Exceptional

Peyton passed away nine and a half months ago, but Ron and I continue to seek answers to the mystery that was (is) Peyton.  I shared in a previous post my thoughts on what life is like nine months since she passed.  You can read that HERE.  Today, however, I'm coming back around to a sort of medical update on Peyton.  Odd, isn't it?  She's gone these many months and yet there's some news to share.

As you may or may not remember, we had taken Peyton up to Children's Hospital Boston in August 2012.  This was for a third round of opinions on her condition which had, at that point, been thoroughly gone over by both Texas Children's Hospital in Houston (from her birth in May 2006 until we moved in August 2008) and Medical University of South Carolina Children's Hospital (MUSC; from August 2008 until her death in May 2013).  There was really no shortage of experts working on her case, but some Orthopaedic issues prompted a trip to Boston where Peyton wound up having seven different appointments with a variety of specialists within a five day period (Pulmonary, Orthopaedics, Neurology, and Genetics to name a few).  While Ortho was the driving force behind this trip to Boston, the Genetics consult wound up playing the biggest role for us.

We never did have a diagnosis for Peyton's overall condition.  What we did know was that it had to have been some sort of genetic condition and it had to have been exceptionally rare.  In fact, after that Genetics consult in August 2012, there was one potential candidate for a diagnosis which did not pan out.  There is no name for the condition as the information uncovered was all within a research study being done in Germany.  In that study, there were fewer than 10 (perhaps 5 or 6) known cases of this particular condition which involves a copper deficiency.  There are named copper disorders (i.e. Menke's Disease and Wilson's Disease).  Don't bother Googling them because those are not what she had, nor are they the disorder being researched in this particular study.  Her medical issues were so numerous, that I will simply point you to the "Health Conditions" tab on this blog.  You can just click HERE to go there.

In the last few months of her life, Peyton's health had begun deteriorating.  She had worsening respiratory issues.  In November 2012, she stopped breathing at home when Ron was out.  Fortunately he made it home just as the dozen or so EMS people arrived to take her in an ambulance.  In February 2013, Peyton stopped breathing for several seconds (which seemed like an eternity) in the hospital just as the Pediatrician was leaving after examining her.  She was still in the doorway and her nurse was standing right there, so she had immediate attention.  A code was called and it introduced me to a whole new level of care for Peyton.  Just a week later, she was back in the ER because she had swelling of unknown origin in her right leg.  She was almost discharged from the ER but I said no.  I wasn't taking her home without knowing for sure.  It's a good thing, because it turned out to be a fracture, which turned into a whole other experience which you can find HERE.  You could Google brittle bone disease, but that is not what she had.  She was breaking bones and had fractures we didn't even know about which were already healing.  It likely stemmed from her severely low copper levels (there are two different levels which were examined several times and, essentially, the amounts in her system were almost non-existent), but we never truly understood why this was happening.

February 11, 2013

From February until March 26 when Peyton wound up in the ER again with respiratory issues (and another broken bone), she would never be the same.  Smiles were seldom seen.  She was miserable.  We knew her health was declining.  We had no idea that the admission to MUSC Children's Hospital would last 40 days and would be her last.  We had no idea on March 26th that we wouldn't be bringing her home.  I can tell you that, as her mother, before the first 10 days in the hospital passed, I feel like God was preparing my heart for what was to happen.  I feel like I knew deep within my soul that we weren't bringing her home.

Her team of many, many doctors worked seemingly tirelessly to get to the root of what was going on.  There were respiratory issues, orthopaedic issues, gastrointestinal issues, and so much more developing over those 40 days.  They enlisted the help of the Geneticist in Boston.  Peyton's case was exceptional.  I knew as her mother that we weren't finding answers.  I knew as her mother that everyone...I repeat...everyone was doing everything in their power to make things better.  I knew we were going in circles.  I knew things were getting worse.  I knew that the outcome was not going to be favorable.

Peyton's life was an education to so many.  She was for me, that is for sure!  She came with a learning curve that we were not expecting.  To answer a question we've received many times over, no, we did not know in advance that Peyton was going to have any issues when she was born.  Would it have made a difference if we had?  Absolutely not.  I did not feel equipped, but God equipped us to face all of Peyton's issues head on.  Whether we knew it or not at the time, God was our strength when we had none.  He still is.  Peyton's best years were between her 2nd and 3rd years of life.  She never walked, talked, crawled, sat up on her own.  Yet for someone who, to the outside world, could do so little, she is a child who did so much.  She taught me more than I could have possibly have taught her.  I also believe she taught so many others - people who knew her, met her once or twice, who were on her medical team, and even people who never met her at all except through this blog.

