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.
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| 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.
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