So now what....

So we've been waiting since November 5th to hear if Cadence has the genetic deletion or mutation associated with Sotos Syndrome.  As of my last post, neurology had called to say they'd re-looked at his MRI and now found some abnormalities.  Rather than sad, as I was when we started looking at a name, I was optimistic.  Even more evidence that we were not only heading in the right direction, but might actually be able to put all these puzzle pieces into the complete diagnostic picture.  

So I waited for the call, but was pretty confident I knew the answer and was just planning our next step.  That call came the Friday before Christmas, and once again, was not what I wanted to hear.  He does not have the  mutation or deletion.  I was completely dumbfounded.  This was not at all what I expected to hear.  Now I understand, it is counter-intuitive to be wanting an abnormal test result.  Most people would be jumping up and down that their kids chromosomes all look normal.  But when you know there is something abnormal going on, but can't quite figure out what it is, having one more test saying everything is "normal" is disheartening.  

I went through this several times when Cadence's seizures started.  We had several EEG's that said everything looked normal, even though I knew all wasn't normal.  I had to push and push to get an overnight EEG that finally showed what I had been saying all along - that he was having seizures.  In fact, it showed many more seizures than I was even aware of.

Now I'm not going into every test hoping they'll come back quirky or bad.  Hearing his MRI was normal was very relieving.  At that time we didn't know if he had a tumor or something else horrible going on that was causing his seizures, so that was fantastic.  But living in this world "undiagnosed" is very unsettling.  There is part of me that wants to think that all the pieces are unrelated.  Maybe he's just got some weird quirks.  But there's a much larger part of me that knows that the chances that all of these things are not related is pretty slim.  

So the roller coaster continues.  I let this result sit with me over the holidays.  I let it soak in, did some more research and reflecting.  And I know I said I wished I hadn't asked the question, but now that I got so close to a diagnosis, and started to feel what it would feel like to be able to say this is what Cadence has, I don't want to let that feeling go.  So we may be having some more tests.  Talking to some more doctors.  Now I want to try to finally get an answer.  We'll see where it takes us.  I might flip flop again and stop looking.  I might have to decide to wait for research to catch up to us.  But for now, I'm pushing on.

Neuro update

I hate when I ask a question, get the answer, then find myself with more questions....

So we are 6 weeks out from sending Cadence's chromosomes off to see if they can find the Sotos gene mutation.  Because I have zero patience I've already called and they have not heard anything back and probably won't until after the holidays.  

We are also about that far out from our last visit to neurology.  Because we are now looking at Sotos, and there can be brain abnormalities and seizures associated with that, I wanted to know if we should have another MRI or if we could have his earlier MRI (done about 2 1/2 years ago) re-read to look for this.  I went in wanting to have another one, just to be sure.  But his neurology nurse practitioner reminded me that he has to be sedated to do that, so it's not a test we just want to jump into.  Not to mention it ain't cheap! So she said she would check with neuro-radiology to see they could just re-read it in light of this.

As always, I had to call them to get my answer.  I was pretty surprised when the nurse called back to say that his MRI  was originally read as normal, but now that they've re-looked at it, they do see several of the associated abnormalities.  I haven't been able to get a lot of information on these "abnormalities", but they did say that it was all subtle.  She said they are now waiting to hear if they can just "amend" his original MRI to reflect these new findings, or if they'll have to do another to have it documented.

Now I want an MRI more than ever.  

I'll wait until after the holidays and until after we hear about genetics, but I have so many more questions now.  I want to know what this means for his seizures.  I want to know if there have been any changes in the last 2.5 years.  I kinda want to know why what was normal then is abnormal now.  But, we've been waiting this long, what's another couple of months.....

Storytime

Yesterday started off such a sweet day.  Glenn, Connor and I attended Cadence's Christmas concert at school in the morning.  It was an event he had been so excited for and it did not disappoint.  How can you resist sixty 4 & 5 year olds belting out Christmas songs?  As expected, Cadence did not participate in the singing (he said he was too tired) but he was happy to be there and I so loved it.  

