Ten Months & A Diagnosis

On Monday, March 3rd, 2,849 days after Peyton was born (407 weeks exactly), we received a DIAGNOSIS. This came exactly 303 days (or 42 weeks and 2 days) since Peyton passed away. As in her life, Peyton's diagnosis is complicated. 

The gene is SLC33A1. Boston Children's Hospital was working on a theory that Peyton had an EXCEEDINGLY rare copper disorder linked to this gene. Two mutations need to happen to have this disorder. We knew she had one. We found out this past Valentine's Day that she may have had the second, but more studies were needed. The research was being done through both BCH/Harvard and the NIH in Bethesda, MD. 

We have confirmed that Peyton DID have two mutations on SLC33A1. This gene's responsibility is to transport copper through membranes of the liver. What was discovered is that Ron had one of the mutations and I had the other. We had also discovered Moira has the same mutation as me.

Here's the thing. Ron's mutation is the ONLY documented mutation of this sort EVER in medical history. My mutation is the ONLY documented mutation of this sort EVER in medical history (well, except for Moira). We know these mutations are inherited, so they came from somewhere. But Ron and I have a mutation (each one different) that is unique in the world. Clearly this must exist elsewhere in the world, but everyone in the world isn't tested for these things, right?! Both Ron's and my mutations are "wonky", but my mutation is worse. Ron is missing 10 letters of his gene (whatever that means). I only have 1/3 of that gene. We are healthy. Moira too. If there were to be a problem related to this mutation, Moira wouldn't be here. The combination of these two mutations is lethal.

Peyton's diagnosis is the ONLY RECORDED DIAGNOSIS EVER in the world. Ever. The case study they were studying when they were hypothesizing what Peyton's disorder was is on the same gene, and there were only about 5 children involved in the study. Each of those children had two mutations on this gene. Each child in this case represents a unique, individual set of mutations on this gene. Each one unique, but the same gene. Of these children, Peyton lived the longest.

Think about it. Knowing what you know now...consider the odds. What are the odds that Ron and I would meet up?? I grew up in Canada and he grew up in Texas. The odds are mind blowing. As I listened to all of this, this scripture went through my head over and over:

"For we are God’s masterpiece. He has created us anew in Christ Jesus, so we can do the good things he planned for us long ago." (Ephesians 2:10)

I don't believe that Peyton's story is over.  Just as those 5 children in the study I mentioned helped to bring us to the point we are at today, so I imagine Peyton may help someone else one day.  Even after sleeping on all this information last night, my mind is just blown away by everything.  The odds of Ron and I getting together.  The odds of each person with mutations on this gene (the children and us parents) each having a separate, distinct, unique mutation - one combining with another - to form a child with this disorder.  Then I consider all of the events that lined up in our lives to get to this point.  Had we not gone to Boston in 2012, we may never have learned what we learned.  I don't think we would have.  

What we do not know here on earth, I believe God certainly does know.  He is the master planner of it all.  He orchestrated everything from beginning to end.  Having an answer doesn't explain the "why her" questions and it doesn't bring her back.  In fact, having the answer would not have saved her.  I just know that I believe that each moment and each piece of this journey has been a part of a God-orchestrated plan for some greater purpose which we may not have the ability to understand.  Maybe not now.  Maybe not ever.  I doubt the families of those 5 children ever learn about us, but if it weren't for them...  

Mind blown.  That's about all I can say right now.

P.S.  Yesterday I shared part of Peyton's story and our testimony over on the "Monday Matters" feature at Matt Ham's blog.  If you haven't, I encourage you to head over there and read it.  You can click HERE to jump over there.

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.

Back to the Hospital

We thought we were in the clear when it seemed that Peyton did not get that nasty GI bug that Moira, Ron and myself all got.  Yet this morning, we wound up taking Peyton to the ER.  Not with a GI bug, but yet another respiratory ailment.

I've spoken several times lately about how Peyton is requiring oxygen during the day while awake - something that never used to be the case.  This has not changed for the past several weeks.  However, over the past couple of days, the amount of oxygen she is requiring during the day has increased.  She has also been a little on the junky side, with increased heart rate and the odd low grade fever here and there.  I've been in touch with the Pulmonary clinic about her condition and it was suggested that perhaps we might need to start a course of IV antibiotics.  We can manage this at home since she has a port.  By the time last night rolled around, I was thinking I'd definitely make the call to the pulmonary clinic to suggest that we get that started.  Peyton was sounding horrible and it didn't look like we needed to wait on this any longer.

