Bittersweet

I started this blog as more or less an outlet. A way to keep people informed who wanted to be informed and provide consistent information regarding Jackson's health. Yesterday one of my co-workers passed the link on to another co-worker who, after reading the postings noted great similarities between Jackson and his nephew who was just diagnosed with Angelman Syndrome.

With this information in mind, I quickly hopped online to check out the details of Angelman Syndrome. When I read the description of symptoms it seemed eerily too familiar. Not able to leave any stone unturned, I winged off an email to Dr. M and our Genetic Neurologist, Dr. R. Shortly afterward, there occurred a flurry of phone calls and much discussion.

During our discussion last night, the neurologist was careful to point a few things out; Firstly it is rare to diagnose a child below the age of three. Secondly, the symptoms he has are also markers for about 500 other neuro-genetic disorders. And thirdly, 10% of patients diagnosed with Angelman syndrome do not have the gap in Chromosome 15 which is what the genetic testing is meant to determine. So in theory, Jackson's results could be negative but he could still end up being diagnosed with Angelman syndrome, although it wouldn't likely happen until he was older.

So today, I am taking Jackson to the Hopkins lab for a blood draw to test for this rare neuro-genetic disorder. The results of which won't be available for several weeks. But by now, we've gotten pretty good at the Hurry-up-and-wait game.

As time goes on, there is more and more evidence that Jackson's developmental delays are not just a result of multiple hospitalizations. The doctors are now more convinced that there is almost definately a neurological disorder/syndrome which would account for his delays. But finding out which disorder/syndrome he has could take years.

So all in all, it is bittersweet. A possible answer to all our questions. And while it is certainly not the answer we were hoping for, we remind ourselves it could always be worse.


To learn more about Angelman Syndrome visit:
http://www.angelman.org/angel/index.php?id=75

http://en.wikipedia.org/wiki/Angelman_syndrome