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”.

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2 thoughts on “Parenting, testing, disability, autism

  1. How wonderful that you’re in a position to look back and say that. “Winning” my own fight with the Ontario government over their horrific plan to “care” for my autistic son feels more like “winning” a war. The trade off for his safety was my home, an F average on my university transcript, tens of thousands of (borrowed) dollars, and removal of every subsidy they’d given me.
    When I hear about people like conservative mouthpiece Ann Coulter screaming “human rights abuse” for getting kicked out of a speaking engagement in a country she thinks should be nuked, I want to vomit.

    My son is fine, though I am showing some stress symptoms over my ordeal, and I KNOW I need some legal advice. Thanks for reminding me that resistance was not futile. Given a choice to abort, knowing what I know now, the answer is still YES, I would carry him to term and do it all over again.
    “No question”? Maybe not. It’s still tempting to wonder what I might have done differently, what I might have been had the last eleven years not included him. But my own speculations about what could have been are drowned out by my sense of duty to my children. If that duty includes risking life and limb for them (and believe me, it has) then so be it. I’ll fight the province with my last dying breath to protect him.

  2. Prenatal tests are like looking into the crystal ball of the future and having the power, it seems, to change the future. Advances in testing both in the determination of what the fetus has and what it has a probability of having will be boundless. What is perfect anyway?

    Sometimes you need to cry in order to truly laugh. You need to experience stress to appreciate peace. You need to have seen black to know white. Such is life.

    My unborn baby was diagnosed with just about the worst thing ever; trisomy 13. They told us she wouldn’t likely live till birth, and then she’d likely die soon after. If she didn’t, she’d be severely disabled and maybe even blind and deaf.

    We continued the journey because for us, it had already begun and the off-ramps were not acceptable choices for us.

    Long story short is that Annie lived for 80 days after which time the medical system seems to have decided they would save us from ourselves and they appear to have put an end our journey.

    Those 80 days of Annie’s life were the worst of time and the best of our lives. We experienced more of every emotion one can have, both good and bad. In effect, we experienced more life and living then we ever had.

    Our baby’s ability to see and hear enabled us to appreciate those senses in a way we never had. The fragility of her life taught us the miracle of life itself in a way we had never realized or appreciated. Our love for Annie, despite her predicted limitations, allowed us all to feel more loved for our own limitations.

    We are left viewing life through a new lens; a better one. We now consider that Annie was perfect just the way she was. Her life was just not meant to be long that’s all, just as some flowers only bloom for a day. If human kind was like an ecosystem, we have learned from experience that it takes acceptance and appreciation of every life in order for a family or society to be healthy and well-functioning.

    We are of the opinion that those who quest for “perfection” have elected to take a frustrating and tragic journey that can never have a final destination.

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