Peyton continues to be an education for the medical world.  Prior to Peyton's passing, aside from making those horrendously difficult "DNR" decisions, Ron and I also opted to have several samples taken from Peyton post-mortem and those samples shipped to The Manton Center for Orphan Disease Research in Boston.  There is a specific research protocol for Peyton's case and, in fact, a researcher was hired there, part of whose job is to work on Peyton's case.  I have checked in with the Geneticist we'd seen in August 2012 a few times since Peyton's passing to see if anything has come up in their research.  Here's where I get to the medical news that this post was meant to be about...

Remember that exceptionally rare disorder that they'd suspected Peyton might have, but turned out not to have?  Genetics in Boston has been working on Peyton's case with the National Institutes of Health (NIH) in Bethesda, MD.  Let me first say that Peyton still does not have a diagnosis.  That is important to know.  So, it's kind of like there's news...but there's really no news.  Still, it's important for us.  There is currently some suspicion that Peyton may have that exceptionally rare disorder after all.  May.  It is NOT diagnosed and we are still a long way off from a diagnosis.  There need to be two specific markers for this genetic mutation.  We know that Peyton had one, but not the other.  As the doctors continue to study her case, there is some suspicion that she may, in fact, have the second marker after all.  It is not confirmed and needs more research.

What we do know is that she did have one marker.  What we do know is that I (Sarah) carry one of the mutations.  What we do know is that Ron carries the other.  What we do know is that Moira carries the same mutation that I carry.  What we do not know is which of the two markers Peyton is common to (Sarah/Moira or Ron).  What we do not know is if Peyton did, in fact, have the second marker.  It's a hunch.  It means continued research.  It means we are at a point where they require skin biopsies from Ron and I.  We had previously sent in blood samples.  However, the research protocol does not allow for them to collect skin samples from us as we are not affected by this disorder.  Either the protocol needs to be re-written to allow for this, or they need to go to the ethics committee to establish that they can, in fact, do this to do further research.  It's not enough for us to just say, "Yeah, we agree.  Go ahead and take what you need."  Research isn't halted, by any means.  There is still research being done.  There are gene sequencing tests being run which aren't publicly available.  We're in a holding pattern waiting to see what comes from those tests.

I will also make it clear that there should be no concern over the health of Ron, myself, or Moira as a result of these findings.  Moira does not have any health concerns!  I would think that if Peyton had this exceptionally rare disorder, that the odds of Ron and I hooking up (with each of us being a carrier for one of the mutations) would be staggering.  If Ron and I were to be having more children, there would certainly be some concern.  That is not the case.  As for Moira, there is no...I repeat...no concern for her health.  Her child-bearing future is a very long way off, so if there is to be a concern for that, we will deal with it in years to come.

So, that is where we are.  We still have no answers but to me, this is the biggest "breakthrough" since Peyton's death.  And it's really not a "breakthrough".  It's new news, if you want to call it that, so I wanted to share.

Please be in prayer for us over the coming weeks as we approach the one year anniversary of her passing.  There have been some rough days already.  I look back a year and see where we were and it breaks my heart all over again.  As she was last hospitalized March 26, 2013, there are so many exceptionally painful moments recalled as we look back.  At the same time, there is so much to be thankful for.  There were so many moments where God's favor and blessing was on our family.  I cannot remember the pain without remembering how good He was to us through it all.

In closing, I'm adding what is one of my favorite pictures of Peyton.  It is the last picture of her where she looked truly happy.  This was taken February 20, 2013, in a brief period between two hospitalizations last February.  She did wear glasses, but these ones are mine.  I put them on her and she just loved it.  Loved her laughs and smiles during this moment.  Thought I'd share this picture once again.

Hospital Life...Day 15

Today is Day 15.

Peyton had a rough night.  As I was sleeping, the nurses were watching Peyton's vitals and noticed her oxygen kept dipping down.  It got down into the 60-70% range at one point.  They came and checked on her and I wound up waking up.  As I was waking, there were about 4 other people in the room - a couple nurses, a respiratory therapist and the resident on call.  They wound up having to increase her oxygen flow quite a bit.  The RT had to put a suction catheter down Peyton's nose to try to get anything out that might be blocking her airway.  It seems as if it was a very large mucus plug that was preventing her from getting enough oxygen.  Once that was cleared and my own heart began to beat again, her oxygen percentage came back to where it should be.  It was a bit of a scary moment to be sure.  Needless to say, I did not go back to sleep for a while afterwards even though her numbers were fine.

