Saturday 18 May 2019

My Week As A Pin Cushion


What a week!

Along with the usual work/Para Transpo/home care routine, and a JS Board meeting, I had two doctor's appointments which ended with a total of three needles!

Monday, I had a follow-up with my geneticist. She was about 90% sure she had zeroed in on my causative gene (as related to the Joubert syndrome), but she wanted to clear up that last 10%.

One way of doing this was for me to give a skin sample through a biopsy. I've had people asking me to do this for the past six years at Joubert conferences, but have always refused. For no reason at all, I offered to do it this time.

The first needle of the week was to freeze part of my right arm, so a chunk of flesh could be cored out of my arm, then dropped into a sterilizing solution. With all the preparation for it, the biopsy was more tense than painful, but now I have a better understanding of the less-than-happy reactions of the younger kids to the procedure when it's done at the conferences.

The next needle was a blood draw that was part of a new test the Genetics clinic had begone to use. The test was fairly new (I was the first person to have it done), and involved them looking through RNA, rather than my DNA (<< major over-simplification). They needed two vials of blood from me that were then mixed with some kind of solution that turned it jet black. Hope to hear results soon.

The third and final needle was a pneumonia vaccine given to me at a respiratory check-up.

I hadn't seen my respiratory specialist in over a year, and in that time things had gotten bad. Part of it was from being sedentary at work, but a lot of it was just from me getting lazy and complacent. My breathing test this time was pretty bad, and my doctor was concerned, he put me on some medication but mostly told me to be more active. He also advised me to get a pneumonia vaccine. He's offered it to me before, and I've refused because I don't care for needles. But this time, because of a bout of pneumonia I had in the Fall, and a nasty bug going through my house, he pretty much told me to get it. Sort of like a flu shot. A little pinch and tenderness, but okay.

Very crazy few days, but no pain, no gain, I guess.

Cheers