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.