Parenting, testing, disability, autism

In a recent comment on an older post of Kristina Chew’s, “Eugenics, Fear, and Pain” over at Change.org, one parent says:

I found out three days ago both of my children are positive for the PTEN mutation. There is a link between PTEN and autism. I think it’s that one in every 5 people with the mutation have autism–very strong odds. I opted for genetic testing with my son. The triple screen came back very abnormal. He had 1:6 odds of Down Syndrome. I opted out of an amnio. I’m glad I did because he did not have Down’s and I’m unsure they could have told me if he had the PTEN mutation. Since only 1 in 250,000 people have this mutation I highly doubt he would have been checked for it. I didn’t know I had the mutation until 2007 even though I had every sign there is–just no name. We did not do genetic testing with our daughter. I guess the point of this is sometimes problems exist that aren’t detected. No one is guaranteed what society sees as a “perfect” child. My daughter was placed on the PDD spectrum before her second birthday. We didn’t understand the link at the time as this was around the same time as my PTEN diagnosis. She’s so beautiful and smart. The only problem is reaching her through language sometimes but intervention is changing that. Last night she was speaking to me quickly as she does and I didn’t understand her. I slowed her down and BOOM there was meaning. It’s frustrating for her in not being able to get her point across easily but she’s making great strides.

I just cannot fathom anyone not thinking my child’s life is worth it. As someone who has been through 24 operations and 3 diagnoses of cancer by age 30, my quality of life hasn’t been the greatest. My own father once said if he had known what I would go through he wouldn’t be sure he and mom would have had me. I cannot begin to explain how painful that was. Continue reading