Back so soon?

Ahhh.  Here we are back in the hospital.  It's weird to not enter through the Emergency Department.  To drive here in our own car.  To have to wrestle a toddler down for an EEG who's wide awake and not totally doped on diazepam.

Okay, I've done the last one a few times.  But still, not for a while.

Anyway, we're in for a visit to the Epilepsy Monitoring Unit.  Apparently, this is a level 4 EMU, which is probably pretty good, except that I didn't know there were levels and, well, let's just say that this is far superior to the last few stays we've had at EMUs.  See, once they hook you up to the wires, they hand you a button (or, in this case, hand your mom a button) and tell you to push it if something happens. 

Lucy got ahold of the button and pushed it. 

At the Shitty Hospital, where we've always done our EEGs up until now, that was it.  You push the button, there's a mark on the monitor, and the doctor looks at that point and says "seizure or no seizure."

At THIS hospital, when you push the button, an alarm goes off at the nurse's station, the lights in your room come on, the TV goes off, and an EEG tech and two nurses run into your room.  IMMEDIATELY.

To say that Lucy and I were not expecting this is an understatement.  We were preparing to EVACUATE.

I want a Dravet buddy.

I don't want you guys to think I don't love you and appreciate you, because I really, really do.  You give me perspective and support and make me laugh and bounce me back and are so awesome beyond anything. 

Really.

But sometimes, I also want somebody who is in the trenches with me.  Who, if I say, "I think they're gonna put her on the DIET," doesn't need an explanation about the G-D EFFING DIET (the vitriol is not directed at you, it is directed at the diet.  The diet is the biggest pain in the ass.  Let me explain a few things about why:  1.  No sugar;  2.  You have to eat a specific amount of calories, no more and NO LESS, so a lot of kids end up with a supplemental feeding tube in case they don't eat all of their meals; and 3. If you cheat, you will have a seizure, so if my kid's crazy-ass grandparents slip her candy, she'll seize. GIANT PAIN IN THE ASS.)

Sometimes it feels a little lonely out here.  I keep trying to make a Dravet buddy, but the network feels a little like a closed club.  Especially since Lucy is, overall, doing pretty well compared to the other kids. 

We saw Dr. P today. He rushed us in after we called to report on Lulu.

I'll back up. 

Lulu has been doing that weird posturing stuff for over a year, and nobody knows what it is. 

For three weeks, she's been having episodes of muscle weakness.  And we can't get her to respond well -- she's dazed and grunty and kind of unresponsive. 

Sometimes, immediately following these episodes, she postures for a while.  And wanders around.  He says they might be complex partial seizures.

Awesomepants.

-----
But, in other awesomepants news, Lulu is interested in the potty.  I'm not holding out any timeline here, because with all her stuff I wasn't actually expecting her to use the toilet with any regularity before the age of four (hypotonia affects all the muscles, including bowel and bladder).  But she is now the proud owner of a froggy potty.  Just in case, you know. 

Why Howdy Neighbor.

Dravet Syndrome is going to make me lose my shit.

So, today has not been a good day.  We lost one of our kids today. 

And no, I have no hold on this child.  I don't know the parents or the kid.  But yes, it hurts me like a part of me is cut off because every day we all fight to not lose one of our own.  So she was one of mine. 

And THEN my neighbors threw a party and one of their guest parked in front of my driveway.  I swear, if Lulu had had a seizure I would have just rammed that damn Kia.  As it was, Travis had to just about restrain me from leaving a note with some thinly veiled sarcasm.

Mean Red Days

A little girl died from Dravet last night.  She wasn't yet four.

I still think it's intolerable that any kid dies from any condition.  But it's slightly more intolerable that any kid dies from my kid's condition. 

I've spent much of the day leaking from my tear ducts. 

Love and Other Stuff

I love watching Lucy fall in love.

I can see how some people hate watching their kids reach for other people, but I'd rather have Lucy love and trust the person she's with.  And she, after all of two visits from Carrie the CNA, really likes Carrie.  She likes to play with Carrie and hug Carrie and make Carrie eat her necklace (Carrie's necklace, not Lucy's necklace.  Lucy does not wear necklaces.)

