A Very Long Overdue Update

I last updated Peyton's CaringBridge page on November 9th!  In this blog construction phase, I have actually gone ahead and put in the most recent couple updates from CaringBridge into this blog so you can easily refer back to those.  As I said in my welcome post, it's going to be a while before this blog is completely populated with the entire contents of that CaringBridge site.

I mentioned last month that things were fairly frustrating with Peyton.  No.  That's probably not the right word.  More like overwhelming and exhausting.  There's been so much happening.  I'm simply exhausted right now.

Peyton has not really returned back to her base line since she was sick and hospitalized back in September.  Forget the 17 day stay in October.  She's just never fully bounced back since September.  She's not lethargic like she was, but she doesn't have a whole lot of pep.  She is increasingly inactive.  Her hip pain is increasing in the past couple weeks.  It's heartbreaking to see her in so much pain and not be able to do something for it.  She's on meds, but they aren't working as well as they need to be.

Peyton has had the worst diaper rash for quite some time now.  It is an angry red at times.  Bleeding a bit at times.  Very painful to look at, so I can't imagine how it must feel to Peyton herself.  Just when we think it's resolving, it flares up again.  I think her skin is just so ultra sensitive to anything that touches her bottom that it's literally tearing her skin up.

At the end of November {the 26th}, Peyton had another "episode" at home where she decided that breathing wasn't absolutely necessary.  She began to turn grey/blue.  She came around fairly quickly {less than a minute}.  We took her to the ER where they did absolutely nothing but eventually send us home.

Peyton had a Cardiology appointment back on December 7th. I have to say that in Peyton's 6.5 year life, this was the very first appointment of hers that I have missed.  I was sick that morning, but she had to go.  Ron took her - all on his own!  Well, with the home nurse, but he did it!  Everything is pretty much status quo in that department.  She will go back in a couple months.  They will do another echocardiogram to see how the mitral regurgitation and heart murmur are doing.  So far, the idea of doing a heart cath is still just an idea.  No plans for one at this time.

A couple weeks ago, Peyton started to get junkier than usual. I was worried as we were heading into that particular weekend that she was about to have to go to the ER.  I contacted the Pulmonary clinic and we were able to start Peyton on a 2 week course of antibiotics to hopefully stave off any major illness.

I mentioned previously that we had a sudden unexpected issue in our home nursing situation.  That was closing in on a month and a half ago.  In a nutshell, we had to fire our home nurse who was doing 40 of the 56 hours a week that Peyton gets.  I won't go into details here but we went through a challenging phase after that.  Scrambling to get nursing coverage.  Not having enough hours to begin with.  That's another blog post in and of itself.  However, God provides.  I wrote about a little Christmas miracle we received over on my personal blog.  You can read that post HERE.  Long story short - we now have 84 hours a week of home nursing care!  I do, however, encourage you to read that post!

During Peyton's last hospital stay {those 17 days in October}, you may recall that I was in constant contact with her Geneticist up at Children's Hospital Boston.  He has been an amazing asset to Peyton's medical team.  He had multiple conversations with Peyton's physicians while she was in the hospital and he has also been in touch with Peyton's Neurologist here at MUSC lately.  In the past month, he has called me himself to discuss various updates.

While we've been going about our business here, the Dr. T. in Boston has been discussing the case with other doctors up there as well as her Neurologist here.  Here is what we know:

* We still have no diagnosis;
* Because of some very specific tests that have been done in the past couple months, we do know that Peyton is severely copper deficient - as in, almost non-existent;
* Peyton's case is exceedingly rare - so rare that she may be "it";
* There is no protocol for treatment because of the rarity of Peyton's condition;
* You don't just "get" copper supplements.  It's not like grabbing some iron pills from the pharmacy;

All of that said, and leaving a whole lot of detail out, in a nutshell, Peyton is likely going to wind up being a research study in and of herself.  We are filling in paperwork to have our family enrolled with The Manton Center for Orphan Disease Research.  Enrolling in this will enable them to place Peyton into a research program.  There is a specific gene that they need to look at.  I won't get into that now.  We all have to be enrolled because they may require samples from the rest of us {including Moira} at some point.  We've sat on this paperwork but I'm working hard to get it finished ASAP.

