Longform

The Scarlet Letter

Page 5 of 11

I had been associating the whole denial thing with the lack of a medical diagnosis, but the interesting fact about Sophie Fisher is that she's one of the few autistic kids out there who does have a medical explanation for her condition. She's got Fragile X, a genetic syndrome that affects the 23rd chromosome. It results in mental retardation and, often, autism. The Fishers didn't know Sophie had Fragile X when they agreed to adopt her; they knew her mother was a carrier and assumed she would be, because commonly, Fragile X is passed from mothers to boys. It's very unusual for a girl to have it.

A genetic condition is responsible for Sophie's autism, and the Fishers aren't responsible for Sophie's genes. Maybe that's why Cheryl clashes so often with other parents on the autism support message boards. She goes nuts over the parents whom she says spend all their time looking for a cause — and a cure — for their kid's autism, worrying about vaccines, she says, to the detriment of the health of their own kid and other kids, not to mention the time they miss just being with their child. Cheryl shared one of her posts, which read in part:

You know what? I don't CARE that a gene made my children "different"; in fact, I know it DID! (We have genetic results to prove it!) I would LOVE to know: has YOUR child been genetically tested? Do you know FOR SURE your child DOES NOT have Fragile X, or might that possible reality just be too scary to explore? Can you even consider that, regardless of the centuries old "mess" we humans have made upon our world, that you, in fact, may be the partial cause for your child's disability?

With all the talk about "causes" and "cures", maybe the thing that needs to be said — and sadly never is — is simply this: WHO CARES!? Your child has Autism. Maybe they have a genetic disability that, if you had them checked, you might know about, too. This might be helpful for your child as they grow up and maybe plan their own families someday. Maybe someday you might find your cure. I hope, for your sake, you are successful. Me? I'll love and accept my children as they are, thank you very much. They are each special in their own way and, hell, if they were "perfect" — you know, "blonde hair, blue eyed", in ways others once thought an ideal race should be — then my husband and I would not even have them. Their own biological parents would have kept them, and maybe everything would have been "perfect" . . . for them.

. . . Some of us do not want to "cure" anything — we are simply content to live our lives, and to assist our children to live as best they can. We live in an imperfect world, yes, but not everyone believes the world is out to get them. Please, let's be careful to remember that some subjects can be best addressed by those who live them — and that some people are simply not where you are. That does not make us wrong — it makes us different. Genetically, emotionally, intellectually, biologically — it's all different, and it is ALL OK. Just some "food for thought" from a different thinking mom.


Cheryl Fisher makes some very good points, but the truth is that she has her medical explanation. Most parents do not. And yes, it drives them nuts, trying to figure out what it all means, and what could have led to their kid's condition. Whether it's about putting those demons to rest, offering a clear-cut diagnosis that will force parents out of denial, or even ultimately finding a pill that will "cure" autism, the medical race is on to find the genetic cause of autism. And many experts do agree, at this point, that almost all autism is based in genetics, meaning it is inherited.

The story about the people and the science intersects here. In March 2005, there was a big ribbon-cutting ceremony for the building in downtown Phoenix that houses the Translational Genomics Research Institute, or TGen. That name is a big mouthful of gobbledygook, and so were the explanations of TGen I read in the local press at the time. I couldn't get my arms around what genomics research really meant, not until I sat, a year later, in the office of Dr. Dietrich Stephan, the director of Neurogenomics at TGen and the head of the autism research program.

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Amy Silverman is a two-time winner of the Arizona Press Club’s Journalist of the Year award. Her work has appeared on the radio show This American Life and in the New York Times, the Washington Post, Lenny Letter, and Brain, Child. She’s the co-curator of the live reading series Bar Flies, and a commentator for KJZZ, the NPR affiliate in Phoenix. Silverman is the author of the book My Heart Can’t Even Believe It: A Story of Science, Love, and Down Syndrome (Woodbine House 2016). Follow her on Instagram (@amysilverman), Twitter (@amysilvermanaz), and at amy-silverman.com.