Heading Home

We got the ok to head home!  It's going to be interesting, because "home" for Peyton is not the home she left on Sunday night.  Come to think of it, that goes for me as well!  Our move has been happening this week.  Well, not so much from Monday through Thursday, but Ron and his mom, who is visiting for a few days, have been hard at work today getting Peyton's room all set up at the new place.  As she cannot stay by herself, I am moving in with her today.  The rest of the family will follow tomorrow when the rest of the furniture makes it over.

So, in addition to sharing good news, I just wanted to remind you that we now have a new address.  If you need our address, please email me at sjfontenot72@gmail.com so I can send it to you.  We've lived in the same apartment complex for the past 4 years - but in 3 different apartments.  We've been fortunate to have a postal worker who knows we lived there despite our many apartment changes, and has simply put incorrectly addressed mail into our current mailbox (we still get mail addressed to our first place there).  This time around, that's not going to happen.  I did have our mail forwarded, but that only lasts so long.  Be sure to let me know if you need my address.  I did email several people the new information a week or so ago, but I know I didn't get everyone.

Thanks!!

A Quick Update

Peyton is still at the hospital tonight.  She pretty much slept all day, which is odd.  I don't know if it's just taking that long for that last dose of the neurontin to get out of her system or if something else is going on.  The new neurontin dose was given tonight, so it will be interesting to see how that affects her.

There's really not a whole lot of news today.  Still at the hospital.  We are hoping to be home tomorrow.  By home, I mean the new place.  Ron is going to be pretty busy getting Peyton's room set up tomorrow.  It'll be a busy day in general as we try to finish off this move.  We've lost several days in our process with this hospitalization, so we'll have to get right back into it as soon as Peyton's out of here.

I will update you to let you know if we're home tomorrow or if we're still here!

Another Update

So, we were hoping to be getting out of here today.  However, it looks like Peyton will be spending not one, but two more nights here.  As there is nothing I can personally do about this, I am just trusting in God with His plan and timing.  We're in the midst of a move right now.  And by "we", I now mean "Ron".  The plan had been that I would unload stuff and take over smaller items during the days this week and he'd bring over loads in the evening.  All of that came to a standstill with this hospitalization.

Please know obviously Peyton's the first priority, but we do have to get moved!!

So, today Peyton pretty much slept all day long.  With the exception of about 15 minutes, up until about 5pm, she slept.  This is so not normal for her.  The one new thing that had changed was the addition of a new pain killer - neurontin - in place of oxycodone.  It's a medication that you have to start out at a lower dose and work your way up to the therapeutic dose.  She started at the normal starting dose.  The doctors talked to neurology and to pharmacy about this and they think that this starting dose must have been too much for Peyton.  They cut her off and will let her get through the night tonight without it.  She can have oxycodone for pain though.  Tomorrow, with a clean slate, they will try a lower dose of neurontin, but they will do it in the evening, which means another night here.

I did speak with the geneticist in Boston today.  He spoke with her attending here prior to that.  He said that this low copper - or, in her case, an almost total lack of copper can be related to lots of different connective tissue disorders as well as mitochondrial dysfunction.  With some disorders it is possible for the optic, heart, and/or brain vessels to become twisted.  His suggestion is to do an MRI/MRA.  You know what an MRI is, but if you're like me, then you just googled MRA - it's Magnetic Resonance Angiogram.  Basically a cardiac MRI.  This will have to be done under sedation.  This will be something that happens after Peyton's out of the hospital.

Also, he would like her to have an ultrasound of her bladder.  Apparently with these disorders, the bladder can enlarge and form pouches called diverticula.  Urine will collect in these pouches.  He wants to make sure she doesn't have this going on.  She recently had an abdominal ultrasound (last week), so the doctors here are going to see if they have enough information to go on from that rather than put her through another test.