Dr. T. has been talking with various specialists, including a doctor with NIH {National Institutes of Health} who is apparently one of the world's experts in copper disorders.  This actually came about this week.  Dr. K. is in agreement with Dr. T. in having Peyton tested for this specific gene.  The issues with copper supplementation are namely that it is impossible to come by in the U.S. right now, and we don't know if it is even going to have an effect.  We have to weigh the potential benefits for Peyton with what we are willing to put her through - to what end.  Dr. K. has a research study that is on-going which involves copper deficiencies.  Not what Peyton has specifically - but there is the potential to receive supplements through this program.  Dr. K. is willing to talk with us and we can learn about this program and see if this is something we want to participate in.  If so, it's going to mean a trip to Bethesda, MD.

All that said, Peyton is going to require extensive testing before anything can be done.  She'll definitely be involved in research through Boston.  Whether or not we go to Bethesda has yet to be determined.  Peyton is going to require bloodwork, a lumbar puncture, and a skin biopsy at the very least.  There are specific enzymes that they need to examine.  Copper deficiency can have an effect on multiple organ systems.  We need to find out which ones and how they are being affected before any sort of therapy can begin.  As for therapeutic copper supplementation, Dr. K. feels that it is less likely to have an effect on Peyton given her age - it may be too late for this.  That said, it's something we should still consider. There are just too many unknowns.  Will it work?  What impact will it have on her?  I think there's a whole post just on describing what copper's effect on the body is.  I'll leave that for another time!

Right now we have a lot to consider.  It's looking like a Boston trip will happen in early Spring, perhaps.  There definitely will be one.  The Geneticist {Dr. T.} would like to see her, as will another doctor up there.  If we do participate in the NIH study, there will be a trip to Bethesda.  That would be so easily combined with a road trip to Boston.  The question is will the timing of things required for Boston and Bethesda line up to make that possible.

Please Lord, allow our vehicle to handle the possible multiple trips.  Allow things to line up so that Moira doesn't have to travel with us {which frees up space in our vehicle but, more importantly, frees her from the stress of having to deal with all of the "Peyton" activity that will go on}.  Most importantly, Lord, grant all of these physicians the exact knowledge and wisdom where Peyton is concerned so that they can do the exact right thing for her.  While you're at it, Lord, grant us as her parents the wisdom to know that the decisions we make on Peyton's behalf are exactly the right ones for her.

An Outpatient Update

I have been meaning to write this post for the past few days or so.  I've been in a "writing funk" and haven't blogged much either.  I'm just not feeling it.  That said, I do need to update you on Peyton's current situation.

Last Tuesday (10/30) Peyton had Cardiology and Pulmonology appointments.  It was a long day but glad we went.  It is so difficult to get Peyton out of the house to go to an appointment.  If you were to tell me right now we had to go somewhere with her, I couldn't be ready to leave for at least 30 minutes.  At least.

Anyway...

Cardiology.  She had her last echocardiogram while she was in the hospital last month, so she didn't need another.  Some of her odd symptoms appeared like they could be cardiac in nature, but after looking at the echo, it's not likely.  For example, the edema (swelling she was having in her face) might be a sign of right ventricular failure, but her echo did NOT show that.  She does not have right ventricular failure.  So that's a good thing.  The measurements they got did show that the left side of her heart is ever so slightly enlarged - like one point outside of the normal range.  Not terrible.  Her mitral regurgitation and heart murmur have been described as moderate.  I don't think those have gotten worse.

We first discussed everything with the fellow. Then he came back in with the regular cardiologist and a 4th year med student.  We talked with them for quite a while.  He definitely seems very concerned about Peyton's overall condition.  While the main issues she's been having the past month or two don't appear to be cardiac in nature, he is definitely concerned enough to want to do extra bloodwork on her.  He is particularly concerned about her albumin and hemoglobin levels.  They are low.  She's pretty anemic.  For some reason, Peyton has never had a blood transfusion, although we thought she was going to wind up having one last month, if you remember.

