Our (not so) Secret

Ahhh, marriage. As soon as the cake is eaten (not that I got any cake on that busy, wonderful night!), people feel compelled to ask you two immediate questions:

1) How’s married life?

2) When are you two going to have kids?

While the answer to the first question is pretty straightforward (anywhere from “great!” to “about the same; we’ve been together for five years, after all”), the answer to the second one is a little more complicated.

Erich and I found out on the eve of our wedding that we are both genetic carriers of the Cystic Fibrosis mutation. It’s a recessive gene, so if you’ll recall your Punnett Squares, that means that each of our children has a 25% chance of having the disease, and a 50% chance of being a carrier. Cystic Fibrosis is a disease that can be fairly mild or life-threatening. From the CF Foundation:

"Cystic fibrosis is an inherited chronic disease that affects the lungs and digestive system of about 30,000 children and adults in the United States (70,000 worldwide). A defective gene and its protein product cause the body to produce unusually thick, sticky mucus that:

· clogs the lungs and leads to life-threatening lung infections; and

· obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food.

In the 1950s, few children with cystic fibrosis lived to attend elementary school. Today, advances in research and medical treatments have further enhanced and extended life for children and adults with CF. Many people with the disease can now expect to live into their 30s and beyond."

People with this disease can suffer from a variety of ailments, including persistent coughing and lung infections, poor growth, and problems with digestion. My only personal experience with CF is from a girl in college, who left school to wait for a lung transplant. (I regret that I don’t know what ultimately happened to her.)

Testing for this mutation has been standard with some ob/gyn’s since the mid-90s, although I must give a shout out to my old 6^th grade BFF (you know who you are!), with whom I recently reconnected and who so openly shared her story about carrying the CF gene. Without her, I might never have asked for the test.

And that’s one thing I’m sure of – I’m glad I know. This is often where the controversy comes in. In our highly medical and technological world, it’s a very personal decision, unique to each couple, about how much to find out before conceiving or giving birth. Some people don’t believe in finding out about CF, or Down’s Syndrome or other genetic risks. And I support that decision. But for us, the choice is knowledge and thoughtful action.

I’m not embarrassed or ashamed to talk about this, which is why I’m posting it here. E and I have lots of decisions ahead of us. Our doctors and genetic counselors told us that we have several choices:

a) Natural Conception (oh, how I already hate that term!) and we chance it; hope for a healthy child and prepare for the possibility of Cystic Fibrosis.

b) Natural Conception and we test at about 11 weeks, then decide whether to terminate the pregnancy.

c) In vitro fertilization (IVF) with the aid of pre-implantation genetic diagnosis that allows us to screen embryos before they are implanted.

d) Adoption.

We would like to proceed with In Vitro Fertilization (IVF); my public health brain is very focused on prevention and I did a lot of reading that convinced me. However, our insurance won’t cover the cost of IVF (though they will cover the genetic work that goes along with it, oddly enough), because we’re technically not infertile. I’ve tried to convince them (as have others in my position) that paying for IVF is much cheaper than paying for lifelong health issues of a child with CF, but they haven’t budged yet. So we’re looking into financing and some other options. We’re at a bit of a standstill, which I hate, but I’m still hopeful.

I honestly didn’t expect having kids to be difficult. I think E and I are ready to be great parents, although our completely spoiled dog is an indication that we may have some issues with discipline!

So next time you see me, it’s totally ok to ask how it’s going. Just don’t ask my dog to do anything on command.

Photo courtesy of George Street Photography & Video