After the concert I left the boys at home and went to work.  My heart filled with love for my family and the joy of the season.  That joy was soon shattered, along with the rest of the world's, when I heard of the senseless tragedy in Connecticut.  So incomprehensible and all I could think about was all the sweet little faces I had just seen and getting home to my own babies.

We spent the evening with extra cuddles and family time, and then, as always seems to happen, Cadence reminded me that hope is always right there, even in tragedy.  For the first time ever, Cadence "read" me a story.  He has always loved books, and we can read the same one a million times without him getting bored, but he's not one to use a lot of imaginative play.  He likes to see how things work - but he doesn't really create things or come up with crazy stories or play.  And he's always been a quiet kid.  Obviously his speech  has been a huge part of that, but I think it's also just who he is.  He's okay in the quiet moments and doesn't fill the air with idle chatter.

But last night after we read his story, he decided he would read to me.  My heart filled while listening to him tell me his story and I was extra aware how precious this "first" was.  We went a very long time with little to no back and forth communication.  I remember how huge it was when he could finally communicate yes and no with us.  I could finally ask questions and he could lead me in the right direction.  And there was a lot of time when I just didn't know how well he would be able to communicate with the rest of the world.  But just when I needed it most, my boy brought me right back where I needed to be.  Not focused on the evil in the world and all that I cannot understand or control, but right in the wonder and joy of my own kids.  Enjoying his story and present in the moment with him.  Soaking up every word of it.

Knowledge is....

Knowledge is power.  This is something I definitely believe.  Knowledge has the power to change your entire life.  This can be in a good way, or in a bad way.

This whole "what's going on with Cadence" thing has been a source of confusion and frustration for me for a long time.  Yes he was big when he was born, but not record setting and he came by it honestly.  And jaundice is common in newborns.  He didn't move super early, but he had a lot to move.  

It was always, "Gosh, he's not doing this"  or "He's doing this differently"  But I could never tell for sure if this thing, this symptom or characteristic, was something all on it's own, and he happened to have a few of them, or were they all related.

This was something I thought a lot about.  It didn't keep me up at night, but it never went away.   It wasn't until we realized he was having seizures did it really kick in that this could be "something".  I didn't know what, but we had to look.

So began the long list of doctors appointments and possible diagnoses.  We've heard that he's everything from a late bloomer to autistic.  We certainly got some clarification on some parts of his diagnosis (he does have low muscle tone, he does have seizures) but no all encompassing diagnosis, and some things we heard just were not accurate (he is not autistic).  

We've had a lot of tests done, seen a lot of doctors, and been told a lot of things he doesn't have, but nobody could tell us what he had, or even if he had "something".  So there came a time when I accepted, on a very conscious level, that Cadence was just Cadence.  Quirky, clutzy, goofy, and all together perfect in his own special way.  And maybe 20 years from now I'd hear of some new discovery and finally figure out that that was what Cadence had.  It got to the point where I was really struggling with why I even wanted to find an answer.  So I let it go. 

After Connor's diagnosis, I did some research on some of the syndromes that can be associated with his condition.  I knew that if cranio is related to a syndrome, there can be more issues.  I didn't really suspect he had any kind of syndrome, but had to look it up just to be sure.  That is when I came upon Sotos Syndrome.  I think it came up just because it also involves a big head, but as I read the description I couldn't believe how many of the characteristics of it sounded just like Cadence.  It involves overgrowth in childhood, low muscle tone, speech and development delays, poor coordination, seizures, and the list goes on and on.  I really could not believe it all.  I may have finally answered all of my questions.  You would think I would be ecstatic.  And a part of me was.  But a part of me was terrified.

I had already begun to question why I even was looking for something.  I started to feel like I was trying to find a label for him, and something about that just felt weird and not right.  But I was also filled with so many burning questions, that I couldn't let it go.  But when there was a possible name for it, it suddenly seemed so scary and like I wish I hadn't even asked the question.  

