In March we finally had our Neurogenetics appointment. This was one of the things on the list that Dr. Davoli recommended that we do in terms of testing, and quite honestly, we had no idea what to expect from this appointment. I
felt like we were meeting with the entire department. Dr. Naidu comes in and she’s followed by her entourage. She’s a small, seemingly elderly, Indian woman with a gaggle of medical students feverishly writing notes as she talks. We meet with her in an incredibly tiny room where she looks him over, noting his slightly pointed ear, his nose that doesn’t appear to match either of our noses, small potential clues of a genetic disorder. She then combs through his MRI. As she’s reviewing it with her medical students, I can’t help but notice that she’s pointing something out to them. She’s noting that she sees delayed myelination which is physical evidence behind his global delays, delays not just apparent in his speech and communication skills, but his gross and fine motor skills as well.
The rest of the appointment is spent talking with one of my favorite members of Mark’s medical team, Sonal. She’s an incredibly bright, caring and efficient genetic counselor who has been assigned to Mark’s case. She explains the genetic testing that they would be doing that day, including blood analysis to check for things like Prader Willi, Fragile X and a few other genetic disorders known to cause autistic like symptoms in children.
The odd thing about the entire appointment is that no one seems overly concerned about his autism diagnosis. The word wasn’t even mentioned. They just want to figure out what happened at the cellular or mitochondrial level that could explain what we’re seeing. And if they can find something,they can tailor the treatments and therapies to that particular gene expression or abnormality. We then discuss Whole Exome Sequencing. A more sophisticated, most advanced way to determine problems in the genes, and propensity for particular diseases and disorders, like cancer and diabetes. We decide to move forward with this level testing and the results will be available in six months.
Our appointment is September 8th and we are praying that the results will be in by then, if not, Dr. Naidu’s next appointment is in March…