(Written on July 21st, 2022)
Today marks one year from the worst day of our lives. I decided I should probably check in and provide a few updates – a few updates that probably could have been posted sooner but you guys know….life happens and man, I have been busy.
The last blog I had mentioned we would be:
1) Meeting with a Pediatric Hepatologist to discuss his thoughts and theories on GALD/NH and Stevie’s health in general
2) Seeking results from Whole Exome Sequencing
We met with a Pediatric Hepatologist in March. I think the best news that came out of the meeting was he was able to definitively rule out GALD/NH. He too, along with the Maternal Fetal Medicine doctor, thought Stevie would have been displaying liver issues much earlier on, likely while still in utero. His theories as to why she passed lied more with a possible metabolic or mitochondrial disorder, and was anxious to hear what came out of Whole Exome Sequencing.
We went with Whole Exome Sequencing as somewhat of a “last ditch effort” in understanding what may have happened to Stevie. Since our genetic carrier testing came back with nothing significant and no signs we passed something on to Stevie, we still had so many lingering questions as to what really happened.
Whole Exome is often done with people that are still alive. According to Cincinnati Children’s, “The purpose of whole exome sequencing is to try to find a genetic cause of your or your child's signs and symptoms. Most people who have WES have already had some genetic testing. WES is one of the most extensive genetic tests available.”
Whole Exome involves a genetic team examining every piece of an individual’s DNA. Getting Stevie’s blood from the coroner’s office to the lab was a task, but every person we have worked with on this journey has been so helpful. I had to contact the Sheriff’s office to inform them I was willing to release Stevie’s blood, they then had to send the inquiry to the Medical Examiner, the Medical Examiner then had to package it up and send it to the lab of our choosing (with guidance from our genetic counselor).
I think one of the frustrating parts of this, however, was when our genetic counselor mentioned that the lab would need the DNA sample to be “good enough”. I know our genetic counselor was just doing her job to manage expectations, but I think this comment really rubbed me the wrong way because I watch way too much true crime to know that people are convicted on decades-old DNA! So don’t tell me you don’t think our daughter’s DNA will be good enough for testing.
Stevie’s DNA was submitted to the lab on February 28th, and we heard back from our genetic counselor about the results on April 14th (ironically, our 10-year wedding anniversary). The lab found that Stevie had one genetic mutation, which was passed on from me. The mutation was related to epilepsy, but both our genetic counselor and a geneticist ruled this out as being harmful and/or related to her passing because Stevie did not display any symptoms. She received this gene from only me because it is dominant; and, knowing now that I also have this mutation and no symptoms helped to rule it out as causal to her passing.
The only thing that was not tested in Whole Exome was mitochondrial DNA. Had we known ahead of time the differences between nuclear DNA and mitochondrial DNA, I think we may have pursued different testing. Most DNA, known as nuclear DNA, is found in the nucleus of our cells. However, mitochondrial DNA lives in the mitochondria of our cells. Whole Exome Sequencing only looks at nuclear DNA. Mitochondrial diseases are passed maternally, not paternally. From my limited reading on mitochondrial disorders, it appears to be quite literally the luck of the draw as to what is passed on – according to our genetic counselor, most mitochondrial conditions are caused by a random mistake and not passed on. Our genetic counselor also noted that mitochondrial conditions can be varied and sometimes affected people do not have any symptoms at all; it can be very hard to tell.
So, if you are like me, learning about mitochondrial DNA and mitochondrial disorders was wildly frustrating. Ever ask someone a bunch of questions but all of the answers do not help you whatsoever? Yep, that’s kind of how I felt with this.
After this, we decided not to pursue mitochondrial DNA testing because of how random the likelihood of a child receiving mutated genes that result in a mitochondrial disease, AND be affected by that disease is. This article is easier to understand versus some of the scientific articles I have read (if you are interested): https://theconversation.com/mitochondria-mutation-mystery-solved-random-sorting-helps-get-rid-of-duds-92794
We were also pretty exhausted at this point after waiting for autopsy results, talking with several doctors, waiting some more, trying to learn, etc. A friend of mine asked me, shortly after we got the Whole Exome back, about motivations of parents that do not do any research after they lose a child. I told her that everyone is different – some people want to understand the scientific reasons as to why they lost their child, and others have made peace with not knowing. I think for Jared and me, we were very dedicated to learning more information in an effort to responsibly move forward with having children in the future….in essence, if there was something we could have controlled, we wanted to know that for the future. BUT, there are other parents in our support group that never pursued any type of genetic testing or tried to find reasons why, and went on to have more children with no issue. They keep us hopeful.
