Monday, July 29, 2013


So I 've been reading about how studies on Down Syndrome have brought along a "cure." I'm not sure if cure is the right term because Down Syndrome isn't a disease, it isn't contagious, and it doesn't necessarily go away. There are treatments for health problems that come along with DS, but it in itself is cause by having an extra chromosome which is part of your genes, which is a little more complicated than taking 1.25 mg of tylenol for cold symptoms. So reseachers have found that a gene called the XIST gene can be placed over the extra 21 chromosome to "silence" it making a person who has DS "normal." Now in my opinion, this would be more helpful for unborn children. For the mothers who hear that their child has a high possibility of being born with DS and instead of aborting their child (which to me is a pathetic way out) they have a solution. I understand that there are mothers who feel they are sparing their child the pain of countless treatments for health issues they may face, and the pain of having inconsiderate people bully them because of their physical appearance as well as their lower IQ for those with severe DS. I understand the parents that have children who have heart defects and thyroid problems and even early leukemia because of the extra chromosome and to them this is an answer to all there prayers. If my son had severe DS I would probably really consider and I probably would have called my doctor and asked if they heard anything about this "cure." The one I have a little bit of confusion with is the parents' idea that it will change their child. They believe life or God or whatever has given them a child with disabilities to better themselves and be the change the world needs. I'm sure having a child with disabilities definitely changes your perspective on life and makes you in a sense a nicer person, BUT you would use that reasoning to not help your child the way they have helped you? To each their own I suppose.

Gio's situation is a little more complicated than that even. He has Mosaicism. We don't even know where he has the extra chromosome, that alone would take months to find out because they would have to test each and every part of him. Which could mean endless blood tests, too many needles and pokes to even consider it being worth it. He only has 22% so to me it's better for him to avoid this "cure." The research has only proven to help IQ and certain health problems. It might help prevent early Leukemia and early Alzheimer's. It might help with the thyroid problems and heart problems and hearing and vision problems. The heart defects are more likely not as easily repaired with a silenced chromosome, as well as the physical characteristics. My son so far hasn't had anything major. The removal of his tonsils and adenoids has helped his weight gain in such an amazing way. Hes getting a little to heavy to carry only because I'm use to him being small. This cure wouldn't help Gio talk any sooner it doesn't improve these delays. It wouldn't help the discreet physical characteristics disappear. His muscle tone wouldn't magically improve over night and the bones on his feet wont miraculously go into place. He learns everything so quickly and is great at imitating. Yes, he might not be where a "normal" 2 almost 3 year old is at, but he is not dumb. I don't see him having a problem where his IQ is concerned. It really irritates me that people assume just because he has DS he is dumb and they assume that because he is so smart he can't possibly have DS. The DS doesn't define a child or even say anything about who they will become. The parents and people around them define that and decide whether it's about the child or the DS. My son is an amazing person so sweet and funny, I'm sure with or without Mosaicism he would be exactly who he is. It is merely a medical term. The research found is great in the sense that there will be a lower percentage rate of women who choose abortion after learning their child may have a disability. It eventually may help someone who is having a lot of health problems as in heart surgeries and blood transfusions from the early Leukemia. This may lead to something great, but for now I will cherish my son for exactly who he is, and if I were to have another child and they have full DS I will love them just as much, not because of the DS or whatever disability they may have, but because they are apart of ME.

Fun Fact I learned!
You guys can google this if you'd like, or don't believe me. While reading about all this "cure" research I found out that the extra 21 chromosome has actually been proven, in some studies, to protect the body from many cancers. A person with the extra chromosome has less than a ten percent chance (approximately) in getting cancer! It is rare for a person with Down Syndrome to get cancer. I'm not exactly sure how it works, but it has been studied that the extra chromosome acts as a protectant and it has something to do with the metabolism it creates or something like that, I'm not a doctor I couldn't understand all the terms, but I want to look into it and I will update this (:

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