December 26, 1996 was one of the happiest days of my life — on that day my daughter, Emma, was born. Emma brightened our lives, but it was also fairly clear from a young age that Emma was different from other children. The problem, however, was that the differences were subtle and often dismissed by people who didn’t spend as much time around her as my wife and I did.
She was always very short and skinny for her age, and had a number of cognitive oddities. She exhibited delayed speech skills and received special assistance with that in school. By the time she was 4 or 5, it was clear she had attention deficit and hyperactivity disorder. The child was a non-stop fountain of energy, but frequently to little purpose. The first time we took her to a psychologist she spent an hour gathering toys and then methodically moving them en masse from corner to corner in the psychologist’s office.
We tried a number of ADHD-related drugs before settling on a Ritalin patch. That took care of some (thought not all) of the hyperactivity, but not some of the other cognitive issues. Frequently, for example, it appears as if Emma has a very limited concept of self and theory of mind. Her ability to infer intentionality in others is extremely limited, as is her ability to empathize appropriately. She is extremely friendly and chatty, but also tends to irrationally single out certain individuals for enmity. Disruptions in her schedule send her for a loop — some of the worst times we have are when she has a substitute teacher. She obsesses and fixates on things like tornados and spiders and alternately worries about them and/or wishes she could see one.
On the recommendation of her pediatrician, we had her tested for Fragile X early on, but that was negative. But recently after seeing a new pediatrician, we had more comprehensive genetic testing done, which produced a classic good news/bad news situation.
The good news was that we weren’t crazy or bad parents — Emma was diagnosed with partial trisomy of 16 p. As the letter from the geneticist put it, “Chromosome high definition of oligonucleotide array revealed a small duplication of chromosome 16p.” The CGH showed “gain of four clones at 16p13.3: RP11-243K18, RP11-334D3, RP11-358F6, CTD-2608C14.
The bad news is that CGH testing is so new, that Emma may be the first child ever diagnosed with this specific set of chromosome 16p duplications. As the geneticist put it, “Given the relatively new nature of this teseting, we were unable to find reports of children with the same size duplication as Emma.” There are certainly other children with 16p duplications, but they tend to have much larger duplicated material and also tend to suffer much more pronounced physical and cognitive problems.
So now we’ve added Risperdal — an anti-schizophrenia medication — to the mix, and that seems to have helped a lot with some of her more extreme oppositional behaviors.
