Sunday, May 27, 2012

Stroke Of Genius or The Blind Leading The Blind

I've always been considered the smart one in my family.  I love books and learning.  I got pleasure in getting good grades.  Now I am not so sure.  Let me tell you a story...

Once upon a time,
There was a girl who needed new contacts.  She waited, far past the time of need, but eventually got new ones to replenish her supply.  New doctor, new city; he made some changes.  Gave her "new and improved" contacts.  She bought a years supply.
The End
This little story prefaces all that occurred in the last few days.  Now, I have been wearing glasses or contacts since the fourth grade.  I now have a pretty darn hefty prescription.  Even optometrists admit that I am blind.

Tuesday, I started having eye pain and drainage.  I thought that maybe I had caught something from Cole.  *as a side note, Cole is currently fighting a sinus infection, eye infection AND an ear infection*  Being the busy caregiver that I am, I just wore my glasses on Tuesday and Wednesday and put up with it.  I don't like to drive with my glasses, because I can not wear my sunglasses and I am photosensitive (though light does not cause seizures, it just makes me have a headache).  However, I had a LOT of places to go on Thursday, so I put on my contacts.

On Thursday, my nurse didn't show up.  I had to go visiting teaching.  I had a haircut that I was in desperate need of and had scheduled three weeks earlier.  I needed to take something back to Old Navy.  I had to drag Cole and Slugger around for all of this.  Not an easy task.

I asked Brian to come home early and he took the boys.  I went to two different campuses for my new school.  I had to bring (not kidding) 10 different documents proving that I live in this state so I can get in state tuition.  Then I had to go to another campus to register for an Anatomy class.  Prove to them with my old transcripts that I have taken Human Biology and register for the second summer block.  After that, I went to my friend's baby shower.  All the while, I did not feel very well, but attributed it to the fact that I am extremely stressed and tired.

On the way home, Thursday night, my vision blurred while I was driving.  I just thought again about how tired I am and attributed it to the stress of our life right now.  Got home safe, went right upstairs and took off my contacts.  At this point, my right eye would immediately close if anything (i.e. a finger) came near it, so I had to pry it open with my other hand.  It was really painful.  I took out my left contact and noticed that I could still see.  Wow-that is so weird.  I proceeded to get into the tub, where I did not stay long, since temperature changes can trigger seizures for me.  I had put a warm washcloth on my face and vigorously rubbed my eyes.  Still blurry, yet I can see with my left eye.  I put on my glasses and realized that I can NOT see out of my left eye with my glasses on.  My right eye is blurry, with glasses....can not see at all without them (which is normal).  My head was throbbing at this point.

Knowing so much about neurology, strokes, seizures, post-ictal blindness and sometimes not so good.  At this point, the left side of my face was starting to tingle and had that pins and needles feeling.  I was certain I was having a small stroke, since I have had one before (doesn't this sound like a stroke to you?).  I kept closing one eye, switching to the other, the results were still the same.  I would rub them...results were still the same.  I could not see out of my left eye if I had my glasses on.

We could not leave Cole with someone else, he wakes up multiple times a night due to his seizure activity and if he found someone besides mom and dad, he would freak out-therefore causing more seizures.  After much discussion, I had Brian call a good friend, and drag her out of bed, to take me to the ER.  We, being regulars, looked up wait times before I left.  It seemed that our favorite hospital had an hour and a half ER wait.  No thank you.

My saint of a friend showed up.  At this point I was extremely nauseous and scared.  If I can't see-I can't do anything.  I can't drive, go to school, take care of Cole, the list goes on and on.  My friend took me to the nearest hospital with the shortest wait time.  Turns out, that going by wait time alone was not a good idea.  Multiple people saw me, all looked in my eyes and shook their head about how weird it was. The nausea got very intense and I was sure I was going to puke all over the bed.  The pain was intense.  I could barely see out of either eye at this point.  Here is a lovely picture of me, sans makeup, in the ER.

It took me 3 hours to get an IV.  It was 5 hours before they moved me to the floor.  During the wait, they performed a field of vision test where I saw 20/30 with my left eye...without glasses.  I could not see the letters with my right, without glasses...which is normal.  When I brought both eyes together, there was supposed to be three white columns, each having small black letters in them.  I saw three columns, but there were no letters in the far right one...with or without glasses.  At this point, I was starting to panic inside.  The tech who performed the test had me step aside, put her eyes up to the machine and confirmed that there was indeed letters inside the third column.  So-my prescription has reversed in one eye and I can not see things which are indeed there, which could be a structural change in my brain.  Now, I am great under pressure and am able to keep calm and collected.  However, inside I was freaking out, thinking of all of the implications that not being able to see would mean for me and my family.  Due to that lovely genetic mutation I have, I was able to carry on conversations with medical professionals, even with IV Dilaudid in my system.