Then this morning came around.  Peyton was hot to the touch so I undressed her and got a temp on her.  She had a temp of 100.8.  That may not seem like a raging fever, but you have to bear in mind that her "normal" is upper 96 degrees to mid 97 degrees.  And, of course, we're ultra cautious anyway, so 100.8 isn't anything to mess around with.  In addition, she sounded even worse and she just looked "off".  I made up my mind that we were going to have to take her to the ER, but I also knew we'd have to call the home nursing agency pretty quickly to call off her nurse for today.  She has transportation issues, so we would have to be sure to catch her before she left, as she has someone bringing her to work.  No sooner did I form that thought did the agency call me to say that she had called in sick so I guess for today it all worked out.  Ron got Moira on the bus to school and I got Peyton and her gear ready to go and we headed off to the children's ER at MUSC.

Ron dropped us off at the door and then went to park the car.  I went in with Peyton and we were taken back to a room pretty quickly.  Once in a room, it was mere minutes before a doctor was in the room.  It seemed almost immediate.  While we did bring her in because she was obviously sick, apparently she was sicker than we realized.  The doctor enacted their "rapid response" protocol immediately based on their assessment.  This meant that her port was accessed within minutes and a bolus of fluids was pushed through very quickly.  They gave her additional fluids shortly afterwards.  Antibiotics were ordered and given fairly quickly as well.  A second antibiotic was given not long after that.

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A lot of blood was drawn for labs and a chest x-ray was also done.  The x-ray doesn't look too bad.  We're still waiting on the blood work results.  The doctor was in several times.  We knew pretty early on that Peyton was going to be admitted to the hospital, but there was some concern over whether it would be to the PICU or to the PICU step down unit.  They eventually decided on the step down unit.  With the fluids and oxygen, Peyton's color and mood started to improve a little.  Her heart rate finally came down out of the 150s.

We didn't spend a horribly long time in the ER before Peyton was taken to a room.  She is under the care of the PICU doctors, as opposed to the general peds team.  She wasn't in the room long when her Neurologist came by.  He just happened to notice in their computer system that Peyton was in, so he came by to see what that was all about.  I was glad, since I was actually going to email him to let him know.  We discussed the lumbar puncture and other research type issues that are hanging out there for Boston.  He is thinking that if she is doing ok, he may be able to do the lumbar puncture on Thursday.  

In addition, he is talking about contacting the researchers {Children's Hospital Boston and NIH} to see what we can do about expediting some of the stuff that's hanging out there in the hopes that we can get her some form of treatment.  Of course, it's research and there are FDA guidelines and I'm sure other sorts of hurdles to cross, but he is hoping that somehow he might be able to take some of that from them and perform whatever needs to be performed right here at home rather than have her travel.  He is looking at it from the point of view of being "emergency and compassionate" reasons.  We will see what happens.  I would say that if someone said we were needed up in Boston in the next month, we probably wouldn't be going.  She needs to have all this stuff done, but it's getting to the point where it just isn't going to be feasible because of her medically fragile state.

We aren't sure what is going on.  There is the great possibility that what is {and has been} happening are not so much an illness as they are signs of her overall condition diminishing.  As the PICU doctor said, often children with severe issues like Peyton, over time, will become weakened in the areas involving swallowing, breathing, and so on and what appears to be an illness might actually be more of an inability to perform these functions well.  We just don't know.  I would suspect, though, that because of her increased oxygen requirement during the day that it is the latter.

In addition to all of this, Peyton's level of pain today must be excruciating for her.  She is on Neurontin and Oxycodone for pain, but it seems like that's not doing anything.  I noticed it first thing this morning.  I barely touched her leg and she began screaming out in pain.  I don't know what is different about today but it is unbearable for her to be touched or moved.

