Breakthrough?

09.14.12

As Scientists Race to Diagnose Babies, Autistic Kids, Families Suffer On

Researchers in Australia say they may be close to a genetic test that identifies the disorder in infants. But can anyone help my 16-year-old who’s hurting now?

In the novel, Wonder Boys, Michael Chabon wrote the memorable line, “It’s always been hard for me to tell the difference between denial and what used to be known as hope.”

It’s hope, and maybe a little denial, that keeps me reading the news about new medical research into autism with an interest bordering on obsessive.

Danny, my 16-year-old son, was diagnosed with autism 13 years ago, and, like most parents of children with autism, I’m just looking for something that will make his life better and easier. And there doesn’t seem to be much on the horizon.

A new study released by the University of Melbourne this week says that researchers may have come up with a genetic test that will predict whether babies or young children will develop autism.

Another day, another study.

This one is too late for Danny. So much of the research is into the genetics of autism. This means that while some of it will be used to predict which young children are at greatest risk of developing autism, the ultimate goal will probably be to develop a prenatal genetic test that will show which fetuses would have autism.

There are enormous commercial rewards open to anyone who could invent such a test, and understandably so. Autism, which is diagnosed in 1 in 88 children born in the U.S. (according to a report released by the Centers for Disease Control and Prevention in March 2012), creates a great deal of stress and misery for the families whose children are affected. While some on the high-functioning end of the autistic spectrum blog about how their condition is just a form of eccentricity, those on the lower end often cannot talk at all and have difficulty expressing their needs, desires, and fears. Some will never be toilet-trained. Others engage in frequent self-injurious behavior—a nightmare for parents. Sleep disturbances are common. And while the high-functioning bloggers may disagree, it’s hard to find the blessing in a condition that prevents so many who have it from making any long-term, meaningful decisions about the direction of their adult lives.

I frequently visit the Facebook page called Single Mothers Who Have Children With Autism. When I became aware of this page in April, about 14,000 people had clicked “like” on it. Now that number is nearly at 30,000.

Many of the mothers on this page ask for others to pray for their children and the two most common prayers are that their children (and they) can get a good night’s sleep, and that their children will stop hitting and biting themselves.

I can understand that it would be a blessing to get earlier diagnoses of autism through the use of a genetic test that would predict who would develop it, and I understand as well those mothers who would choose to take a prenatal test for autism.

I wish, though, that more money, time, and energy were going into treatment for those who are already born and diagnosed, and not just identifying babies at risk.

The treatments that exist are pitifully inadequate for such a common and all-consuming condition. There are drugs that mask some of the symptoms of autism but do nothing to treat the core deficits in language skills and social abilities. And the two main forms of therapy available, Applied Behavior Analysis (ABA) and Floortime (also known as the Greenspan Method) did nothing to help my son. Danny, like other children I have known, deteriorated rather than flourished when he received ABA therapy, even though all the data his therapists took showed that everything was going well. And he is so hyper that no Floortime therapist was able to engage his attention for even 10 seconds.

I know many parents are nodding their heads here. We love our children, more than we can say. But the frustration of not being able to help them as much as we would like to is heartbreaking.

And the truth is, children with autism are so different from each other, it’s very hard for me to believe that a single test could ever reliably identify all of those with it. Danny is what is considered medium-functioning. This means that like virtually every human being on the planet, he is good at some skills and weaker at others. He began speaking at a normal age, and never stopped. He talks incessantly now, but what he says often doesn’t make sense. Extremely affectionate and interested in the people around him, he has developed lasting friendships with therapists who have worked with him, neighbors, storekeepers, an elderly couple who sit on a bench near his school, and so many others. He loves, and knows a great deal about animals, cars, music, and geography. He is very attached to his (non-autistic) younger brother, whom Danny teases as much as he can, calling him “baby” and “doll.” But Danny is so hyper that any learning is extremely difficult for him. While I would happily give him Ritalin if it helped, it makes him so anxious that he actually can’t function. And he is so high-strung that he is given to fits of rage in which he lashes out and pinches people, mainly me or some of his teachers.

We love our children, more than we can say. But the frustration of not being able to help them as much as we would like to is heartbreaking.

While it doesn’t seem far-fetched that there is a genetic basis for Danny’s autism, since he has a first cousin who is also autistic, the two boys are very different. His cousin rarely speaks or engages others at all, and at age 11 will still wander off from any apartment or space that isn’t locked. And these two first cousins have a second cousin who has Asperger’s. Could one test have predicted that these three very different boys would develop autism spectrum disorders?

Danny loves to sing Beatles’ songs, although he sometimes gets the lyrics wrong. Recently, he sang, “It’s been a hard day’s life.”

I would be overjoyed if scientists were to come up with something that would make our family’s “hard day’s life” easier.

So out of love for him, I’ll keep reading each study that comes along with a skeptical eye, but also with hope.