A Mutation Is Nobody's Fault

I've been sick from Day 1. Coincidentally, Day 1 was also when my parents became my parents...funny how that worked out, huh?

Mama and me, Day 3

Mama and me, Day 3

Daddy and me, Day 10

Daddy and me, Day 10

Jokes aside, cystic fibrosis (CF) really is something I was born with. The 70,000 other people in the world with CF were born with theirs, too, and we all inherited this disease because two specific, defective genes (one from an egg and one from a sperm) combined when we were made.

A necessary thing to realize is that a person needs two defective genes to have cystic fibrosis. If they only have one, they're merely a carrier, normal, symptomless, and often unaware of their silently mutated DNA. For nearly all people with CF, this description fits their parents. It certainly fits mine.

KCSE Online

When they married, my mom and dad had no idea of the hardships they would write into their future child's code. In fact, they didn't even find out that they were carriers of the cystic fibrosis mutation until the day I was diagnosed with the disease.

By that time, I had been unknowingly living with cystic fibrosis for five years.

My first hospitalization, soon before diagnosis. I had 61% lung function at this time after years of receiving no cystic fibrosis treatments or medication. After two weeks, it would go back to its childhood baseline (around 95%).

My first hospitalization, soon before diagnosis. I had 61% lung function at this time after years of receiving no cystic fibrosis treatments or medication. After two weeks, it would go back to its childhood baseline (around 95%).

Luckily, the universe had already blessed us all with my younger sister by then: Olivia was three-years-old, we tested her immediately, and she did not have CF. With her, chance was on my parents' side.

As far as we've (since) been able to trace it, no leaf in our family tree has ever fallen to CF. It's simply never showed up until me. Knowing that, why would my parents have ever thought to test themselves for the defective cystic fibrosis gene? Why CF over Huntington's disease, Tay-Sachs disease, or certain cancers? How were they supposed to have known?

They weren't.

They couldn't have.

You just. can't. know.

I mean, you "can." We have genetic testing for that exact reason (and it's pretty incredible, now!), but my point is that with literally thousands of potential DNA mutations existing and more being discovered every day, it would be crazy to expect yourself or anyone else to be able to predict the future. There's honestly just too much happening in those friggin cells, man.

Of course, this is not to say that vigilance isn't a virtue to be aimed for, especially when it comes to rearing children (says the childless 21-year-old with Cookie Crisp on her pajamas at three in the afternoon). As is often said, knowledge is power. When potential parents make the choice to take general genetic carrier screening tests, they lessen the number of not-so-fun surprises that can hurt their future family.

It's not about taking a couple's choices away - it's about laying all the choices out in front of them and then still allowing them to choose.

I'm flip-flopping a lot, I know. But that's only because this is a complicated, important, emotionally-saturated issue. So let me get off my medical soapbox and talk about how awesome my family is, now.

The month before I was diagnosed with cystic fibrosis, I went to the hospital. I was hospitalized again six years later, in the fifth grade. From the fifth grade until college, it was twice a year. (This is two weeks at a time, every time, by the way.) When I moved to college, I also switched to a hospital over two hours away from my parents. The first two years of college, I went in about every three months. And for the past year, I've been admitted to the hospital every month. Every single month.

The one person who's never missed a hospital stay?

My mom.

I had a lung infection and couldn't participate in this race, so my parents did it without me. They did it again the next year, too, arthritis and all.

I had a lung infection and couldn't participate in this race, so my parents did it without me. They did it again the next year, too, arthritis and all.

And she doesn't complain, either. She doesn't complain about the drive to visit me, and she doesn't complain about me calling her at 3:00 AM on a work night to cry about whether or not I'm going to live long enough to get married. No one in my family complains.

Not about the thousands of dollars I cost us in medical bills and insurance. Not about how long it's taking me to get my college degree. Not about the incessant coughing that keeps us all up at night.

When my sister was young and my parents would both come to the hospital to visit me, she wouldn't complain either. Instead, she would contentedly do what she had to do, either tagging along or sleeping over at a friend's house, all the while knowing our mutated little family was surviving another day.

Olivia, age 3

Olivia, age 3

When I was little, I assumed that my parents were nice to me because they felt guilty for making me sick. But it'd be completely ridiculous to think that parents of an adopted child with CF wouldn't go to the same immeasurable lengths to care for their child. Though my parents' defective, passed-on genes may weigh heavily on their consciences at times, I'm confident that remorse is not the source of their love for me.

The thing is, your family - whether assigned through birth or chosen through marriage, adoption, or friendship - is what you've got. You know. Ohana, Lilo, Stitch, all that crap. My family fights my cystic fibrosis with me because I'm not the one that has it: we all do. Once the initial shock of my diagnosis had subsided, the four of us put our heads down and got to work. We had funds to raise and physical therapy to do. Giddyup.

Post-diagnosis, there was no point in my mom and dad dwelling on the past. There was no point in them wondering what could've gone differently. If my parents had known that they were carriers of the CF gene before having children, there's a chance that my sister and I wouldn't exist right now, and, personally, I'm not a huge fan of that thought. Yes, I believe that getting oneself genetically tested is the responsible thing to do. But sometimes, the universe knows what it's doing.

As you continue with your day, ruminate on what your parents gave to you. Ruminate on what you could give to a child. And remember this:

You are not responsible for your mutations.

You are only responsible for what you do with them.

(Thanks for making me, Mom and Dad.)

hannah's heart to daddy copy.png