I sent my friend home after she had been there for a few hours and I knew that it was futile to have her at my bedside in the middle of the night when she has three small children to take care of.  Sent texts to Brian that he stopped responding to at this point (that man can sleep through anything).  I explained my predicament over again, to baffled doctors.  They just suggested that an opthamologist would be able to understand it better.  The MRI team had gone home at 11, shortly after we arrived, so I was told that I was the first in line for 6 am.  Got some hefty pain meds and good stuff for nausea and was settled in to wait for my test.  I woke up when it was light and noticed that 6 am had come and gone.  The hospital food was THE worst that I have ever tried, and I have tried my share of hospital food.  I was getting discouraged at this point (around 1 pm) because the floor was acting just like the ER.  I would ask for something, and had to continue to ask even two hours after the initial request.  Brian came in the afternoon and made a fuss about me not having an MRI yet, they finally changed the order to STAT.  My vision is still messed up, but I can see clearly out of my right eye at this point.  Left is still reversed.  Friend brings by one of the prettiest nosegay's I have ever seen.  Complete with Spider Mums, Bachelor Buttons, Dusty Miller, Bells of Ireland, Roses and more.  So, so cute and thoughtful.

Eventually, around 2:30 pm (remember, I was supposed to be first in line) I get an MRI and an MRA.  I then go and get a Bubble Echocardiogram.  Turns out, my device is still in place and no bubbles passed the barrier...that is good!

Around 4:30 they tell me that the MRI and MRA are clear.  If I had a TIA, it is not showing up.  Which is good news.  I am then informed that they have an opthamologist who is waiting for me, an hour away, and is going to stay open just for me.  We have to continue to wait for orders, don't get out of there until well after 5:30.  Call the opthamologist to tell them that we are on their way and they inform us that they have packed up and left.  Awesome.

So, what does a girl gotta do to get a full night's sleep around here?  Apparently, get herself admitted to the hospital and have some major drugs on board.  I came home and went straight to bed, sleeping over 10 hours.  It was lovely.  Woke up and still had the eye problems.  Eventually made it to the Opthamologist who asked me, "Are you sure that you don't have a contact in that eye?", referring to the one that I could see without glasses and could not see with them on.  Okay, I felt foolish.  Why hadn't anyone else thought of asking that...including me!?!  I furiously scratched at my eye, to prove to myself that I didn't indeed have a contact in my left eye.  Nothing came out.  I clawed at and touched my eyeball to see if I could move it from side to side.  Nothing.  I couldn't have a contact in my eye for three days, I would have noticed!  When I woke up, it would have stuck to my eyelid, just like they always do when I fall asleep in them, for almost 20 years!

He told me that he was just going to check to make sure.  Put the machine up to my eye and asked, "Would you like me to remove your contact for you?"  I am flabbergasted at this point and just nod my head, thinking about the MRI, MRA, CT, Echo and everything else when it was just a measly contact.  Another friend, who had driven me to the doctor, started to giggle.  These things only happen to me.

The Opthamologist did more tests and determined that these "new and improved" contacts have not been letting enough oxygen into my eyeballs, and have caused an ulcer, even before the ER.  The ones on my right eye have started to heal, because I have not been wearing contacts almost all week, the left is obviously exacerbated because I had constantly been wearing a bad contact for 3 days.  The poor circulation of oxygen practically glued it to my eye, so that is why there was no shifting.  SO, the mystery is solved.  I had a major migraine, not a stroke.  I did indeed have acute vision changes, but not so miraculous as we thought.  The nausea, the pain, the face tingling-all because I am stressed out and have been overusing the wrong kind of contacts.  The doctor told me that I should stress less (awesome advice, doc).  He also gave me antibiotic drops to help heal the ulcers and admonished me to not wear contacts for a month and to get new ones.

I am a genius.  Why didn't I think of something so obvious.  Why didn't someone else think of something so obvious?  I could have just gotten some pain and nausea meds for my migraine and gone home.  Moral of the story, don't mess with your eyes.  Hurting them can lead to all other kinds of symptoms.  Oh, and for the love of Pete-if you can miraculously see without your glasses, PLEASE make sure you have taken your contacts out.

