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The Scarlet Letter

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The kids tumble off the bus and deposit their backpacks at the front door. It's obvious at first glance that Madeline has Down syndrome. Cheryl always has to laugh, when she talks about her younger daughter. One of the hallmarks of Down syndrome is a cheery disposition, but apparently no one sent that memo to Madeline, who her mother says can be downright mean. Cheryl laughs about it — she clearly adores Madeline, who does, in fact, walk in with a scowl on her face, eager to get to the kitchen table and her Wiggles coloring book. Neither Zachary nor Sophie appears "special" in any way, although it does become apparent, when she joins her sister at the table, that Sophie has some challenges. Like many autistic kids, she doesn't usually meet your eye. Like her mother said, she is out of sorts, inconsolable in a quiet way — wandering in and out of the house, from the backyard to the kitchen. Madeline finally cracks a big smile, pumping high on a swing just outside the arcadia door, instantly smudged from so many exits and entrances. The kids interact, but not much. During my visit, there are no big meltdowns, no temper tantrums. Just lunch, and several sippy cups.

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.

TGen is a big deal. Last week, the news of the institute's discovery of a link to the cause of ALS, or Lou Gehrig's disease, made national headlines, and within science circles, TGen, Stephan and his colleagues are held in high esteem.

Isaac Kohane, an associate professor at Harvard Medical School, co-director of the school's Center of Biomedical Informatics and a pediatrician by training, calls Stephan "a colleague and a worthy competitor."

Stephan is a sweet, baby-faced man, who, when I met him, winced a lot. He'd just had knee surgery, following a skiing accident. But he was at work, which is where he admits he usually is, racing the clock to find the genes that cause not just autism, but a list of other medical conditions: Alzheimer's disease, Lou Gehrig's disease, cancer. It can be a real downer of a job, except that in the past several months, TGen has had enormous success in identifying genes. (Here I must disclose that my father is on the board of directors of TGen, something I didn't know when I embarked on this autism story. He's no scientist — everything I've told him that I've discovered, in the course of writing this story, has been news to him.)

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