The Scarlet Letter

Sophie Fisher is autistic. Her mother isn't so sure she wants you to know

. . . 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.

Sophie Fisher
Martha Strachan
Sophie Fisher
Martha Strachan

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.)

I toured the lab, which looked very impressive in that scientific kind of way, and Stephan gave me some tiny plastic containers that held genetic samples used in an Alzheimer's study. But what was really impressive was the study he handed over; it had just been published in the New England Journal of Medicine. The title: "Recessive Symptomatic Focal Epilepsy and Mutant Contactin-Associated Protein-like 2."

Now, that is a mouthful. What it means is that with the help of the Clinic for Special Children in Strasburg, Pennsylvania, Stephan and his researchers gathered DNA samples from several children who all had the same form of autism: a very severe form, accompanied by a horrible form of epilepsy. The seizures in these children are so bad that at times, Stephan says, the treatment is to remove half the patient's brain.

Through this study, the TGen researchers identified one particular gene that, when damaged, they say will cause this condition 100 percent of the time. That was a huge discovery. But it accounts for just a tiny fraction of the cases of autism out there.

And it won't necessarily lead to a cure. The day I met with Stephan at the TGen laboratory, he was very cautiously optimistic and visibly uncomfortable when I asked him just what this would mean. Naively, I was thinking it would lead almost immediately to the development of a magic cure-all pill.

No, he said. Not yet, at least. "Every time I say the cure word, I sort of stumble on it," he said. "I don't know if it's ever going to happen, I don't know when."

I pushed him with questions about what the discovery meant. Stephan looked pale, maybe from the pain in his knee or the fact that he knew I had a child with Down syndrome (and had obviously not chosen abortion, although he doesn't know the story's more complicated than that), and finally, he admitted that, no, there was not going to be a cure for autism, not anytime soon at least. But you'd know before the child was born, he said, and therefore would be able to "avail yourself of reproductive options."

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