.com." Breaking News & Top Stories - World News, US & Local | NBC News. N.p., n.d. Web. 7 Oct. 2013. <http://www.nbcnews.com/health/could-it-be-cure-breakthrough-prompts-down-syndrome-soul-searching-6C10879213>.

1 Comment

This blog had my interest because it was personal. My oldest sister has Down Syndrome and she also had Leukemia as a baby. The type of Leukemia she had was ALL which as you stated is seen in people with Down Syndrome. Also, she has to take thyroid pills which could be due to her being born with Down Syndrome. She is a very nice intelligent person so the idea of taking away what makes her unique is a little scary to me. I agree with you that scientist should focus on the prevention of down syndrome rather than the treatment of it. I could not imagine allowing my sister to take treatment for her Down Syndrome. She is perfect the way she is. Not to mention, the risks and health problems that could occur as a side effect of this treatment. It is known that if a mother is older then that is linked to possibly having a child with Down Syndrome, but in my mother's case my sister was the first born. She had her in her twenties. Below is a link about Down Syndrome.
http://health.nytimes.com/health/guides/disease/down-syndrome

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