I wasn’t expecting that…

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Unimpressed with another visit to the hospital

Months ago now, Miss Z had an appointment with her neurologist. I love her neurologist – not only does she obviously care about Miss Z and actually take the time to have a discussion with me, but she is also a sincerely nice person. Plus, she recognised us in a shop one day – completely out of the neurology context and remembered both Miss Z’s name and mine, which reinforced my belief that Miss Z is more than just a patient number to her.

At the appointment, the issue of Z’s genetics came up again. We’ve taken a long break from trying to figure out the cause behind her issues and have instead embraced the clinical diagnosis of ‘atypical Rett Syndrome’. At first, we decided to take a break because Miss Z was in a good patch, and we just wanted to enjoy the good times and not spend more time with doctors. And then she hit a bad patch and we were too busy dealing with her health issues to think about doing anything.

The neurologist has always been a proponent of figuring out the genetic origins of Miss Z’s condition. So, when the conversation came up, I asked what the next steps would be, since after testing for Rett and CDKL5, it felt a bit like we’d come to a dead-end.  She mentioned exome and whole genome sequencing, but QB and I aren’t particularly keen as it is very expensive and we feel that the money could be better spent on therapy, equipment and activities that would directly improve Miss Z’s life.

We chatted some more and she suggested that she refer me to a paediatirican who specialised in – amongst other things – genetics. I’d heard of him on some of my Facebook forums, so agreed. Then I kind of forgot about it.

So, when our appointment came round yesterday, I wasn’t quite sure what it would cover. Initially, I’d suggested to QB that he take time off work to attend, and then later worried that perhaps I was making out to be more than it really was, so suggested that he not come.

I wasn’t actually at the top of my game for the appointment either. I was feeling a bit hot and sweaty since I’d over-dressed for what was a lovely, warm winter day in Brisbane – and the hospital was equally unprepared as they seemed to still have the heating on. I was distracted because I ran into the neurology fellow in the waiting room and was engrossed in discussing the pros and cons of putting Z on the ketogenic diet when we were called back to see the doctor. And Miss Z was in a less than cooperative mood – having been plucked out of school early for the appointment.

The appointment exceeded my expectations. He did a case history, and asked a lot of seemingly random questions about Miss Z. He asked to see photos of Vegemite and QB on my phone. He was fascinated by the fact Miss Z’s hair is striped – each individual hair has darker and lighter bands of colour. He examined her legs, which are quite furry and asked if I thought they had been like that from birth or occurred later. He commented on her eyebrows. He asked several questions about her osteopenia. His questions all seemed a bit random, but he was obviously considering and ruling things out as he went along.

We concluded the appointment with a plan. At Z’s next pamidronate infusion (when the line nurse is inserting the cannula), they will take some blood samples. The doctor thought there were a few tests that hadn’t been run yet that were fairly quick and easy. He also wants a hair sample to send to a specialist in hair pathology. And if none of that turns up an answer, he will aim to get Miss Z onto an upcoming medical trial that involves exome sequencing – and since it is a trial, that means the test will be free.

To be honest, I had given up ever having a diagnosis for Miss Z. Of course, even with our new plan, we may not get an answer. It feels good, however, to be back looking. After trying to make my peace with being undiagnosed, I wasn’t expecting that…

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