Answer to Autism Lifts Parents' Faith, Chromosome 15q duplication syndrome

Article that a friend sent to me by: Mike Porath

I will never forget the phone call. My wife put the doctor on speakerphone. We sat down and shared a hard look across the kitchen table.

"Well, we did find something unusual. It wasn't anything we were looking for. Your daughter's 15th chromosome has an extra part to it. It's duplicated. She has 47 chromosomes."

For two years we had visited doctors up and down the East Coast looking for answers. Annabel, a few months past her second birthday, still couldn't walk, spoke just a few words and rarely offered us a smile.

Our doctor was blunt. The extra chromosome meant that Annabel would never be normal. Her mind would never develop beyond that of a small child. I don't remember exactly what he said, but that is what I heard.

We stood in the kitchen, hugging and sobbing while Annabel slept peacefully in her crib upstairs. It was a heartbreaking moment. I never would have imagined that a year later I'd look back at it as such a positive moment in my life.

We were lucky. We got an answer. Most parents of autistic children never do.

Courtesy of Mike Porath and Annabel and Isaac Porath

The Link Chromosome 15q duplication syndrome, though not well known, is the most frequently identified chromosome mutation in people with autism.

"This is just now coming on the radar," said Dr. Carolyn Schanen, a leading expert on the disorder who heads the Nemours Human Genetics Research Lab at in Wilmington, Del. "This syndrome is underdiagnosed. Many doctors simply aren't aware of this, even geneticists."

She said recent studies show up to 3 percent of autism cases are linked to abnormalities on chromosome 15: "It's clear there is a major association here." Autism Speaks, an advocacy and support group, estimates that 1.5 million people have autism spectrum disorder in the U.S. alone. Even if the number isn't quite that big, it's likely there are tens of thousands of affected children whose parents don't have the answers they should.

So why don't they? For one, doctors aren't likely to run tests on chromosomes for kids who look normal. Most people with chromosome abnormalities, like those with Down syndrome, have physical traits that give away their disorders. Annabel, like many others with dup15q, masks as a typical 3-year-old; she's cute as a button and never raised eyebrows among any of the geneticists we met with.

Second, older genetic tests aren't nearly as sensitive as the new ones. "Microarray has blossomed in the last two years," Schanen says. This relatively new technological method of analyzing gene expressions can better pick up interstitial duplications -- those that stay attached to the chromosome rather than breaking off completely.

Third, it's a relatively new diagnosis. In 1994, a woman named Donna Bennett wrote a letter to a magazine about her son Joshua's rare disorder. Four other families with affected children responded, and a support group was born. Fifteen years later, IDEAS (IsoDicentric 15 Exchange, Advocacy & Support) now has nearly 500 families worldwide. About one-quarter of these families has joined in the past year alone.

Our Future
Within an hour of the doctor's call, my Google search landed on the IDEAS' Web site. Reading the profiles of other dup15q children was difficult. No doubt, this was the disorder that Annabel had, but most of these kids were in worse shape.

Like most of the other affected children, Annabel had low muscle tone. That's why she wasn't able to walk independently, why she couldn't manipulate her fingers well enough to pick up small objects. Our daily therapy sessions would get us through this, we thought.

But there were some surprises. About half of the dup15q kids hadn't spoken a word. Most were on the autistic spectrum. Most had seizures, some of which were controlled by drugs but others that were completely debilitating. And all, it appeared, were to some degree or another "cognitively delayed," a nice way of saying mentally retarded.

The future did not look bright, but I couldn't help but find encouragement from the voices of these kids' parents. They were proud and strong, light and funny, honest and real.

If they could deal with this, why couldn't my wife, Sarah, and I? It didn't take long for all of my built-up guilt and anger and frustration to fade. We finally had an answer. Her chromosome disorder was totally random, no one's fault. We understood Annabel in a new way.

Hearing her sweet little voice singing the alphabet became so much more special when I realized how blessed she was to have the ability to speak. And I didn't mind it so much when she repeated her favorite words like quesadilla and microwave over and over and over again.

Our biggest challenge now is balancing optimism with realism -- hoping for and expecting the best while understanding that Annabel faces very real obstacles. We've talked about all the ways we want her to thrive, and they seem to come back to two things: happiness and independence. Our goal as parents is to give Annabel as much of those two things as possible.

I don't believe in fate or that things happen for a reason. I believe that everyone is given opportunities and that what we do with those opportunities determines our character. Annabel is a huge opportunity. Way bigger than I'd ever thought I'd have.

And oddly enough, it was science that helped me find that faith.

Learn more about dup15q and autism and check out the video below to see the IDEAS on you tube