Sunday, May 20, 2012


Medical Dictionary
regression  re·gres·sion (rĭ-grěsh'ən) Noun
  1.  A subsidence of the symptoms of a disease.
  2.  A relapse of symptoms.
  3.  Reversion to an earlier or less mature pattern of feeling or behavior.
  4.  Relapse to a less perfect or developed state.

I have not been really up to date with Cole's condition on this here blog.  Although I try to keep it real, I don't write about every thing that happens in our lives and every thing that I am feeling.  It will stay that way, since the majority of you are people that I have never met.  However, sometimes I feel like it is important to be honest about the reality of Dravet Syndrome.  I think that it helps to know that someone else out there is going through the same things.  Feeling the same frustrations.  I try to be positive and funny most of the time but in the end, this is my reality.  

The truth is that the last few months have been kind of a hazy blur, punctuated by seizures and watching our little boy slip away.

Dravet spectrum disorders are regressive.  Children with Dravet Syndrome often regress and lose skills.  Sometimes they regain them, other times they do not.  Things can be fine and dandy in the developmental region and then one day, one seizure amongst hundreds, can take away their ability to talk or their ability to walk.  You just never know where and when and how.  It is the how that is the most frustrating.  These kids can have a 3 hour status seizure, and be just fine afterwards, but it is a 3 minute seizure that ends up sending them to heaven.  The unpredictable-ness (is that a word?) of it all drives more than one parent to this side of Crazyville.  Me included.

We have just stopped recording seizures.  It is not the smartest thing to do, since you need to recall the last time something happened.  But in all honesty, it is just downright depressing.  How many, what meds, when did we call the paramedics, what did it look like, how gets to be too much.  When we were asked how many on average we thought he was having per week, we just had to shrug our shoulders and lift our hands in the air.

The last six months have been more than a roller coaster.  The ups and downs have made me want to beg the operator to let me off of the ride, so I can lose my lunch by myself, and not in front of everybody who is watching.  Alas, I am in it for the long haul.  December was incredible, a true miracle.  We said that there were angels with us, one named Slugger, and we have only gained a deeper appreciation for that little respite.  January invited the tonic-clonics back into our world and then it just kind of went down hill from there.  February someone was sick the entire month, and Cole only attended school a handful of days.  March things picked up and the myoclonics were forceful.  The eye flutters showed up on a daily basis, but were to the point that I could count those particular seizures.  I remember talking to a friend during the National Walk for Epilepsy about eye flutters and commented that my son's had never been as bad as her son's.  I just watched in amazement at this little boy, who looked like his eyes were constantly rolling and his eyelashes were batting up and down so often it kind of made you dizzy, and thought, "At least we don't have THAT problem yet".  I set myself up.  

April was more than interesting with a couple of trips to the hospital and an ICU stay.  However, there was one 35 minute seizure that changed it all.  Not long in length, considering, but after that particular seizure Cole took more than 2 steps back.  He slid, like he was on a slippery slope and had lost his footing.  Bouncing down the hill, his speech took the biggest hit.  He started to stutter-really bad.  He has regressed and reverted to oral phase and is sticking everything in his mouth-like an infant.  I even had to physically move him because he kept chewing on a table in a restaurant.  He is particularly stuck in the phallic phase and is constantly touching himself and exploring.  Not so great when you are in pre-school.  He is back to toe walking, giving himself propioceptive pressure.  He can not even go to the bathroom or take a drink, without seizures interrupting the most simple tasks.  He can not communicate his desires very well and it makes him very frustrated.  Brian and I would watch videos of our little boy, from February, and we would just get sad.  Our smart, witty child was completely different.  Here we are near the end of May and these skills have not come back.  Before, he has always bounced back to baseline within 4 days.  It has been over four weeks.  Cole is 4 and a half.  Almost to that magic number of 5 years old when most Dravet kids start to plateau.

May has been full of new seizure types.  Ones that have no warning or leader seizures.  We have been plowing through rescue medication like a kid at a candy store with his allowance clutched in his fist.  Every day we walk an extremely fine line of, "Should we?".  The meds have been losing efficacy, but it is obvious that he needs them.  At this point, Cole is constantly seizing, going to seize, or recovering-so he smells like a seizure the entire time.  Even if I try to bathe him after a tonic clonic.  Slugger has not alerted in over 3 weeks.  It is like going into a house that reeks of garbage, but by the end of your visit you don't even notice it.  Slugger is so used to the smell of "Seizure Cole" that he can't do his job.  It is heart breaking.  Even though he is a wonder dog, he is not a robot.   

I will do a more in detail post of our Miami findings and new action plan later, but the bottom line is-Dravet has proven to us, again, that it can always be worse.  Comparative to Cole's EEG from last year when he was having 70-200 seizures per day, he is now having 200-400 per day.  On some days, I am sure we rocket into the thousands.  