I'm feeling a bit like this tonight.  I found a group for families with sotos - something that was hard to do with a kid with no real diagnosis.  It was great for a minute - finally somewhere where I could maybe find people who were going through the same thing as us.  Somewhere I can find other moms who have the same questions and challenges that I have.  But then it really broke my heart.  This would mean that Cadence really does have something.  He's not just quirky or uncoordinated, he has something.  It has a name, it won't go away, it could cause more problems.  Why did I even ask.

I know this will pass.  Having a name for some condition doesn't change who Cadence is.  He's still the goofiest, sweetest boy I know.  Knowledge really is power and having this information, if it turns out this is what is going on, really will benefit us in the end.  But right now, I just wish I were a little less knowledgable.

Back in School

Tonight I feel like I'm back in school again.  

I began getting My Chesters' stories out of me because of Connor's surgery.  This was such a sudden, and super serious, change in our trajectory, that I couldn't work through it in all my normal coping ways.  But my head swirling began years ago with my 1st born, Cadence.  

I have been obsessed with that boy since before he was born.  And part of the obsession has been that he has always had something that my brain could not figure out, or had to figure out.  Having earned my biology degree from one of my favorite places on earth - Virginia Tech - my brain is wired to try to fix/figure out all things biology related.  So when it became evident relatively early in Cadence's life that his brain was also wired differently- I began the search to try to figure him out.  It has been a very long, journey that has had it's own heartache, but it's also had so much love and has taught me so much.   

So our latest event was a marathon day of appointment, beginning with another trip to genetics.  We went to genetics at the end of August (and originally maybe 3 years ago?).  Unfortunately, the doctor we saw then I could tell pretty early on was not really listening to me and didn't trust my mama instincts.  I have grown to recognize those.  I still thought we'd get testing (because we did the first time), but had to be referred to another doctor/professor who we finally saw yesterday and just brought Connor for good measure. 

Yesterday we also had an appointment that was rescheduled from last week at Kluge with a developmental pediatrician.  It was a follow up with a doc we saw last year - one that I really didn't want to see again.  But I was able to get an appointment with one we had seen a few years ago, who really got Cadence as soon as she saw him then, and totally picked right up yesterday.  I love it when a doc can recognize something in Cadence that I had not yet noticed.  That's such a good measure of how much they get him!  We have been so lucky to have a few of those.

So after the latest doctors appointments, there is testing underway for a genetic syndrome that I think may finally be the answer to the questions that I've always had.  It's a weird feeling that I can't quite process right now.  Well, actually I can in the way that I've been doing all this time - I'm back in school, researching.  It is a familiar feeling that I really love.  And keeps my mind occupied with no room for the feelings that I don't love so much. 

 And I only have 7-10 weeks to wait to find out whether or not we can prove my hypothesis.

7 weeks

So I started playing a little game with myself tonight.  This time 7 weeks ago.....  7 weeks ago.  I can hardly believe it has been that long.  The month between Connor's diagnosis and surgery seemed 3 times longer than these past 7 weeks have been.  Needless to say a lot has happened!


We'll start with a little fire department carnival in the middle of June.  After seeing the ferris wheel on one of his Jeep rides with his daddy, Cadence had to go.  And we had a blast!!  It's the first time that I felt like I could take the leap and let Cadence ride more than just the little kiddie rides that go around in a circle.  I'm SO glad I did!  We got to ride all the rides together and right there in front of me my 1st born seemed to grow up.  And he loved every second of it.  It was also one of the first times we'd had Connor out anywhere after surgery.   It was in the evening which was perfect.  We didn't have to worry as much about the heat and I didn't have to worry about keeping a hat on him or  about the sun and he could just enjoy himself.   We all had a blast!

He had this look on his face all night!

And so did they

We then had the "derecho" at the end of June.  I'm not really sure what a "derecho" is - I've heard people say that's what it was - but all I know is that on Friday night, June 29th, we had the craziest storm.   Crazy thunder and lightning.  Scary wind that whipped in every direction.  The result was several days without power (thankfully only 3 nights for us - many others went for 10+nights..).  Oh yeah - and it was only a record breakingly hot week.  Thankfully Glenn's sister and brother- in-law live nearby and they did not lose power and graciously allowed our family to invade their space!  Cadence thought it was the best!!  He is still talking about his walks with Aunt Barbara and Uncle Dave and the fire hydrants he counted.


