New Genetic Finding in Autism and Its Impact on Families

I found several things interesting about this finding. One is that of the 1500 families studied, there were no two families that shared the same combination of genetic variants. This would explain why autism manifests itself so differently in each person. Being a parent of both a boy and a girl with the same diagnosis of autism, I see this first-hand; but, we must always remember that with any disability we are dealing with a unique individual. The diagnostic label must not cloud our thinking in making decisions about what is right or suitable for each person.

For example, my son Marc is in a segregated classroom setting but my daughter Julia is fully integrated. Marc used PECS as a communication system before he could speak; Julia used sign language. Marc’s occupational therapist was not a good fit for Julia so I had to find another one. In each case, personal circumstances, personality and learning styles had to be examined. One size does not fit all diagnoses and yet I still “blanket” treatments being applied. (This is reason I am against a national autism medical protocol which supports only one kind of therapy.)

One statement made in the article by senior scientist Dr. Scherer that has me worried is the possibility of a mail-order genetic test that scans for autism-related genes. I can definitely see this as probable because autism is big business. Dr, Scherer says he gets e-mails every month from US companies looking for markers in autism. I find this a scary prospect because this type of genetic information will be difficult to interpret the outcome for an individual. I see and hear from thousands of families and so much of a child’s outcome depends upon the dynamic of the family unit, education, therapy, and community support.

I can see a positive side to a genetic test because this could mean earlier diagnosis with more accuracy. When my nephew with Down Syndrome was born, the family received support and services from infancy. I spent two years seeking a diagnosis for Marc. He was not thriving, slept very little, cried all the time, and was missing developmental milestones. I was suspicious of something when Marc was ten months old but my GP told me I was a panicky first-time mother. I hear many stories, particularly of families with those higher functioning kids, of struggles in every regard yet there is no support for a child who had an average to above-average IQ. We have to look at more than intelligence when it comes to functioning and well-being.

Earlier diagnosis would be a plus for all families. For these children to have success, the families need services. Mothers know when something is not right with their children and to be turned away when seeking help is so disheartening. We still underestimate the impact of mental health issues on the family unit when a child is struggling. And what about the child? How long should they be left to cope?

I will watch with great interest how this new discovery will play out. It may lead to other discoveries in the field of autism. What I do hope is to see an eradication of quack science in autism as more solid evidence of the markers of autism, causes, and best practice treatments is found.