I guess my fear is that Carrie isn't me -- so she won't challenge her and teach her the way I will, and Lucy might not keep gaining skills.  So I'll have to teach Carrie, in this time, to think like me.  It's amazing how when you have a kid with a catastrophic illness, you do not fear that they will love their caregiver more.  You instead fear that there will be a stagnation in skills, or that they won't be loved enough because they're so different. 

God bless Carrie. 

As for the Other Stuff, well, Travis had a question about Dravet Spectrum Disorders.  So I called our genetic counselor.  Let me catch y'all up. 

DSDs are unlike most, if not all other genetic disorders in that when you break an SCN1A or SCN1B gene, you may have any of the following:  Febrile seizures, GEFS+, ICE-GTC, SIMFE, or SMEI, which is Dravet Syndrome.  I've listed them in order from mild to severe.  We already know that Febrile Seizures, the mildest form, is off the table.  If you want a brief catchup, go here.

GEFS+ is the next one, and the last of these to be classified as "mild."  We've seen the "G" explained as "generalized" or "genetic" -- and so we wanted to know if that meant that there needed to be a family history for this to still be a possibility. 

Look, we pretty much knew, given how her seizures progress, that this one was off the table, too.  And we also are smart enough to know that labeling Lucy at this point isn't helping.  Knowing that she has this mutation helps, but labeling her after that doesn't, except to give us some closure and maybe give us some idea that it has gotten as bad as it can get. Naming the beast doesn't change treatments or meds, or anything.  We still have to be as aggressinve as we can, and we still have to stop trying to limit her abilities as much as we can.  In fact, I think not naming it keeps us from limiting her as best we can. 

But GEFS+ needs a family history of seizures, which we don't have, and so it is off the table.  Which means we are now in the part of the map where there be dragons.

Beware, dragons.  You don't know what you're up against. 

Riding the bipolar train

This.  Is.  Just.  Intolerable.

Okay.  So, we were okayed for the EDCD waiver, and then we got Medicaid funding, and then while I was having a happy little phone chat with a person I discovered that their CNAs are prohibited from giving medication. 

To quote her:  "We can  remind a patient, but we cannot administer."

This isn't great, especially since the patient may be convulsing and might need rescue diazapam. In her butt. 

Results. Finally.

Lucy's mutation is a de novo mutation.  Unfortunately, this may mean that her Dravet Spectrum disorder may be worse -- but on the bright side, we do know that other people in the family that plan on spawning have little to worry about.

A purple rumination.

Yesterday was Purple Day, and I was overwhelmed by the love.  Before I get into the negativity, and while I'm on the love, I can tell there are some new readers (because I'm obsessive and check my stats a lot) and you should know you're welcome. You should also know that you're welcome to comment. A lot of my friends have been making it a habit to email their comments to me, probably because of that post about not telling anyone on Facebook yet. But as you'll see, I should be out pretty soon -- people at work already know about Lucy's diagnosis, for the most part. Anyway, when I revamped this blog and decided that I'd start writing about Dravet, I opened up the comment section so that pretty much anyone could comment on the blog. I felt (and still kind of feel) alone out here, and if that's you too, come on and have a virtual cup of coffee.  Comments are always welcome and appreciated.  Unless, of course, all you want to do is swear at me. 

Of course, there was a lot of love, anyway.  The Supreme Court is finally hearing the marriage equality cases, and so there was love, love, love all over facebook.  It was red and purple everywhere I looked. 

Unfortunately, I kept having a bad feeling about March 26.  I had decided to make it a day of celebration, simply because I decided that bad feelings, unless you are my psychic sister, are hooey.

So I started my Facebook Advocacy posts (those were fun) and got our purple outfits, and a cake, and Travis and I had a special lunch and talked about how our special kid made us a special family -- stronger, wiser, and tougher. 

We did not, however, mention that it also made us more anxiety-driven and obssessive-compulsive.  But you only have to look at my "Doomsday Preppers" posts to know that. 

Anyway, the bad feeling didn't go away.  I fully expected to finally get our remaining genetics tests and finally come "out" on Facebook.  As it is bad either way, I felt like it would explain my feeling (de novo mutation = worse for Lucy; inherited mutation = better for Lucy, one of us has some guilt.)  However, they didn't come. 

