Getting Started

Tomorrow my husband and I are taking the first step toward something big. We’re seeing a fertility specialist in hopes of starting a family.

Right now it all feels surreal. See, no one – myself included – was particularly confident that I would ever have the opportunity to be a mother. When I was a baby myself I was diagnosed with Cystic Fibrosis, a genetic disease that affects around 70,000 people worldwide. Those affected produce thick, sticky mucus that causes lung infections, digestive problems, and (in nearly all men and many women) infertility. The median age of survival is in the late 30’s, though when I was diagnosed in the late 1980’s, it was lower. My doctors prepared my parents for a struggle that would likely end with my death before I reached adulthood.

But something different happened. There’s no cure for CF, but there are new treatments being developed every year. My parents did everything they could to keep me healthy, and for reasons not well understood by doctors at this time, some patients just tend to do much better than others. I’m one of the lucky ones who, despite having one of the most common and severe CF gene mutations, has been remarkably healthy. I’m now 26 with lung function that hovers between 85-90% of that of a person without CF.

Don’t get me wrong, I work hard at staying healthy: every day I do hours of nebulizers and physical therapy, and because my pancreas doesn’t produce the enzymes needed to digest food, I have to take replacement enzymes with every meal. I’m on a strict regimen and though I’m not perfect, I do everything in my power to stick with it.

At my most recent doctor’s appointment my doctor told me that if I continue to work hard to maintain my health, I could live a full lifespan – into my seventies and beyond.

This is huge. All my life I had lived under the shadow of the knowledge that my life would entail a slow decline in health leading to an early death – but the reality for me, and for many CF patients like me, is changing. There are exciting new treatments in development that could even help correct the cause of CF at the cellular level. I’m filled with so much hope.

I’ve also been fortunate enough to have a pretty wonderful life. I had a great childhood with loving parents. Despite an adolescence I would describe as “rocky” (and really, whose wasn’t?) I attended a fantastic university where I met the man who would become my husband. He and I both went on to earn graduate degrees before getting married last year, and we now live a comfortable life with our dogs/practice children, who we have successfully kept alive and healthy for multiple years in a row (=good sign). And now we have arrived at the point in our lives where we feel ready for a child.

I want to acknowledge that my CF has played a part in our decision to have kids now. I’m still in my mid-twenties, which in my circle of friends is on the cusp of maaaaaybe-too-young for babies. I’m at the age where some of my good friends are in serious relationships and just a handful have gotten married. Those very few of my friends who have kids probably wouldn’t describe them as “planned.” But here’s the thing: in all honesty, my health is probably not going to get better with time. I’m healthy now, and the longer I wait, the tougher pregnancy will be on my body. That’s true for all women, but especially for me. And if, god forbid, my health begins to decline in ways my doctors and I don’t expect it will, I want to have as many healthy years with my kids as possible. My husband and I are emotionally and financially ready to get the process started.

And I expect it will be a process. As I alluded earlier in this post, many women with CF are subfertile or infertile. On the other hand, there are women with CF (of all gene mutations) who get pregnant with no trouble at all. Unfortunately, there is alarmingly little research on the topic of female infertility in CFers – probably because we’re still a pretty new population. Remember, it hasn’t been until pretty recently (as in, the last decade or so) that there has been a sizeable population of women with CF who a) live to child-bearing age, and b) are healthy enough to carry a pregnancy to term. This is a testament to the fabulous success of new drugs and treatments entering the market – but that doesn’t mean it’s not a bit scary to be among the first few generations of CF mothers.*

One theory on our less-than-stellar fertility is that the same thick, sticky mucus that CFers produce in other parts of our bodies – lungs, digestive tract, etc. – is also present in the vagina, uterus, and fallopian tubes, making it difficult or impossible for sperm to survive and travel far enough to find the egg. While women without CF produce “eggwhite” cervical fluid (a very moist, stretchy fluid in which sperm can easily travel to the egg) at ovulation, many women with CF report producing only a sticky, tacky fluid. There may also be other issues at play – for example, anecdotal evidence from online communities of CF women trying to conceive seems to show a higher incidence of PCOS – but I haven’t found any actual scientific research on any of this. The most I can find online is studies showing that women with CF are, on the whole, not adversely affected by pregnancy in the long term. That’s great news, but doesn’t shed a lot of light on why we have trouble getting pregnant in the first place.

When it comes to my husband and I, we haven’t used any birth control for years. Though we haven’t been actively trying, we haven’t been not trying either. And nada. I’ve never been pregnant. And lately, my period – which has always run like clockwork every month since I was 13 – has started becoming more irregular. It’s making me nervous and reinforcing my desire to get this show on the road. I’m hoping our appointment with the fertility specialist tomorrow can shed some light on what’s going on, or at least how we can start moving forward.

In closing, I know that our decision is controversial. There is plenty of criticism to be found online from those who think it’s ethically wrong for women with chronic illnesses to have children. Some believe it is wrong to pass on the genes that cause disease, though in our case, it is impossible** for our child to have CF – my husband is not a carrier of CF, so while our baby would carry one copy of the defective gene (from me), he or she would not have the disease. Some people find it morally bankrupt to bring a child into the world when there is a higher-than-normal probability that he or she will lose a parent to illness. Trust me, I think about that a lot. No one wants their child to be in pain. But given my good prognosis and the encouragement of my doctors, I feel confident in what I’m doing. And in the end, my husband’s and my reproductive decisions are ours alone to make.

I’m starting this blog because I think about all of this every day. I’m a worrier and I overthink most everything. I don’t know what’s next, but I’m hopeful this blog will give me a space to think about all of it out loud. So here we go.

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*There are women with CF who have had kids as early as the 80’s and 90’s (and perhaps even earlier), but in my experience they are few and far between, and most have the less severe CF mutations, which means their health is typically better. Again, I say typically – there are exceptions!

**When I say impossible, I mean virtually impossible. My husband underwent DNA sequencing – the most thorough CF testing available – which tests for every known CF gene mutation. None were found in his DNA. So unless he carries an exceedingly rare CF mutation that is yet to be discovered, and he passes that mutation on to our child, our baby would not have CF. The chance of that happening is infinitesimally small. More info on carriers here.

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