Wednesday, March 26, 2014

A Year Ago Today...

One year ago today, I wrote a hurried blog post requesting prayers for Peyton as she as back in the hospital once again.  You can read that post HERE.

Earlier that same day, I'd posted a long post about genetics and the possibility of going back up to Boston for a second visit.  You can read that HERE.

As I sit here right now, I am simply amazed that it was one year ago today that Peyton left our home for the last time.  One year ago today, I knew that there was something just not at all right with her.  She was far beyond her normal "self" and was in pain.  It broke my heart each day to see her in pain because she could not communicate to me where she was hurting or what exactly was wrong.  Her health had been declining noticeably for a period of a few months, but this day was a day where things just weren't right at all.

I distinctly remember this day one year ago.  Peyton's nurse and I hurriedly got Peyton ready.  Ron, Moira, Peyton, the nurse, and I loaded up in the car.  Ron dropped Peyton, the nurse and I at the door to the children's hospital ER.  We sat in the ER for ages as the doctors tried to piece together what was going on.  They did discover a new leg fracture, in the same leg as she had had a fracture just a month or two earlier.  "Copper bones", as they would become known.  That's what Moira called {and still calls} them.  Brittle bones caused by a severe copper deficiency.  We wouldn't know that at that time a year ago, really, but that's what it was.




A year ago today, Peyton had a broken leg.  A year ago today, Peyton was admitted to the hospital overnight for pain management.  A year ago today, we had no idea we would spend the next 40 days in the hospital together - she and I for 40 days {I did not leave her to go home once.  I left her room fewer than 10 times in 40 days, for a total of probably less than one hour altogether.}

I did not know how significant our leaving home was on that day one year ago.  I didn't know then that not all of us would return home.

One year ago today, our faith and trust in God began to be shaped in a way it hadn't been before.  Yes, we had tremendous faith and trust in God at this point in our journey.  A year ago today, we began the most painful and difficult part of our almost 7 year journey with Peyton,  It would test and sharpen our faith and trust in God.  It would bring us closer to God than ever before.

One year ago today, our life began to change forever.

And we know that in all things God works for the good of those who love him, who have been called according to his purpose.  {Romans 8:28}


Tuesday, March 4, 2014

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.


Sunday, February 23, 2014

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.


Friday, February 7, 2014

Nine Months

I write today once again dumbfounded that our sweet Peyton went to be with the Lord nine months ago this week.  Three quarters of a year has passed since I held her sweet little hand.  Soon, it will be a year.  The "firsts" of everything will soon be behind us.  It is all at once a relief and heartbreaking.  Those moments of anticipation leading up to the first birthday or holiday without a loved one can be terribly difficult.  In actuality, I am feeling more anxious over the second birthday without Peyton.  She passed away May 4, 2013 and would have been 7 years old on May 15.  Her passing was still so fresh and raw when we faced that day.  In a sense, it is this coming May 15 that truly seems like the first because we will have had barely over a year to process everything when we flip that page on the calendar.

Nine months is an interesting place to be when you are grieving the loss of a small child.  I don't use the word "interesting" in a way that conveys that I'm just sitting back curiously observing this moment in time without emotion.  Not at all.  It is interesting but in a difficult way.  Perhaps it is because I am a woman and a mother.  Perhaps it is because I have had the privilege of becoming pregnant four times in my life, though one pregnancy resulted in an early miscarriage and another a later stillbirth.  Nine months is that chunk of time we associate with the length of a pregnancy.  Though I never actually carried any of my babies to nine months, it is somehow interesting and a little unsettling to reach the nine month mark on the journey of grief.