But then, last night, we were all in her room.  Travis and I were both cuddled on the big beanbag, and we were reading to Lucy.  She was sitting on the floor, looking at us, and then she did it -- the same kind of posturing we saw this time last year.  It is what we read about here (scroll down to myoclonic seizures) and it is hella scary for us because we actually cannot say it was anything else.  We were both looking at her straight on.  She wasn't doing anything else, and it just pulled her into a totally unnatural position and squished her little face all up. 

It pisses me off to no end, because the doctors at the Hospital We Try Not To Go To But Sometimes End Up At In An Emergency Because It's Closer discounted these a year ago and then told me she didn't have epilepsy and tried to start weaning her off all of her antiepileptic drugs and then caused a REALLY BIG SCARY SEIZURE because she was, obviously, on far too low a dose of her AED.  It's really hard to get these on video because they happen so super-fast.  If you blink, they're over. 

This, of course, is coming on top of the super-scary events of Monday:  I had to go to a doctor's appointment at 4:00.  Travis had to work until 4:30 (he works at home, so he is literally right down a flight of stairs).  I wiggled Lucy's naps back and got her to sleep at 3:30, so I knew she'd be asleep until at least 4:30.  I'm a hero. 

I take Travis the baby monitor.  I go to the doctor. 

I return from the doctor at 5.  Lucy is still asleep.  She wakes up as Travis and I come up the stairs.  We hear one cry, and then it appears she goes back to sleep. 

When we go to get her from the crib (bedtime is between 7 and 8, so we don't need her to sleep too much past 5) she is markedly postictal.  Speech is slurred.  Eyes at half-mast.  She's in a fetal position, and doesn't want to come out of it.  Is disoriented.  Can't sit up.  Her feet and hands are purplish. 

We missed an EFFING SEIZURE. 

Emergency Preparedness, Part 1: Documentation

There are certain things you really need to have with you at all times in an emergency situation.  Among them, a list of medications, the names and phone numbers of your doctors, and your medical insurance information. 

If you are anything like me, you do not have this stuff memorized.

Therefore, I recommend that you prepare it ahead of time and stash copies in 2 places: 
1.  Your purse or wallet or diaper bag, and
2.  Your emergency room bag.  (We'll discuss this bag soon, I promise.  Not that we need to.  You probably already have one.)

But Melly, you are thinking, only TWO?  That's CRAZY.  I need at least 50, so I can stash one in each car and one in the kitchen and one in every single pair of shoes and . . . .

No. 

You need two.  Think logically with me.  You are going to update this document every time you see a doctor.  Every.  Single.  Time.  That means you are going to have to track down every copy and replace it.  And God forbid you end up in an emergency with an old one. 

You need two.  Because you will always either have your purse wallet or diaper bag OR the ER bag.  Trust me. 

But before we get to this, let's talk about your insurance cards. 

I recommend you do this, because it has been the biggest help in the world:  get thee to a scanner and scan that thing, front and back, and save it to your computer.  Now you can print a copy every time you need to go to a doctor.  I've been able to email it.  It's super-handy.  Then, make yourself a copy for the emergency room bag, just in case.  You don't want to end up in the hospital without your insurance information.  I always print our names and "please return" on the copy in red pen, because a lot of times we emd up at a different hospital from the one where we begin. 

Next, your emergency medical information: 
This is a personal document, so I'm going to talk about what needs to be on it, and then give you some pointers about what we put on Lucy's, though I'm not going to post the actual document.  Essentially, this needs to be quick and dirty. 

I keep this to one page, printed on the front.  I think it only needs to be information that is absolutely necessary in an emergency situation, and I try to imagine a situation in which I don't get to answer any questions and can only pin this page to Lucy before the doctors take her away.  What must they know so they can treat her properly?  Keep in mind, they'll only have time to skim, so your information needs to be bullets, and user-friendly to the doctors.  Try to pay attention (it's hard, I know) to the questions that the doctors ask most often so you can anticipate the information they need and in what order.

