Sunderland: A heart update when your genetics turn on you – East Idaho News

From the Editor 0Updated at 3:08 pm, February 14th, 2017 By: Nate Sunderland, EastIdahoNews.com We Matched

My son Michael, 10, acting like the genetic test was no big deal. He didnt even flinch when the needle went in. Then he bragged about his bravery for the next several hours.

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.

Im not dead. Obviously.

And since so many of you have asked for an update: Im happy to provide one and on Valentines Day. You know, because of hearts and stuff.

The truth is, not a whole lot has really changed since the transplant. Im 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 doesnt set in. Its a process that will likely take a year or more.

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 Im dousing myself in flames. Even just going outside in the sun makes my skin feel like its on fire.

There is also constant tingling in my hands, feet and oddly lips. My wife also says the steroids Im on make me moody and emotional, but Im fairly certain thats 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 cant 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. Its creepy but fascinating to watch a tiny claw on a monitor cut away at your heart.

This is what a heart biopsy looks like. Thats a very tiny claw poking around my heart, which cuts off millimeter chunks for study. The pieces are pulled through a catheter in my neck. And those wires? Thats where my sternum was wired shut after my transplant surgery.

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.

Thats 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 Im 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.

Jacob, 3, was the most apprehensive about the test and it took me and two nurses to hold him down to draw the blood. There were tears, but it was over quickly.

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 didnt have a mutation or that they just couldnt identify one.

Turns out Im 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.

Thats about as clear as mud, huh?

In laymans 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 didnt respond to treatment, I essentially started dying. Thankfully, the transplant saved my life.

The mutation isnt 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.

Thats a scary thought.

My son Xander, 7, doesnt like needles but he got through the genetic test just fine.

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 were 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.

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