Why does this thought even occur to me??  I am forty-one years old.  Studies suggest that the prime child-bearing years are between ages 20-35.  I'm no expert, but being six years greater than the "old" end of that spectrum doesn't seem right.  I do remember working with someone once who had two children, both of whom were born to this woman after she was 40, so there's nothing to say it's impossible.  Even Sarah would give birth to Isaac in her old age {Genesis 21:1-7}.  But let's suppose getting pregnant were even a good idea at forty-one.  Pregnancy is not something that agrees with me.  My first pregnancy in 2001 resulted in me developing pre-eclampsia so severely that it would cause our first baby, Jeffrey, to be stillborn.  It also nearly took my own life.  Two weeks post-partum, I would develop a massive pulmonary embolism {that is, seriously large blood clots in both lungs and in the area which spans from one lung to the other}.  That nearly took my life.  Then in 2003 I miscarried.  Then in 2004, while pregnant with Moira, I developed pre-eclampsia again which could have been life-threatening to both of us.  It was, however, caught much earlier and it caused me to be hospitalized immediately.  The end result was that Moira was born 5 weeks early because that could have taken my life.  Then Peyton.  Once again on blood thinners for the duration of my pregnancy, I was a high risk OB patient.  Oddly enough, the pregnancy was uneventful outside of being watched like a hawk because of my past history.  Two weeks post-partum, I was back in the ER with yet another massive pulmonary embolism which, you guessed it, could have taken my life.  Here I sit in 2014 recovering from a non-pregnancy related massive pulmonary embolism which occurred at the end of September 2013.  Once again, I am lucky to be here telling you about this.  To say that pregnancy and my body don't play well together is an understatement.  I am fully and completely aware that it is only by God's grace and healing hand that I am here.

But here I sit nine months down the road of grief and healing, considering the fact that one could have a baby in the amount of time that has passed since Peyton died.  "One" being "me".  Um.  Really??  One of the very difficult things for me to process on this journey has been the fact that we are a family of 3.  Not 4.  Not 5.  And certainly not 6.  We are three.  In those childhood years of mine, I dreamed of having a large family.  I wanted 3 or 4 children.  I guess it didn't occur to me to specify that I wanted them to be here with me on Earth.  Oh, I completely believe that I do have 4 children.  I just never anticipated having our family here on Earth be stripped down to 3 before I even hit 41.  By God's mercy and grace, it is not a family of two right now.

Yet the thoughts rattle around my brain and there are moments where I do wish that we had multiple children filling our home.  Don't get me wrong, I am absolutely in love with Moira and I certainly do not question God's plan for our family.  Yet there are moments where I see other larger families and think how amazing it would be to still be four and not three.  You know when you get a new car how all of a sudden you start seeing your car everywhere?  It's been that way for me in that since Peyton passed away, it seems like everyone and their mother have gotten pregnant.  It's probably no more than normal, but in my mind it's like this baby boom has happened and it's something we can't be a part of.  I'm not unhappy for other people.  I just wish sometimes that that part of our life could be different.  Short of adoption, we will continue to be three.  I don't know what God's plans are for our future.  Who knows what could happen down the road.  God is full of surprises.

Nine months out, there is still much sadness.  There isn't hopelessness.  I don't know that I've encountered that feeling at any point along this journey, even before Peyton passed away.  I have always felt God's presence along this journey.  I know He has been with us every step of the way and He has carried us and sustained us when we couldn't do it ourselves.  Truth is, we can't do it ourselves.  The reality is, we've never had to.  We've never been alone.  We aren't alone.  In a world that has been, for me, exceptionally isolating and lonely at times, I know that I've never been truly alone.

I struggle in many ways.  That isolation I mentioned - that's the biggest thing I struggle with.  I've been recovering from illness and injury in the past 5 months.  Those things have caused me to feel even more isolated.  If it weren't for that, I think I'd still have some sense of isolation and loneliness.  Those are things which existed before Peyton's passing.  Our situation with her put us in this state where no one could possibly comprehend what we were dealing with.  Our encounters with other people outside our family were few and far between.  I think people are very well intentioned, but just don't know what to do or what they can do.  It's the same in her passing as it was in her life.  How many people do you know who have lost a young child??  There aren't very many people who can relate to what we're going through.  Perhaps loss, in general, but most people cannot relate to our experience in any way.  It can be very isolating.

So, the big thing I'm dealing with nine months into this journey is the concept of what is next.  I feel like there is more, but I don't have any idea what it is supposed to be or what it is supposed to look like.  It's very frustrating to know there is more, but to not have a clear vision of what that is and how you're supposed to go after it.  I continue to pray that God will make His plan clear for me so that I know the path He's already laid out for me.  I pray that He will clear out the fog, the haze, and the clutter from my mind so I can be as open as I can possibly be to hear from Him.  Until that is made clear to me, I wait expectantly because I know He has a life of promises ahead for me.  I don't want to miss them because I can't see clearly!