It is so hard to watch your child struggle and be totally helpless.  You know in the back of your mind that you are doing every thing humanly possible to help them, but you still hate to see them suffer.  

In the midst of it all, there have been some great little moments.  This kid is a champion and he teaches me about strength.  He will still blow me away and do crazy things like singing the alphabet for the first time, ever.  In this period of strife he has been able to count to 10 without skipping a number.  Little things have become giant things and we so appreciate them.  We jump up and down to celebrate milestones that others might take for granted.  In between the bouts of Keppra rage and the calls to 911, this boy has shown me that I can never underestimate him.  Put no expectations on him.  Even if I think it can't get worse, and I know that it can, he proves to me day in and day out that he is a true Mini-Hulk.  So, in between all of the bad-we try to be happy.  There are days of tears and more days than I would like to admit where I just wish that I could crawl under the covers and hide.  He gets me moving though, my little boss.  If I am late for work, he will definitely let me know.  Crawling in with me and snuggling in between the twitching.  A bittersweet 4 am wake up call.  

Saturday, May 19, 2012

Things People Say To Service Dog Handlers

Pardon the title of this video, obviously I did not create it and I don't swear.

I admit, this made me literally laugh out loud more than once!  I think we hear, "They must be training that dog," or "Why is he wearing a muzzle?" every time we go out in public.  We have had someone say almost every single thing in this video, and more, to us in the last six months.  ;)

I think my personal favorite Slugger story comes from when we were at Disney.  A young adult proclaimed, "Look at that dog!  That is the saddest thing I have ever seen.  That is just so awful!"  I wanted to turn to her and say, "This dog LOVES his job and um-did you notice he is at Disneyland?" amongst other things.  I also laugh when people run up and take pictures of Slugger like he is a celebrity, without asking or anything.  It is like the paparazzi when we are at a place when you would not normally see a dog.  I  just laugh and shake it off most of the time.  Sometimes we will actually tell people who are passing by and whispering (why do they all assume that we can't hear them?) that this is indeed a working, fully trained service dog and he is for my little boy.

It is important to educate others about service dogs and we do it on a daily basis.  This, is for fun.  I hope that my fellow service dog handlers get a giggle out of this.

Thursday, May 17, 2012

Sometimes I Don't Want To Be A Tiger...

I would really prefer to be a sloth.

Good for me I have a stubborn streak and a dose of perfectionist. It means that things still get done (not every thing), even if I wish that I could just sleep in a tree for 18 hours a day.

It seems like I have been a full-time Tiger Parent lately. I mean, I always am...but the last few months I have been roaring so much my throat is sore.

The trip to Miami was good, but long. I always have a mixture of anticipation and dread when we visit. It usually means something new, which can be good or awful. I do love the team there though, it makes something that is so stressful, semi-enjoyable. I love that we have doctors who will listen to me, feel like they can give me their opinion without forcing it on me and in the end do what I ask. I truly value their expertise and when they suggest that something is or isn't necessary, I take them seriously.

I love that I get to meet new parents there. Some that have been Tigers for a long time, some that are still cubs, wet behind the ears, still trying to get their bearings. We all have something to give each other.

I think that I will save our findings and a full update on our trip for another post. There are some changes on the horizon. It will take months to see if it is even going to work.

With IEP's, Medical Review Boards, new nurses, Cole's condition putting us in a constant scramble to get a handle on it, trips to Florida, my own health deteriorating and everything else that is going on in my crazy life; I also have to give in to the nagging feeling that it is time to go back to school. Yep, in my spare time. A death wish on paper, but I can't deny that I have been thinking about it for a long time and I feel like I need to start now. All so that I can provide better for Cole.

Maybe I should have my head examined. I could be transforming into a jungle cat.

Monday, May 14, 2012

The Best Mothers Day Present

I have been trying for years and years to get Cole to say the alphabet.  I sing the song to him every day.  We watch videos on YouTube.  He has apps on the iPad.  It is not a forced, "must do this" kind of thing anymore, but routine.  I had accepted that he just may never be able to do it, but did not give up hope.  It is a developmental milestone, so we still worked on it.  

Cole gave me a wonderful Mother's Day present this year.  He sang the entire song, unprompted.  Without stuttering.  I was so shocked, that I asked him to do it again and pulled out the phone to video it.  It gave me chills.  I have no idea if this has anything to do with the new dose of Keppra he is on, or if it just finally clicked, like it did with potty training.  He has not even made it past the letter D before.  Regardless, I was thrilled.  It made my eyes water and my heart sing.  For my first Mother's Day, he rolled over for the first time.  That was a few months before his first seizure.  