Glenn also started a new job at UVA (woot woot!!).  Unfortunately his first day was the Monday we were without power, but it's been good nonetheless.  


Connor continues to be a rock star cranio baby!  It is hard to imagine that my gorgeous 7 month old  was swollen and in a hospital bed this time 7 weeks ago.  While we were camping out at Aunt Barbara's, Connor tried his best to figure out how to crawl.  We were totally expecting him to take off.  But I guess he wanted to do it at home.   And now the boy cannot be stopped!  He's definitely a totally different boy than Cadence - and Cadence totally spoiled  us!  When Cadence was 7 months he was totally happy to sit.  He'd sit forever just playing with a toy.  And if he dropped it he'd find something else right next to him to sit and play with.  He was completely content just chilling out.  Connor is the opposite!  This boy is on the move!  He's been crawling a week and we are already having to put up gates.  And just for good measure he pulled himself up and was standing at Cadence's chair tonight.  


What skull surgery??

It almost makes me sad that so much time has passed - it all goes by so fast.  I am in no hurry for them to grow up  and wish I could keep both of my boys little forever.   I absolutely wish I had more time to prepare for a mobile baby!  But now that Connor can get to Cadence when he's playing with his trucks (which of course is all he wants now) they are starting to play more.  And I get to watch the beginning of what I hope is a super loving, life long friendship.

Recovery

The hard part about facing such a big surgery is that that is all you focus on - the surgery.  That day, that event.  I never spent a whole lot of time thinking about what would come after it.  I knew it would take time to recover, had heard that his eyes would swell, but it was not something I thought a whole lot about.  I was so worried about the surgery itself I just didn't allow too much time to think about what happens on that other side.

I think, for me, my anxiety of surgery had at least in part to do with my need to control.  (Yes - I have now admitted this publicly).  Surgery was completely out of my hands.  So when we got back to Connor, I still wasn't in control, but I could play a part in what was going on and in helping him to feel better.  I'd thankfully had some great cranio moms who gave me the lowdown on the not so pretty side of recovery, so I wasn't entirely unprepared that there would be some hard moments, but once I was back with my baby I at least knew what was going on with him and could participate.


The recovery, especially the first couple of days, is no walk in the park.  Connor was still pretty drugged up and out of it when we first saw him and the swelling had not yet begun.  He opened his eyes several times, but when they were open it was not like he was there.  He was getting IV pain relief, which kicked in pretty quickly, but he also seemed to burn through it pretty quickly.  He'd wake up screaming and flailing his arms.  He had a brace on his left arm where he had an IV and arterial line that he would hit himself and anyone consoling him with.   And I couldn't pick him up and rock him - all I could do was lay my face on his chest and talk to him and try to calm him down.   


The first 24 hours were pretty rough.  He'd thrown up after surgery so we had to get to a point where he could eat so we could give him some medicine that would last longer than an hour.  And he was also running a fever.  It was a cycle of him screaming and flailing, then he'd get some medicine and then he'd sleep a little bit.   We had an awesome nurse who was very reassuring that all that was happening was normal, but it was so hard to watch - his heart rate would get up over 200, his blood pressure would go up and his alarms would all sound off.  The nurse said that kids generally fall into two categories - those that kind of go with it and are easily soothed and relaxed by the medicine and those that fight a little more and tend to need more medicine.  Connor, of course, fell into the fighter category.  


That evening the neurosurgeons came by to reaffirm that everything went well and that he thought he would do well.  Connor had one of his fits while he was there and the doc prepared us that this was the honeymoon phase of recovery - that it would get worse before it got better.   Perfect.  Around 11pm we went to get a CT scan to make sure all looked well.  Moving was apparently not what Connor wanted, because right before we left he threw up everywhere.  Projectile, soak through blankets and towels vomit.  Thankfully that was the last time he got sick.  


