Friday, September 24, 2010
Genetics and the future.... maybe the past?
This has been on my mind like crazy. As I wrote before, the kids, Ryan and I went for Genetic testing with Queens University, and I felt good. I felt like this was going to help other families with Autism in the future, if they are able to trace something. What now has been on my mind, is genetic testing for Fragile X Syndrome. Here is the explanation of Fragile X I have found on the Internet -
Fragile X syndrome (FXS), or Martin-Bell syndrome, is a genetic syndrome which results in a spectrum of characteristic physical and intellectual limitations and emotional and behavioral features which range from severe to mild in manifestation.
Signs and symptoms
Prominent characteristics of the syndrome include an elongated face, large or protruding ears, and low muscle tone.
Aside from intellectual disability, prominent characteristics of the syndrome include an elongated face, large or protruding ears, flat feet, larger testes (macroorchidism), and low muscle tone. Speech may include cluttered speech or nervous speech. Behavioral characteristics may include stereotypic movements (e.g., hand-flapping) and atypical social development, particularly shyness, limited eye contact, memory problems, and difficulty with face encoding.
Some individuals with the fragile X syndrome also meet the diagnostic criteria for autism. Most females who have the syndrome experience symptoms to a lesser degree because of their second X-chromosome; however, they can develop symptoms just as severe as their male counterparts. While full mutation males tend to present with severe intellectual disability, the symptoms of full mutation females run the gamut of minimally affected to severe intellectual disability, which may explain why females are underdiagnosed relative to males.
This is why I am getting tested. I want to make sure that I am not a carrier, if I am, it looks like our possibilities for another child in the future will be finished. How they will test me is through a blood test, and this will determine if again, I am a carrier and if I gave it to Owen.
I dont want to use this as a, "I have Owen Autism", it is more like, "we are done, as I can not and will not give this to another beautiful child". Within the year, we will also be able to test for the Autism gene they are finding the mothers have in common. If not just for me, this will hopefully be able to help other families in the same situation.
This also makes me wonder, if Ryan and I knew we would create a child with Autism, would we have gotten pregnant? What if they could test for Autism in Utero? This all may happen in the future, and it really makes you wonder. Is science really going to help or will it change peoples minds?
For me, these questions are better left unanswered. All I can say, is I am getting the testing for me, not for anyone else or their opinions. Would I question having Owen? not at all, he is amazing. Do I wish he did not have Autism? yes. Having autism is not as bad as cancer, diabetes or anything, this is not a fatal disorder, but Owen is going to have a lot of struggles, a lot of trials and tribulations in his lifetime, and yes, in a heart beat I would take that away from him, who wants to see their child struggle?
I guess there is just a lot to think about, and would I really want to bring another baby if I knew there was a risk? hmmm.