I'm in Vancouver with Jade. We've come down for her regular visit to BC Kids. There was no EEG this time. Her epileptologist says she's stable and is pleased at how far she's come and how she's developing. We'll do some more tweaking to the diet but she says we won't need to come down again for six months.
Notwithstanding the progress made on the epilepsy front, a new area of concern has emerged. It's normal for kids on the ketogenic diet to get a fatty liver, but Jade's liver enzymes are high even for a kid on the diet. Playing it safe, our epileptologist referred us to a renal gastrointestinal specialist.
The day that we flew into town, Jade and I went straight to the hospital for some bloodwork. The GI specialist had Jade's blood testing for a slew of different things. One of the tests came back abnormal. It was a test for Wilson's Disease. The test alone doesn't mean that Jade has Wilson's Disease - a recessive genetic condition where the body cannot properly process excess copper, so it builds up in the neurological system, eyes, and liver and causes neurological problems (including seizures) and liver problems.
The bad news is that, if Jade has Wilson's Disease, it's something she'll have to live with for her entire life. The good news is that it's treatable and, (I hope) if we treat it properly, maybe it'll get rid of her seizures completely. It could be one of those "bad news" things that's actually a "good news" thing.
But it's a very, very, very remote chance that she has Wilson's Disease. People with the disease usually develop copper rings in their eyes (but you'd need specialized optometry equipment to see them). We had Jade's eyes tested while we were here and she doesn't have those rings. In fact, the optometrist said that her eyes are all-round perfect.
There are a number of other things beyond the DNA marker and the eyes that must be tested for a formal Wilson's Disease diagnosis. The "gold standard" is a liver biopsy. We're not even close to going there yet, though. We still have other - less invasive - tests to do first. Like lots of urine testing.
Just an aside to say that I wonder about these people who have diseases named after them. Do they take it as a compliment or does it pain them to have their name associated with a disease? That their name will be forever associated with something that afflicts people in a negative way.
"Dude! Your nose is running! You might have Meandering Michael's Disease. You should get that checked out."
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