1. I gave her cereal before I gave her a drink
2. I gave her the wrong drink
She ended up having a chocolate nutritional supplement instead.
I was scared for today. I'm not sure of what I was most afraid of; finding out she has a condition, or finding out all the tests were normal. Part of me hoped the tests would reveal something so we could start treating it and have closure, while the other part of me wished it would all be normal and I could wake from this dream to find Zoe a healthy, normal, developing child. I suppose I'm still grieving.
We picked Daddy up at noon and began our trip to Toronto's Hospital for Sick Children Metabolic Genetics department. Daddy was tired, so I drove. That is until a transport truck nearly hit me from behind in Oakville. I was forced to slow to 70 because of a traffic jam, meanwhile, the transport truck was still doing 100, and only changed lanes when he was within one inch of hitting us. Scared, I turned off on the next exit and switched spots with Mike. I've only ever driven the 401 at night when it's an empty road, not when it's as crowded with psychotic drivers in heavy vehicles capable of killing others.
I was supposed to meet a friend for lunch (Sorry, Laura!) but didn't make it. We finally arrived at Sick Kids at 2:00pm and made our way to the Metabolic Genetics department, where the kids, both Zoe and Isaiah, played with the toy kitchen, coloured and watched Phineas and Ferb. Finally, 3:00pm rolled around, and to say I was nervous is to say the least.
"Is this Zoe?" the nurse asked. I replied that it was and promptly sent Mike a text message to get his and Isaiah's butts back to the clinic, as we were about to go in. The nurse took all of Zoe's measurements; head circumference, weight, height.
Height: 90.1cm (2' 11.47") (5th Percentile)
Weight: 27.1 pounds (12.3kg) (6th Perentile)
Head Circumference: 44.3cm (17.4in) (-2.9 Standard Deviations)
The head circumference growth was good news. That was up .3cm since they last saw her.
The nurse asked a few questions, mainly about any new developments, positive or negative, and we told her about the seizures Zoe has been having, and that she is already scheduled for an EEG in September. We also let her know about the saccadic eye movements and the clonis reflex in her left leg. The nurse and the resident doctor we saw next tested the reflex and the clonis wasn't evident, suggesting it is a post-seizure reflex. We explained to her, the resident, and the geneticist that the neurologist in Hamilton (who actually used to work at Sick Kids with Zoe's geneticist) suggested that because Zoe's seizures only appear to happen in her sleep, that she's having two seizures; one, a small one, somewhere in her brain, to wake her up in the night before she has her visible seizure, followed by the visible seizure. All three of them said it made perfect sense.
Finally, it was time to get the results.
The geneticist came in and told us that her microarray testing was normal. The basic mitochondrial testing was normal. All tests but one were normal. She tested for elevated amino and organic acids, but he suggested that it may have been because she ate before her test. Honestly, I can't remember that small detail. The geneticist wanted to see if that would lead us down any path, and ordered the amino and organic acids retested. He also ordered a test called MIDNA Depeletion Panel, which is a more advanced mitochondrial test only available in the USA. Her bloodwork will be sent to a lab in the States for testing, and thankfully, it is covered by OHIP. He also is referring her to an opthamologist. Finally, he is having ordered a repeat MRI to be completed between December 2010 and June 2011 to check on the progression of the condition. Barring any abnormal test results from the MIDNA depletion panel, she will see him again next July.
Finally, we asked him if he has ever seen a case like Zoe's before, and he said yes. He has been seeing a little boy for six years who presents with the same MRI pattern, the same delays, the same symptoms, the same facial features; he says as if they could be twins. But before we got our hopes up, he quickly told us they've been putting him through tests for six years and still have not found a gene, a sign, a positive test, a diagnosis. He has been through every test they can give him, multiple times, and they cannot find a diagnosis. All the geneticist is doing for him now is treating his symptoms, repeating MRI's once a year and seeing him for followup once a year. He said given the young boy's circumstance, we shouldn't hold out hope; it is likely we will not ever find out what Zoe's condition is.
Which begs the question: If we know it is unlikely we will find out Zoe's condition and what is causing her microcephaly, is there a point in continuing to put her through the torture of test after test, when we know what the outcome will be?
It's a struggle, but we'll take it one step at a time. We will probably continue testing for now, because it's possible that maybe she has something a little different than this young boy does, and maybe one day we'll find a clue or a path to explore. For now, the puzzle pieces lay scattered across the floor, and they all fit somehow, but how they all fit together, is something we're still trying to figure out.