Monday, July 21, 2008

The Power of a Diagnosis

When we got the news that our day-old baby had Down syndrome, we were completely shocked and not a little bit frightened. At the time, it felt like the entire world had shifted, and it took us a while to adjust to the idea.

But there was no question of whether the diagnosis was in error. Not only were a few of his physical features clues, but the hospital staff drew some of our son's blood for a karyotype, which indicated that Josh did, definitely, have Down syndrome.

Once we knew what we were dealing with, we and a team of medical professionals were able to discuss how to proceed. After Josh got out of the hospital, and indeed, throughout his childhood, we worked with professionals who had experience helping people with Down syndrome. All this because we had a certain diagnosis.

Over the years, it's occurred to me many times how fortunate we were to have that exact diagnosis, even though it was difficult to hear when we were first told. We know of others whose children have disabilities, but they were not noticeable at birth, and were only diagnosed after a long, painful time period during which the parents suspected something was wrong but didn't know what it was. In a couple of cases, there is still no official diagnosis, just the observation that something is wrong.

One particularly difficult diagnosis is autism. Generally (though not always), the signs begin to appear at around 18 months of age. In some cases, the toddler actually seems to regress. How painful for the parents!

There is no blood test that I'm aware of for autism, no spare or funky-shaped chromosome to blame. But now that people have become aware of autism, there has been a much-discussed increase in the rise of cases of autism, and also something new: children on the "autism spectrum."

Thomas Sowell, author of Late-Talking Children and The Einstein Syndrome: Bright Children Who Talk Late, recently wrote about the possibility that a child might not be on the autism spectrum, but instead is simply a very bright child who is also a late-talker. According to his article, this is a common combination in young children, particularly among boys.

As Dr. Sowell points out, enough of these children exist that a diagnosis of autism spectrum could be wrong. His concern is that the money the government spends to help autistic kids could be going to some kids who have been misdiagnosed, thus leaving less help for those who truly do have autism.

I can see where this could be a controversial subject among parents of autistic kids, and medical professionals as well. And my heart goes out to those parents whose children seem to have a problem, but have no official diagnosis.


Marbel said...

I can see how having a diagnosis might give some level of comfort, if only to help in knowing how to proceed. Knowing something is wrong, but not knowing what it is and thus, how to deal with it, is so difficult.

Janet said...

My bro-in-law has autism, it was diagnosed when he was about 3. Of course, he is also mentally and physically handicapped, so it was difficult to know for sure if he was autistic too. He is amazing in some ways. For instance, he can add numbers like you wouldn't believe, and he can remember every person's birthday in the entire family. (and it is LARGE!) :-)

Alasandra said...

My eldest son (the one who started college at 16) was a late talker. He was around 2 when he started talking in complete grammatically correct sentences no less. Apparently he was waiting until he had all the rules figured out (LOL).

But numerous people tried to convince me there was something wrong with him. Luckily I had a very smart pediatrician. He knew Jonathan could hear and understand because he would tell Jonathan to do something and he would do it For example he would say "Jonathan bring me the yellow block". That told him that Jonathan knew his colors, knew what blocks were and understood what was wanted. So he told us not to worry about it.

Barbara Frank said...

Marbel, I think the hardest part must be wondering how it happened, whether you did something wrong in pregnancy, etc.

Janet, autistic people have some awesome gifts, don't they?

Alasandra, how frustrating to have to convince people your son was ok. Good thing you know how to pick a pediatrician :)