Last week, KayTar saw a new geneticist. Our old one has moved away, following a job offer. This is the first specialist we've been forced into switching, though we've switched a couple (neurology/ophthalmology) for our own reasons. I was a bit nervous about the switch, but the appointment went very well. He had read KayTar's mammoth chart and was QUITE surprised to meet our bubbly, intelligent little girl after first seeing her on paper. Her last genetics appointment was over a year ago and her development has really taken off since then. It IS surprising! He ordered another chromosome microarray (the test has improved by leaps and bounds since her first one two years ago), and an acylcarnitine panel (for disorders where the body cannot properly breakdown fats). He fully expects the latter to be negative, but wants to rule it out definitively because her episodes seem to have a nutritional component. Unfortunately, this meant that KayTar had to have a needle stick, which she had been worrying about since she woke up. It went BADLY, poor kid, but we got the blood we needed and then got a special treat.
He also suggested, in a sidestepping not-exactly-my-area kind of way, that we bring her in for her next episode and attempt to get an MRI and EEG while she is in the throes of it. He said that some of these migraine variants cause observable changes in the brain that can be picked up on MRI, and the reason behind the EEG is self-explanatory. The pediatrician agreed, but said getting the MRI portion might be impossible, though we can try. The neurologist said that he doubts the MRI will show anything of value, but thinks the EEG is a good idea. So if her next episode falls between 8 and 5, Mon-Fri, I will take her in to the ER and see what we can get done. I hate the thought of it so much! I love the emergency department as a volunteer, but as a parent? IT SUCKS. The thought of bringing my writhing, vomiting, screaming, light-sensitive kid into a busy, bustling ER with insane wait times just fills me with dread. However, it has been nearly THREE YEARS since she has been evaluated for one of these, and they have evolved a lot since then. I think, in the long run, this will be worthwhile. I'm just not looking forward to it. The good news is that I'm making friends in the ER, so we might be able to get what we need a bit easier. Tonight I'm going to mention that we might be in as patients on Monday, so they will recognize me without my bright red vest, with any luck they can pull a few strings for their favorite volunteer.
Also, just in case this episode is NOT cooperative and falls outside of the 8-5, M-F hours, I spoke to her doctors about abortive medications (those that STOP migraine activity, rather than prevent it) so we can attempt to treat it. The last one was just so horrible, not even the Lortab could touch the pain...if they aren't going to stop happening on their own, I'd like to at least attempt to cut them short. 17.5 hours is too long, I don't want to know if they are going to get any longer. He's prescribing Imitrex 5mg nasal spray, if the first dose doesn't work, we can give a second in 20-30 minutes. I don't know how much luck we'll have giving her a nasal spray, but the other choice was a dissolving tablet and we have ZERO chance of giving her medications orally, so nasal spray seemed the way to go. The hope is that she tolerates the administration well and it is effective against these episodes. Either way, we're trying something new with this next episode, either testing in the hospital or testing out a new medication. Wish us luck!
Yesterday I received a call from the allergy clinic to remind us about KayTar's appointment next week (involving more needle sticks AND skin testing, she is going to be SO upset...my stomach is already flip-flopping over it) and to tell us NO MORE ANTIHISTAMINES until she is seen next week. I relayed the message to Josh, since we shift parent more than team parent these days. When I got home from math class last night (which I have a 101 in!) KayTar was coughing up a lung. OF COURSE. She hasn't had a cough or runny nose in weeks, MONTHS even. Now, as soon as we can't give her Benadryl, she is sick. We always treat her cough with Albuterol and Benadryl, to open the airways and dry up the drainage, now we can't! It is a throwback to the olden days, pre-tube, before we could medicate her properly. We'll survive, we did back then (though we treated her coughs/cold with cyproheptadine suppositories, a less effective antihistamine, back then). Hopefully, this summer cold is short-lived and doesn't escalate to the nightly vomiting-from-drainage level, and we won't miss our antihistamines too much.
She has some nonspecific inflammation around her g-button site, too. A couple of weeks ago, she had of folliculitis (staph) on her tushie again and it developed around her tube as well. We treated with mupirocin, both areas. Her tushie issue was resolved, but the g-button site never quite got all the way there. Last night it was noticeably more inflamed, but didn't have the little pustular areas associated with folliculitis this time. I sent photos to the pediatrician who recommended treating for yeast and watching it closely, so we'll see if this does the trick! If the red area grows or pustular areas develop, we will have to reevaluate. We have a vacation planned for this weekend, so I'm hoping that it won't be interrupted by episodes, illness, or skin-infection issues!
So many needle sticks! Poor little thing. Hopefully you get some answers soon, though. Maybe a fresh pair of eyes will help!
I love the report on the new geneticist! In talking with ours it is absolutely amazing the strides that area of medicine is making.
BTW, I would DREAD waiting out that allergy appointment. Ben would certainly end up in the ER with pneumonia.
ooooh, what a great update! Sounds like the new guy is a keeper!
But bless your hearts,
"So if her next episode falls between 8 and 5, Mon-Fri, I will take her in to the ER and see what we can get done."
That's a big bill to fill for you all!
Just a forewarnng about the Imitrex - even the nassal spay is some pretty nasty tasting stuff. It works its way down your throat and into your mouth - very icky!
Also, the side effects for Imitrex (for me, at least) include a very weird - not painful, just weird- crawling sensation inside my head over my scalp. If Kaytar says something like, "Spiders are in my brain," or "Bugs are crawling in my head." that will be what she means! It doesn't last long but it is weird when it happens.
I hope you have success with it. Here episodes don't sound like a lot of fun for anyone. ;)
Wow, now that is a lot of information. I'm so glad it seems like you've got another great doctor to treat the wonder that is KayTar.
On one hand I'm hoping for that next episode to fall during office hours. On the other hand, I wouldn't wish that ER experience on anyone, most of all you and KayTar.
The geneticist sounds proactive AND he read her chart, very impressive. Our geneticist told us those microarrays are really helpful when he just cannot figure out what is going on with a kid. That's how he diagnosed J.
I think and hope it will really help you speed through the ER knowing some of the staff. That will not be fun, but hopefully worthwhile.
Poor, poor little munchkin. Loving the news with the geneticist!
Sounds like a great new geneticist ... seems like a fresh perspective may be a great thing!
Wow, that IS quite the roundup. I am not wishing for another episode by any means, but I do hope that you can get those tests run and see some conclusive evidence. Answers would be nice! She's a serious trooper that girl. You should work the hell out of that ER connection my friend!
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