A Trip to the Geneticist – 29 August
I’ve already written a blog about it, so I won’t rehash the details, but after waiting for nearly a year, we finally saw a geneticist. In the end, we were fed up with waiting to see one through the RCH and instead went private, using a recommendation from our neurologist.
After a lengthy discussion on Lil Z, mapping out both sides of our family, and examining Lil Z, he said that he thought it was likely that she had a rare variant of Rett Syndrome, called CDKL5. It is effectively an early onset variant, where seizures are present from early on and there is no regression phase, unlike in classic Retts. We’ve since done a fair bit of research on CDKL5 (the Mercedes of Retts Syndrome, as QB calls it), and the symptoms all fit perfectly.
Of course, it can’t be confirmed without testing. So, our next step is a blood test.
Seizure in the Car – 27 August
Lil Z’s nanny and I often talk about the worst places for Lil Z to have a seizure. I mean, what do you do if you’re in the middle of a shopping mall? Or on an airplane? Or she’s asleep and you don’t notice?
Well, Lil Z seems to be listening and putting us to the test. She’s had a seizure in the middle of Vegemite’s swimming lesson. She has also had a seizure with the nanny in the parking lot of McDonalds. But today she really scared the daylights out of me by having a seizure while in the car.
We were going to Baby Bridges, a kind of support group, that is located in Strathpine, north of Brisbane. Lil Z had been a bit unsettled in the morning, but nothing unusual. While we were driving, Vegemite started giggling about how Lil Z was blowing bubbles. We were having a laugh about it until I stopped at a red light and turned around to see the bubbles. Lil Z was having a seizure and foaming at the mouth.
I panicked. I was on a busy street in an unfamiliar area and had no idea what to do. I managed to turn onto a side street, pull over and get to Lil Z. It had been well over five minutes at this point, so I gave her Midazolam, but it didn’t seem to have any effect.
I called QB in a panic, honestly having no idea what to do. I didn’t even know the name of the street on which I was parked. QB suggested I get back in the car and drive to Baby Bridges, which was only about 5 minutes away. At least there I’d have help and know the address in order to call an ambulance.
Driving while my child was having a seizure in the back seat was not an entirely good idea and I’m probably lucky that there were no speed cameras or police in the area. Vegemite gave me updates from the back while I drove. Fortunately, Lil Z came out of the seizure while I was driving to Baby Bridges. It was a huge relief when I finally arrived.
A Very Bad Week – the week of 20 August
Any week that starts with an ambulance ride to the hospital is never a good one, but one that ends with a broken foot is definitely up there in the category of “one of the worst weeks of my life”.
After being a bit unsettled in the morning, Lil Z had a seizure, right before I went to wake her to go to her PT/OT session. I could hear her moaning (that’s not quite the right sound, but as close as I can describe it) and even as I walked down the hallway, I knew it was going to be bad. Although she usually has absence seizures, this one was more myoclonic (with jerks or twitches) and every time she jerked, she let out a horrible moan.
I followed our seizure protocol: waited 5 minutes to see if she would come out of the seizure naturally, then administered Midazolam. When that didn’t stop the seizure, I called an ambulance. By the time the ambulance arrived (approximately 15 minutes later) she was responsive and coming out of the seizure, although the myoclonic jerks continued for several hours afterwards.
As with most of Lil Z’s seizures, she was initially lethargic and then started to cry and scratch at her ears and face. This went on for over two hours in the hospital. I find it deeply distressing because it means that although the seizure is over, something is causing Lil Z distress or discomfort. The medical staff, however, do not seem particularly troubled by it. Then again, they’re not the ones holding a screaming baby who is trying to tear her own ears off, either.
When the Neurology Registrar examined Lil Z, he found fluid in one of her ears, suggesting she has an ear infection. This took me by surprise as she’d just had a very good week and hadn’t shown any signs of being unwell. Not to mention we’d been in the hospital a few weeks earlier, where they pumped antibiotics into her. Still, that seems to be the most likely trigger of the latest seizure.
Fortunately, the Registrar trusted that we could monitor Lil Z and let us go home rather than stay in the hospital overnight for observation. He even impressed me by calling several times the next day for progress reports.
Lil Z has been fine since then. A little lethargic the day after the seizure, but now back to her cute but demanding self. However, I am left feeling like we’re walking on eggshells. Her medication is staying the same in order to give the new level of Epilim more time to take effect. So, I wait, watch and administer more antibiotics, not knowing if this latest infection triggered the seizure or if her medication levels aren’t right. This was the third significant seizure she’s had in the past three weeks. That is more seizure activity than she’s had since February this year. I wish I knew why they suddenly seem to have reappeared with such a vengeance.
And My foot?
As for the broken foot, its only a stress fracture, but still quite painful. I can’t stay off it, have a cast or get lots of rest because I need to be able to take care of Lil Z. And it has finished off my hopes for running the Bridge to Brisbane next weekend. A disappointing end to a frustrating week.