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May 24 Weekend

I have never understood why the May long weekend is almost NEVER on May 24, which is in fact Queen Victoria’s birthday. (  I know this because it is also mine so that makes me an expert). It is always the third Monday in May which almost never, actually I think never, falls on the 24th (correct me if I’m wrong, but I am an expert) and I would like it if my birthday was a holiday weekend more often. Who can I talk to about this? (besides a psychiatrist?)

“The twenty-fourth of May

Is the Queen’s birthday;

If they don’t give us a holiday

We’ll all run away!”

This past May Long Weekend,  our family headed to Vancouver. Ben had to have an MRI and we were also meeting with a geneticist regarding some results they had obtained from some new genetic testing that was done. They actually found, not ONE, but TWO mutated genes in Ben’s DNA that look as though they are causing his problems.

One is called SPASTIN and it causes spastic paraplegia. The main feature of this is progressive stiffness and contraction in the lower limbs due to dysfunction of the nerves. It is not a form of cerebral palsy, but appears and behaves much the same. There is anti-spasticity medication. Who knew?

The other is called KCNQ2 and it causes a condition characterized by early onset epileptic encephalopathy. These seizures show little response to treatment (maybe why we can’t find the right drugs to work?) but usually go away in a few years…  but not so yet with our Benny boy. Most affected individuals are unable to talk (check), have low muscle tone (check), and intellectual disability  ( who can tell?)

Anywhooooo, they took the blood from Gary, Jordan and I to do the same genetic testing on, but don’t expect to find the same genes as none of us present with these disorders (well maybe just a little intellectual disability….I’m not saying who, except not Jordan or me). So not sure whether they can call it hereditary. Might be just a spontaneous mutation (or actually, TWO spontaneous mutations!) Lucky Ben. Good to have some kind of answers even if it’s too early to tell if any of this will make things better for Benny.

I tried an unusual recipe the other day (and of course was the only one to eat it). I roasted carrots with radishes. Yep….. RADISHES roasted? Weird, hey? I don’t know if I would bother to do that again. There are better things to roast. I just had to try it in case it was something wonderful. I didn’t think it was, but then again, I am no expert on radishes, just May 24.