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

A pox on your high expectations!

It's another lovely spring day in Chicago, as I sit at my desk at home with the window open - creating some lovely basking light for my cat and dog (who only get along when they're both napping). I have the day off work today, but I'm on my second conference call of the day. Work/life separation is not my strong suit.

I've had a thrilling bout of inspiration -and resulting enthusiasm for work - on the master's thesis. I knew it would come as soon as I delved into the material. I'm working on the intro and background sections, so it's not like I'm doing groundbreaking policy thinking here, but the history of vaccination policy is a rich one. My favorite anecdote so far:

Edward Jenner, the Brit given credit for the first vaccination (by improving on a practice that Asians had been doing for a century, mind you), had his "ah ha!" moment, as the story goes, when listening to milkmaids chattering. "I shall never have an ugly pockmarked face," one 'maid boasts. "I shall never have smallpox for I have had cowpox."1

I love this story for a couple reasons:

1. Of course he got the idea from women who had used life experience to make deductions about complicated immunology while milking cows!
2. Having an ugly face is the best possible scenario with smallpox. Hemorrhaging and death would be (arguably) the worst.

Anyway, there's lots more where this came from, and it just gets juicier with the anti-vaccination movement...and I haven't even gotten to the HPV vaccine! An upcoming article for review: "Don't 'shot' my daughter!" Yep, things get pretty dramatic when it comes to sexually transmitted infections and sixth graders. Bring it!

In other news, I'm sort of shocked that I'm getting married in 89 days. We've had such a long engagement! It feels funny to say that it has sneaked up on me when we've been 'betrothed' since Christmas of 2008, but in a way it has. I keep waiting for that elusive bride gene to come into my life and add some fervor! As it is, I have a place to wed, a "minister" to perform it, an open bar and lots of good food, and a photographer and DJ booked. I don't feel any more compelled to design centerpieces or emboss things than I did a year ago!

One traditional bridezilla aspect I do wish I had is the motivation to "look my best" on the big day (read: get skinny). I've worked hard to keep running in my life since I started, and E and I eat healthfully, but as the date loomed I always thought I'd get some kind of panicked motivation to eat only celery or otherwise drastically alter my body. Nope. I mean, I do vaguely desire to look stunning that day, but I can't muster the commitment to that ideal. You'd think the three month mark, along with the fact that I have a dear friend making the dress and don't have to worry about alterations, would push me into extreme makeover territory! I'll work on it. Or I'll take the dog for another long walk and just continue to be happy, healthy, and loved.

1 Stern, A & Markel, H. "The History of Vaccines and Immunization: Familiar Patterns, New Challenges." Health Affairs, 24, 611-621.

Image courtesy of Wired.com

Not too shabby, 2010

So far, 2010 has been good to me. A few updates:

• I found a new thesis advisor! She's from Northwestern's department of preventive medicine, and not only is she wicked smart, but she's ORGANIZED and she won't take any slacking off on my part. This is a heavenly nuisance! Even better, she doesn't think I should let this be "just a paper," so she's encouraging me to work with a local organization, like my beloved Howard Brown Health Center perhaps, to get them something out of this -- a white paper or a presentation. I'm excited.

• I've achieved a modicum of (very local) fame. I'm the featured profile in our department's quarterly newsletter. It's nice to get more use out of our Save the Date photo! With poor E cropped out, of course.

• Speaking of which, we're ready to send the Save the Dates! Although I felt like I was stifling E's creativity somewhat, I insisted that if we were sending something out on paper, it had to be a single postcard, without an envelope. I just hate the idea of so much waste. I I found an awesome company that will do the whole mailing (except Canada - thwarted again!) on recycled postcard paper.

• Our Penny is smart and delightful. She's housebroken with only the rare "mistake," and we're taking her for training in a couple weeks. She can already come, sit, and sort of fetch. I hope she never gets too big for shoulder-snuggling.

Here's hoping your 2010 has been as nice as mine.