So, I present to you-my Mother's Day present.  My baby, at four and a half, singing the ABC's for the first time!  Only missing one letter and replacing P for V.  

Friday, May 11, 2012

Exciting Research

This announcement just came out:

One of the distinguished speakers at DSD4 is Jing-Qyong Kang, MD, PhD, of the Vanderbilt Brain Institute, Vanderbilt University Medical Center, Nashville, Tennessee. Dr. Kang was awarded the 2010 Dravet Spectrum Disorders Research Award. Dr, Kang's main research goal is to try to understand the molecular basis of Dravet Spectrum Disorders that are associated with GABAA receptor gene mutations, in order to identify possible therapeutic targets.

Dr. Kang explains her pioneering research: "As we know, mutations in GABAA receptor and SCN1A genes are frequently associated with epilepsy ranging from simple febrile seizures which remit as patients age to severe epilepsy with mental compromise like Dravet syndrome. In general, most Dravet syndrome patients are associated with mutations in SCN1A. There are a few pedigrees of Dravet syndrome are associated with mutation in GABRG2. Animal models have demonstrated that SCN1A mutations impair GABAergic interneuron activity. Thus understanding GABR mutations may shed light on understanding the underpinning mechanisms of both groups of genes.

"In the last two years, with the help of the funding support from Dravet organizations, we have characterized a number of GABRG2 truncation mutations associated with epilepsy/Dravet syndrome. We have demonstrated that all these truncation mutations resulted in the loss of function of the mutant alleles. These mutant GABRG2 subunits may have different protein stability and are degraded inside cells at different rates. Consequently, the different GABRG2 truncation mutant subunits had different dominant negative suppression on the biogenesis and trafficking of the wild type partnering GABAA receptor subunits. "

The different truncated mutant GABRG2 subunits have disturbed the cellular homeostasis which may lead to neuronal dysfunction at different levels.

"We hope our work could help pave the way for identifying a novel therapeutic target other than the conventional anti-epileptic drugs which may eventually lead to a cure for at least a subgroup of epilepsy/Dravet syndrome patients. I am extremely grateful to Dravet organization for supporting my research." 

Meet Dr. Kang and other Dravet experts at DSD4.
Requests for small group patient/family consultations with faculty physicians are available on a first-come, first-served basis.
Space is limited, so register today for:
 The 4th Biennial Professional and Family Conference for Dravet Spectrum Disorders
August 16-19, 2012
Minneapolis, MN
Also, this article gets me excited and features our own beloved Dr Miller

Monday, May 7, 2012

What I Want To Remember About Today....

This is what I want to remember about today...
My baby and his dog, swimming in Grandpa's pool, just like any other kid.
Never mind that he has special lenses in his goggles. Never mind that his dog is a specialized, highly trained piece of seizure detecting equipment. It's just a boy and his dog, playing in the water.

  I don't need to remember this. 
Or putting on his cooling vest to bring down his temp because the "normal" stuff wasn't going to work.  Or this, including the vomit during-which is so scary.  
Right after our lovely swim, too.  Bummer.

I much prefer images of my boys, hanging out on "vacation".  Never mind that we are actually here to go to the hospital.

I like the picture of my beautiful, well-bred dog doing something that his natural, normal instincts are primed for-retrieving in water.
I don't need to remember calling 911.  I will remember to be thankful that we didn't need to take that ride they offered us. 
I don't need to remember that my body thinks it is funny to have kidney stones at the most inopportune times when I am totally stressed.  Or that we seem to bring the bad juju with us, causing my in-laws water heater to bust.  So yes, it is us...wanna invite our family over? ;)

 I don't need to remember this, which was worse than the first one. Or the 102 degree fever, amongst other things, that came with it.
This is what I want to remember about today. I want to remember that, for a moment, we had a normal, joyous outing in grandpa's back yard. We got a brief respite from our not-so-normal life.

 This is what I choose to remember.

Thursday, May 3, 2012

Hey, There!

Haven't been very productive this week, sadly.  Cole is really struggling right now.

It breaks my heart to see him regress.  I know that it is this stupid Syndrome, but I am still his mom, and I want to fix it.  Or at least pinpoint why certain things are happening and see if I have the capability to actually fix it.  Playing detective is hard work.

Hopefully Miami has some answers.

Oh, and pardon my dust. There is some tinkering going on.
Photos by Capture Me Candid