Here’s a little story about a cute little Moose. At our 9 month well check, I asked our pediatrician about Moose's head circumference. Actually, what I asked is why they keep measuring it all the time, and noting that he's out of the normal range, but not ever doing or saying anything about it. That conversation lead us to a cranial ultrasound through his fontanel and some MRIs which showed enlargement in both lateral ventricles and also the third ventricle.
I want to emphasize that everyone in the 'fragile x' world told us this was typical for fragile x kids and that it was nothing to worry about. We have a new fancy children's hospital here in Austin and the fancy neurosurgeon didn't seem to have that same impression, but he also wasn't real aggressive about it and didn't clearly encourage us to worry/do something. My mommy instinct said that I shouldn't leave it alone, so I kept pressing everyone (I mean everyone, all kinds of doctors and therapists and researchers) about it.
After a butt load more non-invasive tests that showed absolutely no sign of intracranial pressure, we were pretty stumped. Moose had none of the classic signs of hydrocephalus, the closest thing that was similar to hydrocephalus was that he's developmentally delayed, but obviously this could easily be explained by his Fragile X. Not only that, he's a happy kid and a great sleeper, not common for kids who have neurological issues. I felt like we were on this pendulum, one day we were just dealing with Fragile X and didn't need to do anything about his large head size, and then I’d talk to someone else or read something and we'd swing back to the other side and I'd be gripped with fear about Moose needing brain surgery to get a shunt. You can’t undo a shunt once you go down that path and there are tons of horror stories about shunts. Basically, all my pressing yielded nothing that gave us clear indication that Moose was either fine or not fine.
Finally, I met with the neurosurgeon again and he said that we did have an option for getting a better idea of exactly what was going on inside Moose's head. I decided that I would let the neurosurgeon drill a hole in my baby's skull and put in an intracranial pressure monitor wire (ICP monitor). He had to have anesthesia and be in the hospital and all of that, it was very scary. He actually came through the procedure really well, and he was out of my arms less than an hour and perked right back up when he woke. Within a couple of hours, I was pretty sure things weren't going the way we wanted because the monitors kept beeping all the time with those stupid alarms. The next day, the neurosurgeon came in and said that Moose was definitely having sustained increased pressure as his baseline (his was in the low to mid 20s, they want an infant in the 3-17 range) and with spikes way above what they would want to see (sometimes into the mid 40s). So, then we knew, Moose had to have a shunt, and he got one the next day.
This was a very difficult process for me. It really really sucks when the doctors who are supposed to know what's going on send your kid for a million tests just to tell you they still don't know. I say that as a person who has historically not even really trusted or relied on western medicine all that much! It was even harder to risk that I would put Moose through the surgery for the ICP monitor, risking any number of complications, and find out that it was all for nothing. In retrospect, doing it and finding out that there isn't pressure would have been nice, but either way, KNOWING is better than not knowing.
Also, we learned during the process that some kids have 'low grade' high pressure that doesn't show up in any of the classical tests (just like Moose), but can cause lasting damage. The tricky thing there is that over time the brain compensates for the pressure, so if you test the pressure at age 6 it's normal, but the damage from too much pressure in infancy is already done. (And classically, it's much more common for Fragile X to be diagnosed at school age, so in that way it's not surprising that the FX people felt like enlargement was just typical FX.)
The wonderful news is that if there is pressure at this young age, they can place a shunt and the brain is still so flexible that it can completely heal from any delays or damage caused by the pressure. They basically can cure it completely with a shunt, but only if they do so in this little cognitive development window. In our case, Moose crawled for the first time less than 48 hours after his shunt was placed, at 13 months of age. He obviously still has fragile x, but his development has rocketed forward, it is SO obvious now that he was being held back by pressure in his brain.
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