We pray.  We pray often and we pray hard for Peyton.  The problem is that we don't know which direction our prayers are supposed to take.  It is heartbreaking to see your child enduring so much.  You wonder how much a body can take.  In addition, this isn't something we've really talked about openly, but we're being asked questions that no parent should have to answer for their child regarding the "what if" scenarios.  As much as you are praying for Peyton, please pray for us that we will have the wisdom to make the best decisions for her.  Please feel free to share this site to people you know would be willing to pray for Peyton. She needs many prayers!!

Thank you!

Research Studies

Peyton has been doing about the same as usual for the past couple weeks.  She is still having issues with maintaining good oxygen levels, so she is spending most of the time on oxygen via nasal canula.  Her heart rate continues to be a little higher than normal as well.  Earlier this week, Peyton completed a two week course of antibiotics. We weren't really sure what was going on, so the pulmonary doctor put her on antibiotics just in case she had something brewing.  It doesn't seem to have done anything at all.  I spoke with the clinic the other day and she is going to start on an oral steroid for about 4-5 days to see if anything changes.  She quite possibly has some inflammation so it may help with that.  We shall see.

In other news, just prior to Christmas, we finally completed all the paperwork that was necessary for the Manton Center for Orphan Disease Research at Boston Children's Hospital.  This is the research center that Peyton has been brought into to see if they can unlock the mystery of her genetic disorder.  We sent in the research consent forms - one for each of the four of us.  A couple weeks ago we spoke with one of the people at the Manton Center regarding the study and what our next step would be.  We are awaiting kits from them which will have everything we need to have blood samples from Ron and I and a saliva sample from Moira sent back to them.  We'll take that to the lab at MUSC here and they can coordinate the delivery of the samples.  Boston Children's Hospital has Peyton's blood already, so hopefully there is enough for them to provide to the Manton Center.

Peyton's Geneticist in Boston is wanting to look at a specific gene based on the research he has done which has him believing her to have an exceedingly rare copper disorder {think in terms of her being one of 5-10 people in the world or quite possibly even more rare than that}.  If it is normal than they will move on to whole exome sequencing.  Right now, through regular testing, Peyton could have whole genome sequencing done to the tune of about $10,000.  When the Geneticist at MUSC mentioned this to us, it was not covered by insurance.  I am not sure if that has changed.  This test is, by far, the most advanced genetics testing available to the public.  Whole exome sequencing is still being done on a research level.  That testing is even more advanced than whole genome sequencing.  So, if she has this test, it will be the most advanced testing known ever.  It will be covered through the research study, so that is good!

This particular research study is on-going.  This means there's no end.  They will continue to work to find answers for us.  It's for patients like Peyton who have exhausted all other options of testing and who still remain undiagnosed.  The study is anonymous, so any labels pointing to Peyton are removed. She becomes a number for research purposes.  However, should they find anything, it will be reported back to her Geneticist in Boston.  Nothing will go into the patient record since it's an anonymous study If there are findings, we would have to go through a clinical lab {as opposed to the research lab} so that the findings could be officially be added to her medical record.  The clinical lab would require new samples for their requirements.

If nothing turns up in whole exome sequencing, then they will keep on researching and testing.

In addition to this, I was given the name of a doctor at the the National Institutes of Health in Bethesda, MD.  He had been up at Boston Children's Hospital and our geneticist up there had spoken with him about Peyton.  They are very much on the same page about what they think is going on.  This doctor is apparently a world expert in copper disorders.  While Peyton has a copper disorder of some kind, if you were to google copper disorders, I'm pretty sure I could tell you that none of the ones you will find are what she has.  She doesn't match up it the known copper disorders, yet the copper in her system is virtually non-existent.

This doctor at the NIH is doing clinical trials with copper supplementation.  It was up to us, but our geneticist spoke with me about contacting him to see about getting into that trial. What this means is that if we go this route, there are a lot of tests to have done on Peyton prior to starting any copper supplementation.  We were already planning on having this testing, but for sure it would have to be done before receiving any copper supplementation, regardless of where we would get it from {Bethesda or perhaps eventually Boston}.  We are working with Peyton's neurologist here to coordinate her having a lumbar puncture.  Similar to testing for meningitis, but the requirements for her test are much more strict {I will say that - they require a "pristine" sample.}.  She will also require a skin biospy at some point.  I am not sure if that will be done at MUSC or Boston Children's Hospital.