With the addition of food, and oxycodone, Connor was able to rest a little better, but we still had a hard time staying ahead of his pain.  He would still wake up screaming and still required fentynal to calm him down.   Exhaustion set in and I finally got more than a 10 minute cat nap around 3am.  Only to have a resident come in at 5am to check on us.  The room was dark, Connor and I were both sleeping - and he walked in to very loudly ask how everything was going.  It startled us both and Connor of course started screaming.  Had I not been so dazed I think I would have hit him.   

FRIDAY
As the morning went on I started to think more and more that Connor wasn't just in pain, he was pretty agitated.  He'd been in the same position on his back in bed forever and seemed to really be annoyed by his brace.  I wanted so badly to just cuddle him!  He needed plasma in the morning, but by early afternoon I was finally able to hold him.  

It felt like the first time I held him after he was born.  He was right where he was supposed to be.  A plush throne was made of pillows and blankets so that I could comfortably nurse him, but he had no interest in it and it just broke my heart.  I thought for sure nursing would be the cure all, but he had no interest and still seemed irritated.  

That evening we were moved from the PICU to the regular pediatric floor and it felt like we'd moved to a different planet.  The PICU is a loud, bright place.  People are constantly coming and going and there is a lot of activity.  But the doors opened to the peds floor and it was so quiet.  We moved to our own room where we could close the door, I had a bathroom and Connor was free - all his lines and monitors were gone with the exception of his central line in his neck.  I could feel us both relax.

That was probably our best night in the hospital.  Connor was much more peaceful - I think a lot of that had to do with getting the brace off his arm and being held again.  I could pick him up and cuddle him and he relaxed enough to nurse.  He did have to get plasma again that night - which takes a couple of hours and sadly didn't start until after 11.  I just held him  in the crappy blue recliner and we both slept through most of it.  The only scary part was that when it was done the nurse came in to disconnect him (he was connected to the line in his neck) and she got caught up in the tubing and pulled at his line.  It totally freaked me out - which of course freaked Connor out.  But she nonchalantly informed me that it would take a lot to pull it out because it was stitched in.  After that was done we both were able to relax and sleep - it was fabulous!  And then at 5am loud mouth resident came back and woke us up again.  I could not believe it!  And again Connor was crying.


SATURDAY
We were awake early, but I don't think either of us really wanted to get up.  So we got comfy in the chair and Connor nursed and we both dozed off.  When we woke up a little while later I was so excited to see that both Connor's eyes were open!  His right eye had swollen shut by late Thursday.  His left eye got pretty swollen, but he always had a little slit - he'd have to lean his head back to look through that little slit to see people, but it wasn't completely gone. I was excited to see the right eye, but it soon swelled back shut.  But Connor also seemed a little more like himself.  Other than some flailing when he was angry, he hadn't been moving much and was pretty stiff feeling.  But Saturday morning he actually took some interest in his toys and starting batting at them a little.


The plastic surgeons came by in the morning to remove his dressing.  I excitedly told them that I'd seen both his eyes that morning, but they prepared me that day 2 was when swelling was usually the worst.  I was preparing that this was the day that the left eye would go too.


Saturday was also the day I would see his head for the first time.  They cut away the dressing and removed the gauze and I got the first glimpse of Connor's new forehead.  I was not at all prepared for how dramatically different it was.  I knew they were removing the fused suture on top and that they were going to do some work to his forehead, but it looked almost flat and was very noticeably not the same.  And then there was the very large incision across the top of his head.  It completely broke my heart.   


After the surgeons left it was the nurses turn to change the dressing on his central line.   I knew I didn't want to be in there when they pulled the tape off his neck for that so I took the opportunity to get away for a minute.  I walked down the hall and just bawled.  I was exhausted and was so sad that the beautiful face that I had been staring at for 6 months was gone.  I had gone into this knowing that he would look different, but it still somehow surprised me and really just made me sad.  


Now that the central line was the only thing left in Connor, it was the new focus of his agitation.  He seemed to notice it for the first time when his nurse pulled it when getting plasma and then would pull at it any chance he got.  So when we could no longer tape it to his dinosaur dressing, we had to wrap it up against his head with gauze.  


