Genetic testing

Two years ago in 2009 we started our journey for diagnosis by doing genetic testing. This is the story of what we found.

When I told our pediatrician that we wanted to find out if Adrian had autism he said Susan I have seen other children with autism throughout my career and if Adrian is autistic he would be high functioning. I did not argue with that, but knew something was not right and if this was it Adrian, my husband and myself had the right to know.

The next step was looking for genetic abnormalities. Adrian had blood drawn first. Two and a half weeks later we found out that Adrian had Chromosome duplications in 7q and 12q. Because these were rare the genetics lab wanted to see if they were spontaneous mutations or hereditary mutations. My husband and I had are blood drawn then. Another two and a half weeks and we scheduled an appointment for evaluation.

There at the genetics lab I found out that I was the gene mutation carrier. We went through family history and the genetic counselor took Adrian’s measurements. We were also notified that his fragile x test was negative. Also my husband has know known genetic disorder.

The lab told us that because they did not have a single other family with these chromosome issues there was little they could tell me about what kind of affect the chromosome duplication would or could have on Adrian. They did say that it was possible that Adrian’s delay in speech and learning might be caused by the chromosome duplication. So I had the first piece of the puzzle!

When our pediatrician reviewed the report he said we could have Adrian tested to see if a spectrum disorder was present. The next step was to schedule a parent visit with the clinic our pediatrician referred us to. The clinic only sees parents on the first visit. I was not sure what to expect from the first visit. My husband and I went in ready to answer anything. Basically the appointment was a fact finding mission on the Doctor’s parent and a list a mile long for me of every important factor about Adrian and medical history of both my husband’s and my family. We left that appointment in high spirits that we would finally have answers.

In a couple of weeks Adrian would go in for his four hour evaluation. The psychologist said upon first meeting he thought Adrian had Cognitive Impairment. After working with Adrian he assured us he was not Cognitively Impaired. A Occupational Therapist, a Speech Language Pathologist and a Social Worker also evaluated Adrian.

After the evaluation we waited for about six weeks to get the report. Those were the longest six weeks of my life! We did a telephone consult and downloaded the report from PDF. My husband and I did not want to drive the 45 minutes back to the clinic to get results. I read through the report and I was crying instantly! There were my answers. The results said Adrian had PDD-NOS, and mood disorder. After that I spent my days in grief, reading every thing on Pervasive Developmental Disorder Not Otherwise Specified and Autism in general. We were aggressive in trying to get Adrian into Occupational Therapy outside of school and find other things that would help him. We used a neoprene vest, chew tubes, a tangle jr., puzzles with lights and sounds, lacing boards and a lot of other things to help him be successful. I have always used counting as a method with him. He Is fascinated by numbers and they help to soothe him. We also you deep breathing, pressure massage, jumping, walking and most recently yoga to help him calm and self regulate. We used to have four to five meltdowns a day or more. Now we may go an entire week without him having a tantrum at all. It depends on how we prepare him for any given situation. He no longer does Occupational Therapy because of insurance issues but I hope to get him into a social playgroup this summer. We have come a long way since diagnosis, but there is far more to go still I am hopeful!! I wonder though what teenage years will be like for our boy. I know they most likely will not be easy. It has not ever been easy so I am expecting the worst well hoping for the best. I think that can be said for most parents whether their child is special needs or not.

For more information on chromosome disorders I found the following website to be very informative:

http://www.rarechromo.org

These are more detailed links for the site one is a book on different chromosome traits and the other is information specific to chromosome duplication.

Click to access LittleYellowBook.pdf

Click to access 7q%20duplications%20FTNW.pdf