She DOES have a genetic mutation on the same gene that controls the calcium channels that would make this diagnosis a slam dunk...BUT it is not a recognized mutation. The mutation she has is "indeterminate". So basically, we have one more test that pats us on the head and says "Yes, you're right. There is something wrong." but gives us little more information.
The neurologist, pediatrician, and I got a nice chuckle out of this, because at this point we expect a non-specific result. We would be good and surprised if we got something informative back. They both agree that this means we're digging in the right spot, though. She is being switched to Topamax, so for the next 2 months we will be weaning her onto the medication. The doctors are also prescribing Zofran to be given at the start of an episode to control the vomiting.
If the episodes continue once we are on the Topamax, we will go in for further testing, just to be sure there isn't a new development.
Josh is currently on the couch with his head covered by pillows with a headache of his own. I hope the medicine works before it gets to be a full blown migraine. I need a break tonight!
A picture of my sweetness from last night:
We have gotten more than our money's worth out of the Baby Papasan. Not only did she love it as an infant, it makes a lovely "sick seat" for a toddler. :)
(excuse the mullet-esque hair, its normally not that bad *lol*)
16 comments:
Oh Kyla. I am so sorry little KayTar is sick. She looks so sad in the picture. I want to break through the computer and hug her - and you.
I hope the new medication works and I pray that you find an answer soon.
Through all of this, I continue to be amazed and inspired by your positive attitude.
So sorry to hear the results weren't more conclusive, but I'm glad to hear that you've found a new medication regimen.
Kyla- sorry to hear about the latest episode. First regarding the 'unrecognized mutation'. I COMPETELY understand your frustration. This is the point we are at with Austin. He has a mutation on his tuberous sclerosis gene, he has some developmental signs of TS, he has seizures, but because the mutation is unrecognized and he doesn't have enough signe they won't say he has it. Which means they won't test connor who has some delays that could also be tied it. I have my geneticist and developmental ped fighting about this right now. Both the neuro and I feel the mutation means something!
Now, my comments on Topamax. The three biggest side effects are lack of appetite (and I know how happy you are about KayTar's increased eating!), the lack of ability to sweat and it's a cognitive duller. I believe you are down south so the sweating thing is very important. Make sure to keep her very cool on hot days because she won't be able to regualte her own body temperature. This was a huge problem for Austin and we are in NY. As for the cognitive dulling, just keep up on therapy and she should be fine. All these things aside...if it works, it's WELL worth it!! Remember, every drug has side effects and not every side effect affects every person. But these episodes are no way for KayTar and your family to exist.
good luck,
Jen
My baby almost always looks like she has a mullet in her photos - I got so frustrated with her older sister's hockey hair when she was a toddler that I just cut it all off into a little Parisian-esque do.
Poor you. It's so frustrating to be in this diagnostic limbo while your child is suffering! I hope that everything gets figured out QUICKLY.
I have come across more and more people who have taken their babes to doctors who have been absolutely no help at all. What we need is "Dr House". (Not to make light of an awful situation, here...)
Hope KayTar catches a break soon. I am constantly amazed by your positive outlook. I am not convinced that I could be as assured as you in the same situation
Warning! This was the EXACT same thing they told us. Six months later "oops, it was an artifact". I know it could be real for you guys it's just weird. Another mom had the EXACT same thing too "indeterminate variation" and then..."oops".
Also I wanted to remind you that periactin is an appetite stimulate. Topomax descreases it.
We tried Topomax without sucess.
We do Zofran for the pukes. It's amazing. Hope it helps Katie.
Good luck.
Kyla,
I know it's not the same, but I went through this when I was doing genetic testing to find out whether or not I was a carrier for the genetic condition that runs in my family...it turns out that the mutation in our family is among the more rare mutations and it took much longer for them to rule out any concerns.
It can be a real test of your patience, but you are so incredibly strong and, as has been said here many times, positive.
Many many virtual hugs been sent KayTar's way (she looks so sweet...and as the mom of a kid with a true mullet, I'm jealous that she only looks as though she has one!).
Ah Zofran - I remember it well from both of my pregnancies. I didn't even notice the mullet, I was just thinking, "wow, KayTar's hair is really growing!"
Last night the boys and I prayed that her next episode would only be half as long. I hope it worked. (we also prayed that she wouldn't have another one. It is so clear that I am a lawyer. "Lord, please free KayTar from her episodes. If you can not free her, please allow the next to only be half as long as they have been." It really sounded a lot like the legal arguments I make every day)
Hm. There are plenty of mutations that "arent't recognized." I know it is frustrating for you.
I did a study on Topomax. Actually, it was my principal investigator's data-forging during that study that lead me to quit neuroscience. However, our tests have nothing to do w/ Kaytar's situation, so this particular forging won't affect her, whew!
So sorry to read about the journey your family is on w/ your adorable daughter. I pray that God will heal your little angel..and give you some answers in the process. Thanx for stopping by my blog. =) Come back again sometime.
I thought I commented here, but it must not have gone through.
She's such a sweetie pie. I think you are getting closer, even though it's going more slowly than we all would like.
Hug.
How frustrating not to have 'an answer'. But hopefully the new meds will work.
Hang in there!
That's the beautifullest mullet I've ever seen.
Aw, sweet picture. Sorry the results weren't more clear.
Aaawww Kyla....the 'not really an answer' answers are the WORST. Incredibly frustrating.
Yet again, I find myself completely amazed by your positivity. I have a lot to learn from you about being chin up when stuff gets difficult.
Try not to get frustrated. Having been down this road with a child whom the doctors loved to play NAME THAT SYNDROME, I learned a couple things.
1. In the end it doesn't matter what we call it, as long as our child gets the specific treatment and or therapy they may need.
2. 80% of all developmentally delayed children go without a specific diagnosis.
You are not alone. And KayTar is gorgeous!
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