I have emailed Dr. K in Bethesda about the clinical trials so that I can introduce myself and to find out his thoughts on Peyton's participation in the trial.  I haven't heard back yet, but it's only been a couple days.  If we get in on that, we'll try to coordinate things so that we go to Boston and Bethesda in the same trip.  Apparently the Bethesda trial covers expenses so perhaps that's a separate trip that's covered.  Peyton cannot fly {impossible with all the equipment she requires}, so unless they get her a medical flight and have her stay in a hospital there, I'm pretty sure we'll have to drive.  It's on the way to Boston so it wouldn't be out of the way on a trip up there.

Aside from all of that, I have a new blog design!!  If you're here, then I'm sure you noticed it!  If you can believe it, I did it all by myself!  I'm pretty excited about how it turned out.  I hope you like it too.

Aside from Moira being down with the flu right now, I suppose the only major newsworthy item to report is that Ron's company recently {last week} had a surprise round of layoffs.  It was a tense day when that happened.  While we waited to hear if the cuts were finished on that day, we discussed a back up plan.  It isn't pretty...but it's a plan.  Thankfully, Ron's department was spared cutbacks, so all is well.  It made the news here.  I'm not sure how extensive the coverage went, but if you heard about layoffs at Blackbaud...that's where he works.

I will update you with any further developments on this whole research thing or if anything comes up with Peyton's current health issues!

Moving Forward

I feel like we are picking up a little momentum where Peyton is concerned right now.  I mentioned yesterday that I had spoken with Dr. T. in Genetics in Boston regarding the latest news on that front.  I tackled 3/4 of the paperwork that needs to be done for the Manton Center - that's the research group in Boston.  The other 1/4 is Peyton's portion.  Turns out the rest of our paperwork was fairly straightforward.  Peyton's, of course, needs the more detailed medical history and requires more effort than I can muster up right now.  I have been sick for the past few days.  A trip to urgent care yesterday and a Z Pak should do the trick.  Then I will finally be able to get this done and on its way up to Boston.  The other 3 packets of information are already en route.

This evening I received a call from Peyton's Neurologist {Dr. K.} here in Charleston.  He was calling to discuss Peyton's case with me in light of his recent conversations with Dr. T. in Boston.  I think that's his new best friend now.  If ever I could be a fly on the wall in the middle of a conversation - it would be the one between the two of them.  I think it would be fascinating.

Dr. K. is aware of the possibility for Peyton to become involved in this on-going research study at NIH in Bethesda, MD.  He seems to be on board with this plan.  Dr. T. asked us to consider it and contact the other Dr. K. at NIH regarding the study if we were interested.  Dr. T. could go either way. Dr. K. here at MUSC actually knows Dr. K. at NIH.  He seemed quite interested in this study to see where it might lead for Peyton.  I think we all agree that it falls into the category of "no stone left unturned" or "nothing ventured, nothing gained".

The next step right now is the lumbar puncture that I had previously mentioned.  Dr. K. at MUSC is going to do that.  He wants us to think about it, but really, it is the next step we need to do.  It's necessary for Dr. T. in Boston to have results of a lumbar puncture to help establish a base line prior to any form of copper supplementation.  The LP is probably going to happen around the second week of January.

While I had him on the phone, I asked Dr. K. about increasing Peyton's Neurontin.  She is on this for pain for her hip and shoulder.  The generic name for Neurontin is Gabapentin.  For whatever reason, every time I open the fridge to get a dose or Peyton, I keep calling it Yo Gabba Gabba-pentin.  If you have a small child, you'll possibly find that mildly amusing.  Gotta do something to keep things interesting, right?  I digress.  Dr. K. is on board with an increase in her dose {it's already 3x/day, but the amount given with each dose will increase}.  We've noticed Peyton's pain level in the past week or two seems to be on the rise and we're having to give her Oxycodone between doses of Neurontin.

There is the possibility that Peyton will need a hip x-ray to check the status of her hip dysplasia.  He suggested a possible sonogram as well.  He also suggested that perhaps botox might be considered, but I don't know what my wrinkles have to do with her hip pain! I kid.  Like I said, I have to do something to keep things interesting.  We'll see how the increased meds help and go from there.

That's about it for now.  I was excited to have another phone call from another doctor this week.  Things are moving forward.