So what, specifically is on our document?  The following, in order -- although it is formatted out much like a resume. 
* Title (Emergency Medical Information)
*The date the document was last updated.
* Lucy's full name
* Lucy's date of birth.
* One sentence identifying Lucy's diagnosis. 
* One sentence identifying her unusual drug reaction to a common emergency anti-epileptic.
* Her neurologist's advice for doctors unsure about how to handle status epilepticus. 
* Her weight at last checkup.  I give this in pounds and also convert it to kilograms, and I recommend you do the same -- don't make the doctors and nurses waste time finding a calculator and doing a conversion. 
* Her list of current medications in the following format:
BRAND NAME(generic name) 00mg/mL sol 0x daily
* Information about her immunizations.  In Lucy's case, it's one sentence indicating that her immunizations are up to date. 
* Names and contact information for her pediatrician and neurologist.
* Our names, address, and contact information. 
* Brief information about Dravet Syndrome disorders, as most doctors in Emergency Departments haven't encountered them.  I yanked this mostly from dravet.org, and added a Lucy-specific sentence:

Quick info about Dravet: 
Dravet Spectrum Disorders describe a group of related epilepsies having a similar genetic cause, most commonly mutations in the SCN1A gene which encodes a sodium ion channel, NaV1.1, found in the brain. The Dravet Spectrum Disorders include the following syndromes, listed from least severe to most severe:  Familial Febrile Seizures (FS); Generalized Epilepsy with Febrile Seizures Plus (GEFS+) Intractable Childhood Epilepsy with Generalized Tonic Clonic Seizures (ICE-GTC); Severe Infantile Multifocal Epilepsy (SIMFE); Severe Myoclonic Epilepsy Borderline (SMEB); Severe Myoclonic Epilepsy of Infancy (SMEI); also called Dravet Syndrome.  These syndromes encompass not only epilepsy, but also often intellectual and developmental delays along with comorbid conditions.  Lucy’s doctors have not given a definitive diagnosis as to her specific syndrome yet – they are waiting to see how she develops.  If you need more information, please go to dravet.org.

Okay.  You've probably now figured out why you'll be updating this so often.  Every time there's a meds change, or your kid gains an ounce, this document gets trashed. 

So I keep one in a folder in Lucy's diaper bag with a pen, so I can mark changes to make when I get home (it's with me in a doctor's office, natch.) and 6-8 copies in a folder in the emergency bag, along with a copy of our insurance card. 

Why so many? 

A lot of times, we get about 4 doctors and nurses asking questions and shouting instructions to the point person, or doctor who is actually working on Lucy.  These people keep walking in and out of the room, and I've observed that the best way to handle things is to pass these documents out like I'm wearing a hot dog costume. 

Anyways, I hope this helps.  Good luck with preparing for your own emergency.  I'm so sorry you had to do this. 

Just a quickie, to cheer you up after yesterday.

Lucy climbed the stairs today.

YOU GUYS.  SHE CLIMBED THE STAIRS TODAY.

I mean, I had to sit behind her and hold her butt and also throw her blankie up three stairs at a time but she did it.  And you know what the best part is?

She decided to do it. 

My kid is awesome. 

Ugh, that look.

I know a lot of moms get it.  Probably every mother of a child with special needs.  Especially the moms of kids who have special needs that aren't immediately obvious.  I mean, look, if Lucy had to carry around an oxygen tank people would know how to arrange their faces, but she looks completely normal except for one teeny-tiny thing.

She's teeny-tiny. 

And I mean really teeny-tiny.  She is 18 months old and mostly wears 12-month-old clothes.  She can shock a granny in the grocery store with how well she talks -- because nobody expects a 1-year-old to say "turtle" and "Charlie" and "biscuit."  Well-meaning assistants in our favorite toy store suggest toys she's waaay to advanced for.  And when, inevitably, a stranger comes up to me and says, "Oh, she's adorable! How old is she?" I have to admit, I do sometimes think about lying.

But I don't.  I tell the truth.  I tell them that she is 18 months old.  And then I get that look. 

They nearly always look shocked.  And then they try to cover it up.  Some of them start talking about something else. 