I think this then leads to a very uncomfortable thought. Could the loss of babies (unexplained losses, no known causes) all just be ……“random”? A woman in our support group mentioned her frustration with a doctor saying “it’s a fluke” or “it was random” because it felt like the doctor was downplaying the severity of what happened. And, I definitely agree with her. But at the same time, I also think it’s very hard to accept that we have no control. We want to know WHY. Why our child? Why us? What did we do to deserve this punishment? Because at the end of the day, there’s really no logical reason. You can try to find reasons via your own spirituality, but that’s still not fact-based science – and that only leads you down the “how could you let this happen?” cycle of questioning.
I also think this makes it very real for other parents in that…..it can happen to literally anyone. I know that’s a scary thought for everyone, but it does feel like sometimes we wear this badge as a reminder to others. It does not matter how nice, hard-working, motivated you are. It does not matter what type of parenting traits you carry. It does not matter where you come from, how you were raised, what other trauma you’ve experienced in your life. It can still happen to anyone. And that freaking sucks.
Anyway, so I know that just took a dark turn….my thoughts and feelings still ebb and flow. I will say, I have gotten better throughout this last year of working through traumatic and dark emotions and begin to steer them towards happy memories. Some days are better than others. Today it’s hard not to walk through our actions from one year ago, and think through the same cycle of “would we have done anything differently knowing what we knew then?” and ending up at the same answer – no. But our bodies still have the same intrusive thoughts and still require us to recycle through irrational emotions then followed by more logical thoughts.
Once we decided to finish up our “seeking answers” journey, it was a pretty weird feeling. We had spent so much time occupied on it.
Autopsy results – took 4 months
Genetic carrier testing – took 6 weeks
Met with Pediatrician – 6 months after her passing
Met with MFM – 7 months after her passing
Met with Pediatric Hepatologist – 8 months after her passing
Whole Exome – took 6 weeks
It took almost an entire year from her birthday to do all of this. In between results and consultations, I spent most of my free time googling and researching. I can tell you an unhealthy amount of information about genetic testing and a long list of rare diseases. At this point it was like we were standing on a precipice. Looking backward was all the work we put in to find out more information and man, it was emotionally exhausting. Looking forward, we had done everything we could do and had to accept that we may never know what really happened to Stevie. The future was open but also had an empty feeling because all of our work was coming to an end. So we started to move forward. We focused on Mother’s Day, Stevie’s birthday, Father’s Day, and now the anniversary of her death.
I will say overall that I think we are doing well, considering the circumstances. There were times immediately after that I was not sure how we would survive this. And there were times in the fall where I would stop and say “I’m doing this…I’m getting through it….I have no idea how but I am”. We still have intrusive thoughts. And there are days where we have to tend more to our grief. But it’s getting better.
One Positive Thing:
Probably two days after Stevie passed, I woke up in the middle of the night with a small moment of clarity, thinking about how to honor Stevie through our physical fitness. In CrossFit, we do memorial workouts to commemorate fallen heroes (military, fire fighters, police officers, etc who have died in the line of duty) – we call them hero WODs (workout of the day). They are typically very difficult workouts, meant to mimic the suffering that individual went through.
We wanted to do something similar, and we landed on rucking 57 miles for the 57 days Stevie was alive (yes, all in one go). It was something we could start training for immediately, as I had to keep a lot of postpartum care in mind for myself – walking with a pack was well within the realm of possible.
So we started training for it. At the end of October, we had gone about 20-22mi as our longest ruck, and decided to take a break. Jared was having some pain in his calf and ankle. We were also finding that it was a massive time suck attempting to train for it, and it may be easier for just one of us to do it.
In March, we decided Jared would pick the training back up to do the 57 miles on the anniversary of Stevie’s passing. I ended up biking 57mi on her birthday (some of you may have seen via facebook), while Jared trained as much as he could, mainly over the weekends. Beginning at 5am this morning, he began the ruck with the intent of attempting to finish by midnight. I joined him around 1pm and went 6mi with him, and then planned to head back around 10pm for the final hours. About an hour or two after leaving him, Jared called me and mentioned he was calling it. He had gone 33mi, but a large quarter-sized blister on his foot had popped. When attempting to change his gait to compensate for it, everything got worse relating to pain/soreness. So, in an effort to be smart and not do any long-term damage, he stopped.
Regardless, Jared continues to be the man that always impresses me. There is no doubt in my mind he would have finished the full 57mi if he had not experienced the blister (he also found a few more once at home). And I know Stevie was somewhere, rooting for her daddy – I know she is proud.
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