Sunderland: A heart update — when your genetics turn on you
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For the last several months, members of the EastIdahoNews.com team have received a surprising number of inquiries about whether I died following my heart transplant in October.
I’m not dead. Obviously.
And since so many of you have asked for an update: I’m happy to provide one — and on Valentine’s Day. You know, because of hearts and stuff.
The truth is, not a whole lot has really changed since the transplant. I’m still living in Utah in a kind of recovery limbo as my body gradually regains its strength and adapts to this new heart.
Doctors are routinely tweaking my massive dose of daily medications to ensure organ rejection doesn’t set in. It’s a process that will likely take a year or more.
My journey
I’m 32, and my heart failed. I was lucky enough to get another one. You can read about my journey below:
What heart recovery is like
One of weird parts of constantly tweaking medications is the funky side effects.
For one, I get tremors. I shake and shiver constantly for no apparent reason. I feel temperatures differently. I get random chills and when I touch something semi-hot — like getting into a hot shower — it initially feels like I’m dousing myself in flames. Even just going outside in the sun makes my skin feel like it’s on fire.
There is also constant tingling in my hands, feet and — oddly — lips. My wife also says the steroids I’m on make me moody and emotional, but I’m fairly certain that’s not true.
Thankfully, the side effects have been relatively benign for me. There are many transplant patients who have much more severe side effects, so I can’t really complain.
The worst part of transplant recovery are the biopsies — a process where they stick catheters down through an artery in your neck so they can cut out tiny pieces of your heart to test. It’s creepy but fascinating to watch a tiny claw on a monitor cut away at your heart.
Biopsies are used to check for organ rejection. I used to get a biopsy weekly, but the further I get from transplant the less often I have to get them. Now I see my doctors a couple of times a month and get a biopsy and a battery of other tests once a month.
That’s mostly it. Besides the tests and appointments, the majority of time is spent working on the internet in my hotel room or at physical therapy where I’m striving to regain my muscles.
The only major development that has come out of the last couple months is that I now know what actually caused my initial heart failure.
Want to help?
So many people have reached out wanting to help our family that we have allowed a GoFundMe to be created. We are so grateful for the support of our community and continued to be floored by the love we feel from those around us.
You’re all amazing!
Apparently my genes hate me …
Not long after my transplant, my wife and I went to my doctor, concerned our three boys might be at risk for heart complications in the future. Physicians told me to get a genetic test.
I was told given the limited research into genetic disorders that cause heart problems, there was only a 20 percent chance the test would find a gene mutation that could cause heart failure. If the test came back negative, it would mean either I didn’t have a mutation or that they just couldn’t identify one.
Turns out I’m one of the lucky (or perhaps unlucky) few to get a positive genetic test.
In technical terms, I have a c. 84482delC (p. Pro28161Leufs*13) mutation in my TTN (pronounced Titan) gene, which caused familial dilated cardiomyopathy, which is inherited person-to-person in an autosomal dominant manner.
That’s about as clear as mud, huh?
In layman’s terms — everyone has two copies of all their genes — one from mom and one from dad. One copy of my TTN gene contains a mutation, causing it to unravel, which resulted in my heart essentially becoming deformed.
As a result of the malformed heart, I ended up in heart failure. When I didn’t respond to treatment, I essentially started dying. Thankfully, the transplant saved my life.
The mutation isn’t expected to cause me any more problems, since my new heart has a different set of genes. But my children each have a 50 percent chance of the same mutation occurring in their bodies.
That’s a scary thought.
So this last week, we got them tested and are awaiting the results. If any of my children do share the gene mutation, there are things we can do to forestall and treat their hearts to avoid the same situation I find myself in.
But it will be a lifelong change for them — with regular heart tests and/or procedures probably forever.
We should get the test results back by the end of the month.
We are keeping our fingers crossed. And in the meantime — we’re taking this recovery day by day.
Again, I want to thank everyone for the continued support. This trial has lasted for months and months now, and although it seems like forever, it does feel like things are gradually returning to normal.