Some of them tell me that it's okay, that they knew a kid who suddenly GREW.  Like I asked, or intimated that I was worried.  Asshats. 

Some of them just find a way to walk away.  And tsk as soon as they think I'm out of earshot.  I HEAR YOU OLD LADIES!!!!

I figured out today that I'm carrying around a lot of anger and resentment because of all of this judgment.  I mean, I thought I had been shrugging it all off, because I can't expect everybody to just KNOW.  And it really takes 3-4 sentences to get to it:  "Lucy has intractible epilepsy.  It doesn't respond to most medications, so she has to take a medication that has an unfortunate side effect -- anorexia.  No, there really isn't anything else.  Yes, we are monitoring her weight and growth with a doctor."

But today broke me down.  We took Lucy in for her 18-month checkup.  As she is now too long for her 12-month pants, I diaper-pinned 18-month pants to her. 

The nurse came in and introduced herself and said, "So we're seeing Miss Lucy for her 15-month checkup, right?"

And I said, "No, 18 month."

And she looked at Lucy.  And then SHE GAVE ME THAT LOOK.

I know she didn't mean to.  She recovered fast.  I held it together until she left. 

But I was pretty upset, and it is awful to have this kind of judgment rain down on me.  As though I'm in some way trying to hurt my kid.  As though I did something to hurt her on purpose, or by neglecting her, or simply because I'm not smart enough to know. 

An addendum to yesterday's post

So, as I had to hurriedly finish yesterday, as naptime was not half as long as I expected (or hoped), I am planning to tell my cousin and family. I just want to have all the information before I do. I don't want to start the conversation with "Hey, cuz, your kid may be a ticking time bomb, but I'll be able to tell you more in three months after the lab gets my results back, try not to worry until then." My sarcasm is veiling some anxiety. I do not actually want to have this conversation with my cousin, because I really don't want to have to bring bad news. I'd rather be able to call her up and say "Lucy has a genetic condition, but it's only her. So you don't have to worry unless you really want to."

Why I don't tell Facebook.

1. Nobody at work knows about this blog yet.
2. My cousin the germophobe who stays home with her baby also doesn't know about this blog yet.
3. My mom's best friend is my facebook friend.

So let's go one at a time here:

1. Nobody at work knows about this blog. Let's take a purely practical stance here. I live 45 minutes from the shitty hospital with a PICU and 90 minutes from the good hospital where our neurologist is based with a PICU. Every single time Lucy goes into status, we get airlifted to one of these hospitals. It costs us approximately one year's salary for each flight. Our insurance has been awesome about covering this, but there's a couple of things we worry about: (1) we have a $2 million/year cap which at some point we might actually meet because of this; and 2. remember I said the closest hospital is shitty? We have to try to convince the local ER doctor to send us farther away to the good hospital, and I'm not always successful. The last time we were there, the doctors not only tried to kill Lucy themselves, but then they tried to instruct us to kill her. So we might need to move to put us closer to the better hospital, which will mean that I might need to not go back to work. Please don't tell my boss.

2. My cousin is a germophobe who stays home with her kid. Her kid who is the EXACT same age as Lucy. Hold onto that thought for a moment, and consider this one: DSDs are genetic disorders. Sometimes they are de novo (which means that Lucy's genes broke themselves) or sometimes they are inherited. So we are going back for some parental cheek-swabbing in a few weeks. Our google-researching tells us that if it's inherited it's better for Lucy. However, I've been told that my cousin's kid has never had a fever. Since Davet's frequently presents as febrile seizures, I'm a little freaked out by this. So I can't say "Dravet" on facebook, because I don't need her googling yet.

3. My mom's best friend is my facebook friend. And my mom thinks she's a doctor who can solve this by rereading medical textbooks from 1964. I'm not ready to say "Dravet" to mom yet, because I'm not ready to tell her what it means yet. But I suspect it's coming, because I'm getting tired of telling people that Lucy's last seizure is not her last seizure, if you get my drift. And the final reason, ultimately: our neurologist, who really is awesome, isn't nailing down a diagnosis yet. Lucy has an SCN1A mutation. We know that. I've had a professional come to the house and look at her, and I know that Lucy has some significant gross and fine motor delays. I also know that intellectually and verbally, she's doing fine. She has a huge vocabulary (between 75-150 words) uses simple sentences, follows some 2- and 3-step commands, and is even starting to use pronouns.

