David

I am so excited....which truly seems like an odd emotion based on the news I received today, but excited is how I am feeling, so I am going to go with it!

We have seen the spectrum of Doctor's, everything including developmental specialists, neurologists, neuropsychologists, developmental psychologists, pediatric epileptologits, and more......and the one thing that no one has been able to determine is what is the official diagnosis for David, and what is the cause of his issues......

Today we got the beginning of an answer!
In February we went to see the geneticist at Albany Med, Dr Darius Adams. It was an appointment that I didnt really want to go to, I felt it was a waste of time, but I decided that since we had waited months for the appointment, it couldn't hurt to go. The appointment itself was pretty brief. He and I discussed David's development since birth. He examined David and ran some urine tests and blood tests. I was told it would take about 6 weeks to get any results and to call the office to check in.

After calling for about a week, I finally spoke to Katie, one of the nurses, today. Apparently a genetic duplication has been found on one of David's chromosomes. At first Katie said that this may or may not be the cause of David's issues. As she explained this mutation is a pretty variable duplication, and it has some effects on some people and on others it presents with little or no effect developmentally.

As she looked up more information however it became clear to me that this has to be the way to explain David. This duplication is known to cause seizures, autism, speech delays and motor delays.....The consistent question for 5 years now has been "does david have autism" with the answer being "it really depends on the day you see him. He certainly meets a lot of the criteria for diagnosing autism, but an autism diagnosis alone doesnt describe David completely". The other question has been "does David have seizures", with the answer being " sure as heck seems like it, but his EEG is not clear".

Essentially, knowing that there is a chromosomal issue allows me to put all of this into a little package, and gives me an answer to the question that I have struggled with. I have always felt that there had to be a way to explain all of the things David struggles with. This chromosomal error gives us that explanation.

Whether there is a way to treat it or not, and whether it will help to predict the future or not, I have an answer.....I have a path to follow, and tonight I will sleep more soundly!

As a parent I have struggled for more than 6 years. I have been to doctors I have loved and doctors I have hated! I have had people doubt what I see in David, and people say that it is time to stop looking for a diagnosis. I am the kind of person who needs an answer. I can deal with anything, but I like to know what I am dealing with.

I am looking forward to meeting with the geneticist in a few weeks to learn more about what this duplication means for David educationally, socially and for the future...