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. I didn’t know my condition was genetic when we were expecting my son. I suspected it was the month we conceived my daughter. I knew there was a chance but it all came down to whether or not my life was worth it. You know what? It has been. It’s been painful as anything the past week with my kids being diagnosed with the mutation but they have a name for the problem, they have me, and scientific advances are made all the time. Would I have my daughter if I knew she would have autism? No question.

On the one hand genetically we are getting into things we have no business in. On the other hand, I have a name for my kids’ condition and a vague idea of what to expect. It saddens me as well because people hear the word “autism” and immediately judge that person’s life. No doubt if a genetic link becomes known people will abort for that reason and they will do it out of ignorance. Thank God I’m here for my kids to guide them differently

There are a lot of issues here, but the one I want to focus on is the idea of genetic markers for autism, a recent Cliff’s Notes version of which can be found in a post by Nestor Lopez-Duran at the Child Psychology Research Blog, also linked in Kristina’s original post.

What is sometimes called the PTEN (phosphatase and tensin homolog) gene has been explored chiefly in the context of cancer research, but PTEN mutations are associated with a wide variety of variations from normal development, including some variations that count as symptoms clustered in some cases of autism. In humans, these mutations are found on Chromosome 10; the homologue in mice are found on Chromosome 19. Four points about all this:

• PTEN mutations cannot be “genes for” autism any more than (a) they are mutations for many other conditions (including a variety of cancers), and (b) are many other genetic mutations that have some correlation with some characteristics of people diagnosed with autism
• nonetheless, PTEN (and other) mutations can be used to provide information about whether an individual has an increased chance of some set of symptoms associated with autism
• unfortunately, many of those symptoms are shared with a number of other conditions, diseases, and non-marked human variation, and it is at best unclear how predictive further developing and implementing screens or tests for these mutations will be of how these symptoms will manifest themselves in a particular case
• this, however, is unlikely to dampen parental, medical, and societal demands for such screens and tests.

Finally, a comment on one of the final points in the commentary on the post: “Would I have my daughter if I knew she would have autism? No question.” No question, now that your daughter has been born and developed over the years. But how sure are we that this answer would also hold up in a world in which prenatal screening for PTEN is used to inform parents about their fetuses? I take it to be part of what the author finds troubling is that the answer to the original question, in this context, is not clearly “No question”.