We had our family conference today.  Ron was able to come from work to attend as well.  There were a total of seven in the meeting, including ourselves.  The big issue that we know is that Peyton's body is not absorbing things properly.  She's losing protein, but we're not entirely sure where.  We know she has a copper deficiency.  We learned that over the summer after seeing the Geneticist in Boston.  Since she came into the hospital this time, we have discovered that she had no recordable levels of iron.  This wasn't the case a couple months ago.  Her albumin low.  So is her potassium.  And now zinc.  Fluid is spilling out into her tissue and it seems that no matter what is tried in an attempt to get the fluid off, nothing is truly working.

One idea is that there could be something wrong with her digestive system that is causing her to not absorb these things.  Her tube feds were switched already to a more broken down version of what she's been getting for quite some time.  It hasn't helped.  The doctors are finding themselves chasing all these things which are not being absorbed.  She has had two blood transfusions and an albumin infusion.  Peyton has required multiple boluses of iron by IV as well as potassium by IV.  Some of these treatments are not really a good thing to have to keep on doing.

Her current form of nutrition, as you may have guessed from everything I've stated above as well as what I've been posting during this stay, is not something that is sustainable.  Essentially, she is malnourished even though she is technically getting all of her nutrition.  If it's not being absorbed, what is it doing?  The thought now is that we ought to consider a new {to her} form of nutrition called TPN.  TPN is a form of nutrition that is given through an IV line.  Since she has a port, it can go through there.  The idea is that all of the correct nutrition would be formulated for her and be administered over most of the day.  It contains sugar, carbs, protein, fats, electrolytes and trace elements.  The theory is that it will be absorbed in her system this way.  There would be no feeds going through her digestive system at all.  It would give her gut a rest and, if there is anything wrong in that area, perhaps give it time to heal.  If we get to a good point with that, then perhaps at some point they could do a scope and biopsy to see if they can figure out exactly what is going on in her gut.  Right now, this is not an option.

As this is really the only viable option we have, this new TPN nutrition is what we will try starting tomorrow {Wednesday, Day 16}.  I don't understand it well enough at all, so I don't understand how it is that fluid is spilling out into her tissues right now but TPN is supposed to stay in the system and not spill out.  I am not a doctor.  I have learned many things these past almost seven years, but this is not something I can claim to even remotely understand.  The thought is that we could, in the next several days, get to a point where we can get her home and she would have this nutrition continue at home because she has a port.  The gap between where we are now and where she needs to be to even consider going home is so enormous that I cannot fathom how that will happen, especially considering that I don't understand how putting this into her veins will stay in and be absorbed any better than the things that have been put in and did not stay in!  Any medical professionals who wish to weigh in...click on the email me button over there on the right sidebar.  Maybe it's all theoretical.  I don't know.  I know the options are not plentiful at this point.  I also feel like there is more going on than just  a digestive system issue.

Prior to the family conference, her Geneticist here at MUSC came into Peyton's room to do a skin biopsy.  The Geneticist in Boston had that on his list of things that he needed from us.  As long as she is here, they decided to get that taken care of.  She did very well through the procedure, as did I.  It was just done right here in her room.  I held her arm during the procedure.  I promised if I had to fall, it would be forward onto the bed.  I did just fine, thank you very much!

When I returned to Peyton's room after the family conference, she was having an ultrasound on her leg {the one in the splint}.  The swelling in her leg is down to her foot.  The doctor wanted to be sure Peyton doesn't have a DVT.  I haven't heard the results of the ultrasound yet.

Shortly after that was finished, a friend of mine visited.  She was so kind as to bring coffee and a couple gifts for the girls.  While she was there, another friend came up.  We all three know each other from worship choir at church.  It was so nice to see them.  I also had breakfast brought to me by another friend.  People have been so kind to us.  I really truly appreciate everyone's thoughtfulness.

If anyone is reading this who has been on Peyton's medical team in the past two weeks, you know Peyton's got a thing for animals.  It started with a pink hippo and then we added the quilt with the animals on it as well as the frog.  Her bed is fast resembling Noah's ark with the addition of a little bear, Peter Rabbit, a penguin, giraffe, and Nemo!

Holding Pattern

Yesterday was a relatively quiet day. Peyton did not have a good night's sleep at all on Thursday night. She woke up a little cranky, but if I'm being honest, I truly felt like she was a little better and that perhaps we were heading in the right direction.  

