Wednesday, February 13, 2013

Monday, February 11, 2013

My Grandpa died on Friday

He was 81. His heart had been failing for the last five years, and his
kidneys for the last two.

I remember that he worked a lot, not only at his business (he was in the concrete business) but also on various projects around the house, shed, or garage. He was always making things. I remember that he
smoked a lot. Growing up, I don't remember seeing him without a cigarette, unless he had to be somewhere smoking wasn't allowed. Then he found reasons to go for long walks. After dinner, he would sit in his favorite chair in front of the TV with a book in his lap, and fall asleep. His snore sounded like Grandma's old-fashioned percolating coffee pot, but loud enough to be heard through walls and from one end of the house to the other.

I remember how much he loved passing out the presents on Christmas morning. I remember that he took me fishing, and taught me how to cast at the proper angle for maximum distance. He had a deep voice, a gruff manner, and a loud laugh. He would say amazing things, and give us funny nicknames, and you had to watch his eyes to tell if he was joking. These things made my sister afraid of him when we were little, but filled me with a feeling more akin to awe. I remember him on holidays and at family reunions and picnics, eating, smoking, drinking, laughing, and swearing. He wasn't safe, but he was good. And I loved him.

For all who have died in the communion of your Church, and those whose faith is known to you alone, that, with all the saints, they may have rest in that place where there is no pain or grief, but life eternal,
we pray to you, O Lord.

Monday, February 4, 2013

We finally have a diagnosis!

The day after GL turned sixteen, we finally got a diagnosis. He has a chromosome 17 q12 x1 dn microdeletion. This doesn't change the fact that he has autism, but 100% of males with this deletion have autism, so the genetics clinic considers the chromosome disorder to be his primary diagnosis, and autism to be a feature of that disorder. He was part of the first study linking this disorder to autism, but now there is enough data in to confirm it.

This doesn't change our expectations or plans for him, but it is strangely reassuring. In his particular case, we know that autism is the result of a missing gene, not an environmental factor. It wasn't anything we did. It is also a de novo deletion: we both have the piece he is missing, but God chose to leave it out when making him (some would call it a random mutation) so he didn't inherit autism from us. That also explains why his brother does not have autism, and relieves our fears that this was a factor in any of the miscarriages.

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