Dravet is a scary thing to say. Any of the diagnoses are scary. When they first told us she had a seizure disorder, that is all I would say. I couldn't bring myself to say epilepsy, because that sounded worse. It also made it true. I don't know if I'm ready for this to be true. This is a link to a video about a girl with Dravet's called Ciara's Light. Some seizures are shown, so it can be pretty upsetting. Also, the mother discusses the possibility of SUDEP, which every episode of status seems to make more possible, along with the terrible possibility of death during a seizure.

What? I'm back.

And where to begin?

I guess with some of the big stuff I don't tell Facebook. Let's go ahead and open Pandora's box. Lu has a Dravet Spectrum Disorder. On facebook, we call it a "genetic mutation" that causes her epilepsy. We call it this because we haven't yet completed the testing that will tell us if it is a de novo mutation (a new mutation that occurred in Lucy alone) or an inherited mutation from one of us. Kind people, some of whom are related to me, keep telling me that they are sure that one day she will outgrow these seizures.

It will never happen.

 Lucy will have seizures her entire life. This syndrome will affect every aspect of her life. 20% of the individuals diagnosed with these disorders do not live to see their 18th birthday. I can't find statistics for life expectancy beyond that -- but I have yet to read about a Dravet patient living into his or her 80s.

Lucy is already experiencing some pretty severe motor delays. She has some obvious immune disregulation, though we haven't and probably cannot back that up with science. I took her to Lowe's for 20 minutes over the weekend. I wiped the cart with Lysol wipes and used the cart cover. I didn't let her touch anything and stayed 10 feet away from all people, including the checkout person. She now has a cold. I am home with her now, on leave from work, though I can't guarantee how long that will happen. Because of Lucy's fragile immune system, we're not sure if it's safe to put her back in daycare; or if it will be safe to expose her to the germs I could bring home; or if it will be safe to bring another person into the bubble to be her nanny.  There are so many uncertainties -- it's hard to make the right decisions.

In Greek and Roman myth, hope was at the bottom of Pandora's box. We think of this as a gift -- after all of the awfulness, a ray of light. I suppose that could make sense -- Lucy's name, after all, comes from the Latin word for light, "lux." However, the ancients would have recognized hope as the cruelest of the punishments in Pandora's box. Hope allows for the idea that life might change -- that things might get better. The cruelest part of Dravet's is what it ultimately takes away -- the child you had. You see, children with Dravet's often develop mostly normally for the first 2 years of their lives, and then they begin to regress. When we look at our little light, we often wonder if we might lose her. Slowly. A little at a time.

Before and after

I am a worrier by nature. When I had a kid, I just simply ramped up the worrying, but that's really because there's just more to worry about. I mean, you get to run the wprry-gamut from whether baby is cold or hot or sick or comfortable to worrying about a plugged tear duct and dry skin and unusual discharge.

And then, on Thanksgiving, there was a line drawn, and I went to a new level.

Baby had some sort of event on Thanksgiving. She had a tremor in her left arm; or some sort of seizure but only involving her left arm. We spent that evening in the emergency room at a country hospital in KY and then in the pediatric emergency room at the University of Kentucky. She spent two days at Children's Hospital. They ran every test*. They all came back negative. So they discharged us with a diagnosis of "dystpnic posturing" which we both googled and got freaked out about and have sworn off the googles because of. I know that's a lot of poor preposition use. Bite me.

We made an appointment with our pediatrician before we left the hospital. We were hoping that it was a fluke of sorts -- after all, there had been no activity while we were at KCH.

And then yesterday, I saw the shaking again. And again today. So either it's simply something she does and we're overprotective or something is wrong and nobody knows what. I keep looking at the pictures we took Thanksgiving when she met her paternal grandparents. They are from "before." We live in the "after," where we're all scared.

*I am not joking. From 10pm on, we were in an episode of "House" -- they did a lumbar puncture, an mri, an eeg, bloodwork. Travis and I were waiting for one of the residents to say "auto-immune."