The geneticist in Boston has consulted with another specialist up there regarding her low copper.  At some point she will need to be treated for this.  Unfortunately, it isn't as simple as taking a supplement like you would an iron supplement.  Based on their discussion, what she would need would be a specially prepared copper supplement.  He does want the other investigative studies done first though.  This means getting her through the MRI/MRA, a possible ultrasound, and getting results back on genetics testing that is already in progress.  Not the German study...he has other testing in progress right now.  Once we get through that, Peyton will need to be seen in clinic by this other specialist - at Children's Hospital Boston.  Yes, this will mean another trip up there.  He is thinking early spring 2013.  Perhaps we can coordinate it with Moira's spring break.  

At any rate, they will have all the results from all this testing being done.  I think from that they will be able to figure out how to formulate this supplement.  I don't know how it is administered - through her g-tube or if it's an injection??  I don't know.  I just know that we have another big trip ahead of us and treatment sounds expensive!!!  We will see how this all plays out.  I'm so excited to have so much going on in the genetics arena right now.  We don't have an answer in terms of a diagnosis, but we now know about this copper/ceruloplasmin issue.  If it weren't for our trip to Boston, we might never have known this.  I feel like we've backed out of that dead end street and are at least heading in a new direction now.

I FORGOT:

Peyton has been having more focal seizures since she's been in the hospital.  These are little "staring" seizures.  They are non-convulsive and they last only a few seconds.  Since Monday she's been having these several times a day and they've been lasting longer - closer to a minute.  It's been noticed by several people.  Her seizure meds were increased on Monday.  Again, non-convulsive - she hasn't had one of the convulsive types in a few years.

I'll definitely be keeping you updated on all that is going on.  Hopefully Peyton gets home Friday!

Update

Peyton had a decent night's sleep last night.  She is still a little sleepy this morning.  They kept her an additional night in the hospital last night because she wasn't quite to her base line.  Sleepiness was one of those things that wasn't quite "normal".  She's also been pretty irritable.  She is pretty irritable at the moment, but she just had her foley catheter removed.  I would be irritable too!

All the tests they ran look good.  It doesn't look like there's any kind of infection going on, so that's a good thing.  We'll just keep an eye on how she's behaving today.  If she isn't quite herself, they may want to get neurology to come and take a look at her.  Hopefully, though, we will go home today.

I've mentioned before about some genetics testing being done.  Since we went to Boston, the geneticist up there has been doing a lot of research on Peyton and he had an idea about a possible disorder that involved cataracts, hearing loss and neurodegeneration - all things that Peyton has dealt with.  He had coordinated with our geneticist herea t MUSC to get some testing done.  Some tests won't have results in for a while, but a couple were pretty quick because they were just testing for a couple different levels in the blood.  They were testing copper and ceruloplasmin levels.  It turned out that hers were significantly low.  When I got the results, I emailed them to the doctor in Boston.  He was very intrigued by that.  There are disorders where the copper level is deficient.  However, the ceruloplasmin is usually high if that's the case.  Both were very low.

The geneticist here at MUSC wasn't sure what to make of this at all, but the one in Boston called me about the results.  He said that he'd done research and found there to be a study going on in Germany involving the cataracts, hearing loss, neurodegeneration and the low copper and low ceruloplasmin levels.  The down side is that there is nowhere in the US to test for this.  First off, it was decided that those two levels should be retested.  Those results came in late last night.  They were the same as the first set.  They just wanted to make sure it wasn't a lab error or some other fluke thing.  In addition to testing these levels, they wanted a 24 hour urine sample to check copper there.  Since Peyton was admitted to the hospital, I got on that right away and made sure that they consulted with genetics here to make sure we got that taken care of while she was in-patient.  I cannot even fathom how we would do a 24 hour urine sample at home.  She had to be catheterized for that.  I don't know how long the results will take for that, but it finished around 4pm yesterday and was sent to the lab.

Genetics in Boston is convinced that the results are truly showing her to have these low levels.  He spoke with his colleagues up there and, since copper does play a role in the biological system, and the low levels may account for some of her clinical findings, he thinks further investigation is warranted.  He asked me to find out of it would be possible for him to speak to Peyton's attending (and I) sometime today to discuss this.  The attending here agreed, so we should be speaking to him early this afternoon.  I suppose if he is looking at having further testing done, it is far easier while she is still in the hospital than for us to have to figure out a way to get things done once she's home.  I do not know what kind of testing he is talking about - whether it's just bloodwork or something else.