After the shock of the new head shape, and then getting his lines out of his hands, Saturday ended up being the turning point for Connor.  Instead of being the day that his swelling was the worst, it was the day that it all started to go away.  By the end of the day Connor was playing with his toys and both of his eyes were open - wide!  The difference was amazing!  There was actually talk of him going home on Sunday, which actually really scared me, but because he needed to get platelets Saturday night, that was not going to be possible.

SUNDAY
Saturday night was restful - we never got more than a couple hours of sleep in a row, but once Connor got medicine and/or nursed, he was able to get back to sleep pretty easily.  I was prepared for our usual wake up call, but was pleasantly surprised when our morning resident didn't show up until after 6, we were already awake and playing, and he came in whispering!  On Saturday I heard the resident coming back around 10am with Dr. Jane once Connor had dozed off for a nap.  I did not want him waking him up again, so I caught them in the hall and tried to explain as nicely as I could that Connor needed to sleep, was a light sleeper, and that he'd woken us up the past two mornings and startled him and left me with a crying baby.  So he was welcome to come in, but I would really appreciate it if he would try not to wake him up and whisper.  I was very pleased that he had a different approach on Sunday morning.


Sunday was a pretty uneventful day.  Connor would have fits when his medicine would wear off - and he'd pull at his hat and the gauze holding his lines away, but in between he was more and more like himself.  Everyone who saw him was so impressed with how well he looked and how much of his swelling had gone away.  But I was getting concerned about what he would do to his incision once his hat was removed.  When he was in pain he really pulled at the hat - would pull it over his face with both hand and really just dug at it, so I was afraid once it wasn't there he'd dig at his incision.  

MONDAY
Monday, May 28th, 2012 - Memorial Day and Glenn and I's 7th anniversary.  Because Connor's blood work looked good through Saturday, he just had to have his last draw early Monday and if all looked good we would get to go home.  I was scared and excited.  He'd had a rough night Sunday night.  He didn't stay settled for long and when he was awake he was very upset.  I even had them give him oxycodone for the first time since Friday.   I really think he was just annoyed by being in the hospital, having the hat and lines still on him, and not being able to just be free.  But he was so agitated I couldn't swear he wasn't in pain, so I wanted to make sure if he was it was taken care of.


Because it was a holiday everything was a little delayed and it was after 8 before we saw the first resident.   We got the good news that his blood work looked great, he'd been stable for over 24 hours so we really were going to get to go home.  The only hurdle we had left was to have the central lines removed.  I had the option to help hold him for that, but I decided to bow out of this one too.  Unfortunately I could not get far enough away to drown out his screams.  I knew in my head that he would be angry at being restrained and that the tape would be the worst of it, but hearing him screaming all I could do was cry.  


Once they were through we just had to wait for our discharge paperwork and Glenn and Cadence to arrive to take us home.  I took off the little stocking cap so that I could get more comfortable with his incision and ask any questions I had about it then.  I had imagined Connor digging at his incision the way he had the hat and ripping out his stitches, but was  happy to see that it would be very difficult for him to do that.  And he paid no attention to it at all.  I think he really just wanted everything off of him.


The new shape of his head, and seeing him with no hair, was still hard.  When I nursed him for the first time without anything on his head, it struck me again how different the shape was.  But he was doing so amazingly.  He was just a few days removed from a huge surgery, he was laughing and playing with his toys and was essentially back to himself.   

It has now been a week since we came home.  I am still just amazed at how well Connor is doing.  He has had nothing but ibuprofen for pain since Tuesday, and has had nothing at all since Saturday.  He had a hard time at first rolling over to his stomach, so his sleep was a little off to start with, but he is back to his rollie pollie self.   He is jumping and rocking in his jumper, screeching at his brother, and has now almost mastered sitting up by himself.  I am in awe of his strength and so grateful for all the thoughts, prayers and kind words during all of this.  Glenn and I have been blessed with 2 amazing boys and I am so thankful that we are all so loved!!

PS - this post has been started and stopped many, many times.  I really wanted to get in as much info about our hospital stay as I could for my own record and really did not intend on it being so long.  So if you read all of this thank you so much!  You deserve a gold star!!