After a lot of discussion, he ordered labwork which we are going to have done on Tuesday this week when we bring Peyton in for her Neurology appointment.  We'll do the labwork first.  Once it's done, we'll call Cardiology and let them know it's done so they can be looking out for any preliminary results.  His hope is that he can get some results and then talk to the neurologist while we are still there.

We still have some outstanding tests from when Peyton was in the hospital.  We are hoping that we will be able to get some of the results when we see the neurologist.  The geneticists in Boston wants Peyton to have a shunt tap to get some CS fluid.  However, the neurologist here is hoping he can just do a lumbar puncture.  We're going to try to set that up.

Cardiology wants to do a heart cath, so we may try to coordinate that with the lumbar puncture.  The heart cath is going to require an in-patient stay, so that's out there.

As for the bloodwork on Tuesday, the cardiologist wants to see how the numbers compare to her last bloodwork done while Peyton was in the hospital.  He is wanting to bring her into the hospital as an in-patient - hopefully for a short stay - to do a blood transfusion and maybe an infusion of albumin.  I'm not sure if he has other things in mind as well, but he said he would like her brought in for a "tune up".  Her levels are really low right now and she's just not herself.  It's actually been pretty sad to see.  It is our hope that these treatments can help to bring her around to something of her former self.

To help ease some of the load on her heart, and possibly some of the edema (which actually hasn't been bad lately), the cardiologist has started her on Lasix. You can find more on that drug here - http://en.wikipedia.org/wiki/Furosemide.  In short - it's a diuretic.  If we can ease the load on her heart, then the thought is that it may in some way help with the regurgitation.  Go here to find out more about mitral regurgitation - http://en.wikipedia.org/wiki/Mitral_regurgitation.

For the past 5 days, we've been dealing with a Peyton who is not herself.  She doesn't look well.  I emailed the Cardiologist today to give him a heads up as to what has been going on with her lately in case he wants to expedite the treatments he has in mind.  She is lethargic (she's been sleeping since before 4pm and it's 7:50pm now), she's irritable, she has had diarrhea for 4 or 5 days, and so on.  The home nurse today is concerned that she has c diff.  You can read up on that here - http://en.wikipedia.org/wiki/C_diff.

I am so tired right now. Every time I feel like I've reached a new level of exhaustion, something changes and I reach a new level...again.  Today began with the suspicion of c diff.  I already have had increasing levels of concern about Peyton but once that happened, I became even more concerned.  I wasn't sure if this would entail a trip to the ER or to the walk in clinic or what we would need to do.  The nurse called the doctor's office (they are open 365 days with weekends being "walk in" from 9:30-noon) but they didn't have their phones taken off the answering service.  We didn't get through til almost 10am and then the nurse left a message with the nurse at the office to see what we were to do.  Finally she had to call them back at 10:50 to see what the answer was.  Ron, Moira and I usually go to the 9:30 service at church on Sunday, so we were unable to go.  At 10:50, we were going to have to be leaving to catch the 11:15 service.  I wasn't sure if we'd get to that either.  The answer wound up being that we had to go get a probiotic for her.  We left, worried about Peyton.  By the time the service began, I was really teary.  Fortunately, I could hide that behind the powerful emotion of one of our pastor's spoken word dialogue and a very powerful video about one of our church's family's adoption journey and new ministry as this was Orphan Sunday.  Normally I am into the music and worship and all that, but today I just wanted to sit and cry.

I'm just concerned and I'm not sure what is going to happen in the coming days or so.  I will keep you posted.

There are many people at church who have been providing meals for our family since Peyton came home.  You can't even imagine how grateful we have been for your support.  We've had some very delicious meals thanks to you ladies!  Thank you so much!!

I will keep you posted on how this week goes.