Wednesday, August 23, 2006

So, the recent weirdness in the Uru community has had the unusual effect of actually starting to heal some rifts rather than cause them. I'm all for that. I'm still not letting my guard down in certain quarters though. While I'm fine with hatchet burrying, I'm not to 'trust', by any strech. Especially when the assessment that people in my 'lifestyle' are selfish 'me-first' people, and that sort of additude is the cause of the community's problems is still pinned for all to see. Sugar-coat it and generalize it (after the fact) all they want, that was a direct accusation, and a direct insult.

Thursday, August 03, 2006

The Mousie


I had a few people ask at Mysterium, so I thought I'd give the rundown here.

I have three kids, ages 16, 12 and 6.

The youngest is Mirriam, also known as Mousie, and she has a very rare (under 1000 known cases) genetic disorder called Smith-Magenis Syndrome. SMS is caused, primarily by a section of the 17th chromasome being missing, and in some kids, just the RAI1 gene missing.

SMS causes erratic behaviour, developmental delays, self injury behaviors and inverted melatonin levels, so they don't sleep well. Symptoms of SMS are often diagnosed as autism spectrum, OCD, ADHD or other behavioral psychiatric diagnosises. It takes a genetic test to find the SMS deletion, and as it becomes more widely known, more kids are being tested.

We were VERY lucking in that Dr. Magenis, the molecular geneticist who helped identify SMS worked at the childrens hospital that Mousie went to. Originally, Miri's SMS tests came out negative, because she's not missing anything on her 17th chromasome, but last fall two different facilities doing research on SMS confirmed that Miri's RAI1 gene is mutated.

She's a very cute kid, always on the go. She takes 24/7 care, so it's a challenge, especially without any respite or backup, but we squeek by.