Peyton, having not had the best night's sleep, fell asleep around 1:30pm. I thought that was fine - she probably needed a nap after the night's sleep she had. She basically fell asleep by the time the respiratory therapist was finished with her. When the RT came back 3 or so hours later, Peyton was still asleep. Her treatments involve lifting her up, putting a vest on her, hooking her up to a machine that inflates the vest and it vibrates at a pretty good force in order to help loosen up any junk in her lungs. She also gets a number of nebulizer treatments as well as inhalers. She slept right through that, perhaps only opening her eyes briefly once or twice. The next RT came in around 9:00pm or so. Same scenario. She'd pretty much been asleep since 1:30pm. But I figured she'd wake up completely at this point because she was still on the nasal canula for oxygen and she needed to be put on her bipap mask. Her canula is taped to her cheeks. That would definitely wake her up! Well, it did...briefly. And by the time I had the mask on her and started up the machine, she was pretty well out of it again. 

Sometime after midnight, while she was on bipap, her oxygen levels dropped and kept dropping to about 80-81%. I watched for a moment and the nurse came in since she had seen that on the monitors. I hooked up supplemental oxygen to her bipap machine. We shouldn't normally have to do this because the bipap keeps her levels where they should be...most of the time. I got the oxygen going at 1 liter and the same exact thing happened again. I bumped it up to 2 liters of oxygen. She did well on that amount. In the meantime, her heart rate was up in the 140s and even up to around 150. Even when she was sound asleep, it was in the mid 120s. Mid 120s is usually her normal "awake" rate when she's well. Because of all of this, the nurse called the RT to come in and take a look and she paged the doctor. All of this was going on between 1 and 2 am this morning. I think the doctor was in sometime shortly after 2. Of course, she was sleeping soundly and seemingly peacefully. There wasn't an explanation. 

Speaking of no explanations.... We still have no idea what is going on with Peyton. This is our 12th day in the hospital and there's no answers. Let me reiterate that this is not the fault of the doctors or hospital. They are doing everything they can. Trust me on that! I find no fault in anything they've done. Earlier in the week, I decided to email Peyton's geneticist in Boston to let him know what was going on. Not because I'm doubting anyone's abilities here but because I know that we're all sitting here scratching our heads. I thought maybe, just maybe he might have some ideas. As it happens, he is at a conference on metabolic diseases. He thought it interesting given everything going on with Peyton right now. We exchanged a couple emails and he then sent me one which I passed on to Peyton's team here. It had instructions to call him while he's at this conference. The doctors rounded this morning and they have apparently been in touch with him during the night via email and phone. He has some specific tests that he would like run. Per his request, they checked her ammonia levels in her blood. It came back as 80, which is a bit high. He was looking for something over 100 I guess. That said, they were going to get in touch with him about that since it was close. They may do a 24 hour urine test (she'd have to be catheterized for that). I think he wants her to begin IV copper supplementation, but getting that is not as simple as getting iron supplements, so they have to talk to pharmacy here. There's also some sort of steroid that he was talking about putting her on. Since there are a variety of tests he also wants her to have, the doctors here want to find out if those all need to be done before starting this steroid. Starting the steroid isn't the problem...it may just need to wait until after these tests. The bigger issue is the copper. We'll see what happens. 

Right now we're just in a holding pattern. Peyton's definitely more alert but her heart rate is higher than normal and she's not back to her base line. She is a mystery and she is leaving everyone scratching their heads. Keep on praying for wisdom and guidance for her doctors. This is as frustrating for them as it is for us. I wrote a post on my blog in the wee hours of the morning this morning. It's a little about Peyton and about community. You can read that here:

http://fontenblog.blogspot.com/2012/10/peyton-iphones-and-building-community.html 

And also just a little side note, I wanted to share that I had written a blog post last month as a "Compassion Blogger" - that is, I will from time to time write blog posts to promote the efforts of Compassion International in sponsoring children around the world, lifting them out of poverty in Jesus' name. September was "Blog Month", which means they utilized Compassion bloggers to the extreme to push to get 3,108 children sponsored in the month of September. They got 3,159 sponsored!! I wrote posts during the month towards this effort. One of my posts was selected as a "Best of Blog Month" post and was featured on their blog. You can read that here:

http://blog.compassion.com/dear-god-on-compassion-and-gratefulness/ 

So, we're just hanging tight here and we'll wait to hear what all the doctors come up with. I'll keep you posted.

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.