4th Day of Christmas: Puzzle pieces of storming

At our last cardiology appointment, Dr. Luby said that since there were a few changes in Ellie’s storms in the last few months (what I’d describe as seizure-like episodes), she put in a referral to Neuro at Dayton Children’s.  She wanted to make sure Neuro was on board with what we were doing and since Ellie hadn’t seen a specialist in Neuro since she was 2 months old, I completely agreed with this idea.

So earlier this week, we went to see Dr. Kumar for the first time.  To explain Ellie’s storming, I had to recap her history back to when she was six weeks old and began all of this.  I explained the manifestation of storms at that time, what worked to calm them, and what state Ellie was in at the time.  Then I progressed through the changes in storms that coincided with the changes in Ellie’s health status… the medications involved for maintenance, prevention, and rescue.  We went through triggers, changes in manifestations, and theories that were thrown out all along this journey.  Then I showed video of the specific times when Ellie’s body shook (what I was thinking may be a seizure) in the midst of her storming.  I also brought up the photo I have of Ellie’s MRI and told her the results of the multiple EEGs we’ve had.  See, y’all, this is why I forget where I’m going sometimes… I have all this other mumbo jumbo in my brain (alongside the lyrics to most Salt-N-Pepa and 504 Boyz songs). 

She’d also collected a brief family history.  Once digested, she said, “I don’t think these are actual seizures here” (pause for a HUGE relief), then she went on to ask about other family history that I maybe didn’t mention in depth.

“You have migraines, right?  Do migraines run in your family?”  - YES (a big ol’ yes, that is)

“And you said fainting spells, too, right?”  - YES

“What about circulation issues?”

“Like Raynaud’s?  Yep.” I said.

She explained that the migraines, fainting spells, and Raynaud’s are all physiological signs of dysautonomia.  Dysautonomia can be genetic and can manifest in many different ways.  I’m sure the list above isn’t all encompassing.  She said that Autonomic Storming, or Autonomic Dysfuction, is another form of dysautonomia, but one that is almost exclusively caused by a traumatic brain injury.  We did know that.  However, she said with a strong family history of dysautonomia, she thinks that Ellie is having “an elaborate physiological response”.  So she takes this dysautonomia thing to the extreme (imagine that) and it presents as autonomic storming. 

She said it could be cardiac related – meaning her getting upset may be triggering something cardiac-related (though likely nothing scary) that then mushroom clouds into her autonomic system and sends her into a storm.  As crazy as that sounds… this is an explanation that finally makes sense… for the first time in over 38 months of storming, we have something that makes sense.  However, I told her that I was not telling my husband what she said because he’ll blame it on my faulty genetics.  Haha.  I have plenty of people (men & women) in my family that have suffered though unimaginable migraines… have several that experience fainting spells, and several that have Raynaud’s, too.  

Sooo… we already knew that there’s a 95% likelihood that it was MY extra 21^st chromosome that was given to Ellie… and Down syndrome is to blame for the heart defects… and now it’s almost certainly my fault that she storms… uhhh… I’m still in the running for mother of the decade, right?  Ha!  And Ellie’s dramatic, you say?  Ahhh… that cannot come from me.  Hehehe. 

So there you have it, folks – the first reasonable explanation for Ellie’s storms.  It boils down to me having fabulous genes that I’ve so graciously passed along and Ellie being a drama queen.  I like this, I really do.  Seems fitting!

All joking aside, storms still suck.  But at least we know it is unlikely that they are doing her body harm (as long as we control them quickly).  Dr. Kumar did suggest that maybe we need to go back on the beta blocker as a regular med instead of having it to dose out when a storm starts.  This would keep her from storming altogether (we hope).  She’s punting that call back to cardiology because it is, after all, a beta blocker.  We use propranolol, by the way. 

I would like to see the day when storms are no longer an issue.  We had about 15 months (between Boston and October 2016) when we did not have storming episodes.  Her first storm after that dry spell was epic and for the first time, she knew sign language.  The sight of her little body moving helplessly in that hospital bed, crying, and signing “all done” is forever burned into my heart.  There’s not much that prepares you for something that awful.  But once we recognized what was going on, we put a plan in place to treat as needed… and we’re moving on with that.  With this new explanation of Ellie’s storming (I call it “Ellie’s” because it’s unlike other storming), I kind of feel like these are things we’re just going to deal with.  I imagine that as we enter big changes in her life… like say, puberty… the manifestation could change again.  Who has energy to worry about something that far in advance, though?  Not this momma.  We’ll see what cardiology says about a daily dose of propranolol and we’ll go about our happy way… adding Neurology as eighth on the list of specialty clinics we’ll visit regularly.  Meh… could be worse.

And just like that, we’re a third of the way through the Days of Christmas posts.  And wouldn’t you know it… the more I write, the more I want to write.  But y’all… I’ve got to get some stuff done today.  I woke up extra early to crank out a post before I started working.  Have a wonderful day and thank you for following along. 

Ellie's only brain MRI - she was 3 months old.  She that pocket of fat on the back of her neck?  That's call a nuchal fold and it's another "soft" marker they use to determine if an unborn baby has Down syndrome using ultrasound.  This is the only image I have of Ellie where you can really appreciate it.

This is a picture of Ellie FINALLY sleeping after her 1st storm.  She was six weeks old and had been up all night frantically moving around, sweating, and had a high breathing and heart rate.  She also drove up her temp that night... but we didn't chart temps the first night.  After five hours of this "fit", she fell asleep as I packed our bag for the ER.  Luby had called me back and said that Ellie couldn't handle that kind of stress and I needed to bring her in.  We held off once she slept, but ended up in the ER the next night for the same thing.  We'd go on to have storms DAILY... through the WHOLE night until she went on propranolol at 11 weeks old.

These last pictures break my heart, but I'm going to let y'all in on the ugliness of storming, here.  These are from an episode about a year ago where Ellie started to storm and it went ugly fast.  In less than an hour, her body temperature was right at 104 degrees.  She was miserable and, as you can see from her pulse oximeter, sitting in the mid-80s in oxygen saturation (even with a few liters of O2 running) and her heart rate was in the 160s (it's usually around 100-110 when she's awake).  The picture just below it was taken about an hour after propranolol took hold.  The difference is amazing!  Storms usually wear her out completely because her body is essentially doing a crossfit workout for an hour or so, but this time, she was awake and happy afterwards for a bit - then went to bed for the night.  So this yuck picture, we see this regularly.  When she's sick, we see it daily - we hold her like this (sometimes with tears streaming down our faces) until the medicine takes hold and calms the storm.  Poor sweet girl.

 84% saturation while on oxygen... and a HR of 163... you can't see the temp of 104.

Is it any wonder why we're always amazed by her?

But she's resilient and bounces right back to her happy self afterwards.  And see... I complain an awful lot about my migraines.  #perspective  

Am I right?

On a super happy note (cause we can't end a post with a bummer), this is what we're trying today... skivvies.  She's a long way from being potty trained, but we're seeing how she does in these.  They were just too cute!