As for this German research going on, the doctor mentioned to me that this would be the only route to go for testing for this specific disorder.  He is going to look into seeing if they will agree to test her.  That would mean the doctor in Boston would send some of her blood over there.  He already has that.  I don't know what the status of that is.

We won't have a diagnosis of any sort right now and this is just a lead, but it seems like a good one.  We'll see what happens there!  The doctor in Boston does want to speak with her attending here in the hospital today because he wants to do some further testing.  I don't know what all that involves yet.

No news yet on when Peyton will go home.

Not Much News

Just a quick update on Peyton.  She is still in the hospital.  She is still doing alright.  While she is in, she is having a 24 hour urine test which is something that the geneticist here wanted done for some genetics testing.  It's not related to why she came into the hospital, but this is clearly not something we could do at home, so I thought I would ask about getting that taken care of as long as we are here.  That alone will keep us here til late this afternoon.  However, I'm not sure if she'll go home today or not.

Peyton has been pretty sleepy since she's been in but she's also been pretty irritable during the times when she's awake.  She really isn't ever like this - not even in the hospital.  Now, with the hip pain she's displayed extreme irritability, but she's getting her meds for that.  I believe that this is something different.

We still don't know if what happened was a respiratory or neurological problem.  I could see it being either.

There really isn't a whole lot of information.  Sorry!  We're still here - just hanging out in the hospital, unable to be working on our move until we leave!  Crazy.

911 and A Trip to the ER

Last night Peyton was not having anything to do with falling asleep. She rolled around in her crib for a while. She was laying quietly shortly before 11pm when I heard her then make weird noise. I first thought she needed suctioned. I looked at her and something was wrong. I took a moment to watch her. I wasn't sure if she was about to have a seizure. It would be her first in just under 3 years if it was. She had her head tilted back. Her chest was sucking in like I have never seen before. She was moving strangely as this was happening. She was neither inhaling nor exhaling. She was not breathing. Her oxygen was I. The 70% area but within seconds it hit 27%. Ron was not home and I was with her alone. I began rubbing on her chest to stimulate her as her face turned grey and lips blue. Her head rolled limply to the side. I will be perfectly honest - I thought she was gone at one point. I tried to call Ron but hung up and called 911. It is hard to explain what is going on when you are in tears and can hardly breathe yourself. I know they were just wanting me to focus but I wanted to slap the person on the phone a couple times. I just needed her to listen to me. She probably needed something else from me. Peyton started to come around. I needed Ron. I knew he was on his way home, but with Moira in the house too, I needed him ASAP. My laptop was up and while explaining to 911 how to get to an apartment that everyone has problems finding, I put out a message on facebook for someone to please call Ron because I was calling 911. My sincere gratitude to whoever reached him. My sincere apologies for possibly freaking out a couple hundred facebook friends including family who otherwise would not have been finding out about Peyton this way! 

She was stable when EMS arrived. Ron made it home moments before so I told him to stay home so we didn't have to wake up Moira and drag her to the ER too. I walked out with the SEVEN EMS and firefighters who responded. She remained stable on the way to the hospital and still is. She was admitted though.

I have absolutely no idea what happened to Peyton last night. I don't know if we ever will. But she is stable and is finally getting some sleep after being up all night.

Did I mention we are in the middle of moving right now?? Last time we moved, Peyton wound up in the hospital though it was not nearly so dramatic. 

I am not sure how long she will be in. I was meaning to write a post on how things are going on the genetics front. I will save that for another day, but I am trying to coordinate a couple lab tests that a couple docs as long as we are here. One is a 24 hour urine test. The only way that can be done is if she is catheterized and I can't imagine doing that at home!

So...after a very scary event, Peyton seems fine but we just don't know what happened. Prayers are much appreciated. I will update later.