It's a whopping 1 degree outside. A degree warmer than it was yesterday morning, but there are at least 3" of snow on the ground outside, and who knows what it feels like with the wind chill factor. It's the 3rd day in a row that the schools around here have been closed.

We're still keeping somewhat busy, though. Yesterday, Matthew had a 9 am appointment at the Genetics lab at Children's Hospital. It was part of his medical testing ("etc.") after his diagnosis. Luckily, all has come back normal so far- blood tests, chromosome, etc. The only thing that was off slightly was his immunoglobulin levels, which means his immune system is maybe a little weaker than normal, but it's nothing too serious.

[The more interesting part of his appointment yesterday was the disclosure of medical history- mostly mine- and how the doctor asked me if I'd ever heard of Fabry Disease. (Why no, I haven't). I had mentioned all my weird "neuropathy" symptoms, and all I've been tested for recently, and all I've been experiencing over the past nearly decade now. She was curious to know more about it, then looked over at her assistant who took down our medical history, then asked if I'd heard about this rare disease. Apparently it's mostly seen in men, but can occur in women, though I guess usually in milder forms. Check out some of these interesting symptoms:

* Pain
* Impaired sweating
* Exercise intolerance
* Skin rashes (angiokerotomas)
* Corneal whorling
* Gastrointestinal problems
* Heart problems
* Kidney problems
* Nervous system problems
* Psychological and social issues

From reading I've done, the pain could be pins and needles in the hands and feet, or other parts of the body. The skin rashes do not necessarily itch. The corneal whorling does not affect vision, and is only seen in a special exam. Etcetera, etcetera. "Many of these symptoms are also common to other diseases, which may lead to misdiagnosis. In addition, people with Fabry disease may have all or only a few of the typical signs and symptoms. They may also experience different symptoms at different times throughout their lives."

Now, part of me thinks it was irresponsible for the doctor at Children's to suggest something like this to me. Maybe she was just being helpful, but it's odd that this particular disease popped out in her mind. She asked if I would mind her looking at my files at the Neurologist's office. I signed a consent form, because you know what? If somebody (ANYBODY) can figure out what the hell I have, they can knock themselves out!! She did tell me it just takes a simple blood test, and to ask the neurologist next time I'm there if she would mind having blood taken just to rule it out. I don't know if the dr will do it, but we'll see.]


SO then Matthew had his first speech therapy appointment. It actually went quite well. And apparently Matthew had a great time and acted like a typical 3 year old boy (except probably more polite than most- he says please and thank you AAAALLLLLL the time). The therapist is really curious to see the psych evaluation on him with the Autism diagnosis, because at least during their first visit together, she doesn't see how he has Autism. LOL (Sure, I can see how that's a good thing).