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.

Various Updates

This past Thursday, I took Peyton to her regular opthalmologist. For the first time in weeks, the doctor got a good red reflex from her left eye. This was a good thing! There is some part inside the eye which has been swollen for a few weeks. The doctor increased her medication for that. Hopefully it will be much improved when we go back next week. This was the first time in weeks that this doctor didn't either call or send us over immediately to the glaucoma specialist!

In the afternoon, we had Peyton's 9 month check up with the pediatrician. Her weight is down roughly a pound since the feeding tube was removed a week ago. We need to get her feedings back up to what they were. She's doing, at best, about 18 oz a day which is not quite good enough. She needs to be closer to 28-30 oz a day. Still, it's much better than we'd thought she'd be doing. Hopefully given a little time, she will improve. We don't want her weight dropping off. That was a little too much for one week.

I spoke with the neurologist this week as well. The results of the skin biopsy from about 6 1/2 weeks ago showed no chromosomal abnormalities. So, Peyton does not have the syndrome he thought she had. So we are no further ahead than we were before. He and her pediatrician still feel that this "constellation" of symptoms is a syndrome. However, it would have to be so rare, probably, that it is an undiscovered syndrome. For now, it's that "Peyton" syndrome. We have no diagnosis and no prognosis. In fact, at this point, if we were to find out what syndrome it is, it would probably be a matter of treating each symptom therapeutically and following her development very closely because there wouldn't be enough research available to say what should be done or what the long-range outcome of such a syndrome would be. Very sad and frustrating, but that's where we are at with that.

We had a wonderful visit with Moira's godmother, Debbi, and her daughter Emma. Moira loved having another little one in the house to chase around. I think they wore each other out! It was great to see them. Hopefully it won't be too long til we see each other again. They flew back to Tucson, AZ this afternoon.

All in all, it was a really good week. I was a little stressed out as to what might be. Hoping for more news on the genetics front, but it is what it is. We'll keep you updated as always!

Beginning a Journal

We took Peyton to her neurologist yesterday afternoon. He is extremely dedicated to her case and is constantly researching. He is baffled by all of Peyton's conditions. Until recently, he could not find a single syndrome which could explain why Peyton was born with all of her issues.

Peyton had an MRI done on 11/30/06. It confirmed the things we already knew - the partial agenesis of the vermis and underdeveloped cortex. She had been classified as having a Dandy Walker Malformation. In addition to these problems, it was noted that she has a possible dismyelination disorder - the brain is either not myelinating at the normal rate, or it is myelinating abnormally. Neither sounds good. Also of significance was the presence of a bony protrusion and a tightening at the craniocervical junction. We are to see a neurosurgeon next week, 1/18/07, to find out if surgery is recommended. We don't know a lot about what this means, but the doctor has some serious safety concerns with Peyton. There is the possibility that if she were, say, to get whiplash, a very serious spinal injury could result. We need to be extremely careful with her.

In his reasearch efforts, the neurologist has come across the possibility that Peyton may have Trisomy 17 Mosaicism - a variant of Trisomy 17 where some cells have an extra 17th chromosome. There are only 4 known cases of this syndrome in the world. When Peyton had her latest glaucoma surgery on 1/08/07, her neurologist went in and did a skin biopsy in order to have some genetics testing done for this syndrome. She did have genetics testing for 500+ disorders and that all came back fine. This disorder is more subtle than what can be detected thorugh a blood test, hence the skin biopsy. We will see what that testing reveals.

This particular visit to the neurologist was probably the scariest. He is very concerned for Peyton in terms of her safety, her mental and her physical development. He did not say a whole lot, but we felt very much like this was the most grim he's ever been.

We'll keep you posted once we see the neurosurgeon next week.