Another Trip to VCU/MCV for Genetic Tests

UPDATE: November 17, 2010

The tests results came in and Peter is, genetically, normal. Hallelujah!! Granted, this means we have no clue what could have caused the autism from a genetic standpoint but the fact that, genetically, he doesn’t seem to have any issues gives us hope that one day he may be able to overcome the autism enough to lead a “normal” life.

ORIGINAL POST FOLLOWS:

We saw Dr. Joanne Bodurtha again yesterday morning. She is head of genetics at the Medical College of Virginia and saw Peter and Nathan in 2006 right after they were diagnosed with autism spectrum disorders. At the time, genetic tests came back normal.

Since then, Peter was diagnosed with cranial synostosis so this visit¬† to Dr. Bodurtha involved another discussion of Peter’s various problems.

Just to be clear, synostosis has no known direct relationship to autism–however–kids with autism have a higher incidence of synostosis when compared to neurotypical kids.¬† Peter also has a wider than normal space between his eyes, ears that stick out and he sports a wider-than-his-siblings nose. (He’s still cute as a button but doesn’t quite look the same when compared to his brother and sister) Dr. Bodurtha suggested that Peter may have Saethre-Chotzen syndrome. The syndrome includes the above characteristics but frequently includes syndactyly (fusion or webbing of fingers) although syndactyly isn’t a requirement since it all depends upon the severity of the syndrome. Instead of syndactyly, a patient could have brachydactyly which is the shortening of fingers or toes. Peter does seem to have “stocky” looking hands and–especially–feet for someone who genetically should be more likely to have thin or skinny looking hands and feet like his siblings.

If Peter has Saethre-Chotzen it would not explain his autism. People with Saethre-Chotzen are generally of normal intelligence although some cases there may have mild retardation. This doesn’t seem to be the case with Peter. Peter seems to have normal intelligence but struggles with the problems associated with autism.

This time they will be testing for Saethre-Chotzen syndrome and we are also doing a more thorough genetics test going down to the DNA level. The last set of tests in 2006 was just checking for abnormalities on the chromosomal level. This new test will be much more thorough and will (I hope) let us know more.

It is also possible that we could raise more questions than answers.

Advertisements