Monday, December 23, 2013

Merry Friggin' Christmas

I have several posts floating around in my head.  One that is quite funny is the story of our Jonathan's Christmas tree.  I also need to make a post about how we put the scale away.  The scale that we have weighed all of Jack's food on for the last 3.5 years.  Yep, it's UNDER the cabinet.  And potty training, I actually hesitate to even mention it because I might jinx it.

But this post is dedicated to the little spunky girl who scared the shit out of us this week.  Back at the beginning of November we had her blood drawn to be tested for TSC because we just want to be sure. All of these doctors are telling us that we have nothing to worry about, that because neither Jonathan or I have it that she is fine.  Well, the chances of Jack having TSC were 1:16,000 but because Jack has it the chances of Maggie having it (or any other siblings) are 1:100.  I'm sorry, but 1:100 is a hell of a lot more likely than 1:16,000.  At the beginning of November she was 5 months old which was when Jack was diagnosed with Infantile Spasms.  That time in my life was horrific and a parents worst nightmare and to not know if this was something we needed to worry about again or not was a big concern.

They told us it would be 6-8 weeks for the test results, so about now.

Well, last Tuesday we were all sitting at the dinner table and she started doing this thing.  The first time or two I didn't think much of it.... but it kept going.  Her arms would go up, her head would go down and to the right, her whole body was a bit stiff.  And it happened over and over and over.  I freaked out!  I got some of it on video and was getting ready to take her to the ER.  Then I remembered it was flu season and I paused.  I called the only number I really knew to call and that is the after hours number for the clinic Jack goes to.  They only see medically complex kiddos so Maggie is not a patient there, but thankfully they were extremely helpful.

I texted the NP the video, she watched it and texted it to Jack's pediatrician.  They both said it looked very "suspicious".  The NP convinced me not to go to the ER but to wait and they would get ahold of a neuro the next day and get us in for a full work-up soon.  The next morning I got a call that the doc who diagnosed Jack saw the video, he also thought it was "suspicious" and wanted to get her in for a 24 hour EEG to get to the bottom of it as quickly as possible.

So Tuesday night is when we saw the first "episode" and Thursday morning we were checking into the EMU (Epilepsy Monitoring Unit) at Dell.

Getting hooked up is awful.  Having a baby hooked up is awful.  Really, the whole experience is just awful.  Thankfully I have good friends who brought me "coffee" which was really alcohol in a starbucks cup.  Thursday Jonathan had to work all day.  That night my wonderful sister-in-law took Jack but he got upset so Jonathan went and slept at their house with him.  Thankfully the next day he was okay hanging out with them so I had a little help for a while.  Doing that by myself is next to impossible.  Trying to eat with a baby pulling on those things, grabbing for my food, or trying to take off across the room makes things like eating or peeing seem unnecessary.

Jonathan did earn some MAJOR brownie points by calling the lab that was running the TSC test and getting them to rush her test and have it done by Friday.  I had called the doc's office in Dallas who had ordered the test and they put some pressure on the lab too.

After a very stressful hospital stay, we got the best anniversary gift ever (yep, Friday was our 10th anniversary and we spent a good portion of it in the hospital with baby girl) when the neurologist told us that her EEG was perfect and completely normal.  She did a few individual jerks, which I now call dance moves, while she was hooked up, but never any repetitive ones.  I was hoping for a good cluster like I had seen both on Tuesday and Wednesday but no such luck.  However the neuro was confident that had it been infantile spasms, we would have seen some indication of it on the EEG, even without a cluster.

Of course the lab didn't fax the test results to the doc's office until 4:45 and everyone left at 4:30.  Completely annoying!  We had dinner plans down town but after the hell of the previous few days, decided to say in with our kidlets.  We ended up throwing an impromptu dinner party and it was actually really great.  Honestly, the steak Jonathan made was probably better than what we would have had out anyways.

This morning we started frantically making calls about those test results though and we heard that our little girl does not have TSC 1 or TSC 2!!!!  The nurse went on about how she could still have an unknown mutation and that if she didn't do the cluster thing while hooked up to the EEG that you never know, etc etc etc.  BUT, we are pretty confident that she is healthy and just has a wicked case of reflux.  I have never been so grateful for reflux.  I guess I should not have risked it and eaten that fetta at the office party last weekend because she had definitely been more pukey since then.

So, no more dairy at all for me while I'm nursing (only another 6 - 24 month to go, woo hoo!) and we are all going to have a very Merry Christmas.  I just got my present a little early.  

1 comment:

  1. You had me scared there! Thank god!!! Great news! Good for you for being proactive! You did exactly what I would have done! If it was IS I am sure it would have clustered and gotten worse (I'm sure you already know that though) whew what a relief!