On Marcus, Cystic Fibrosis, and Trying to Plan for the Future

So my son was born on Tuesday! Marcus is officially in the world and our family is one person richer. He also likely has cystic fibrosis.



Our current motto

The reason we think that he does is because earlier on in the pregnancy, my wife and I received genetic testing that indicated that both of us carried a gene that leads to the condition. We hadn't had that testing done when Sera was born, so it was a complete surprise to us. Neither of us knows of any cystic fibrosis tendencies in either of our families, but the disease is fairly rare, so I guess that is not surprising.

Cystic fibrosis is basically the unfortunate result of evolution screwing things up in classic style. The genes associated with the disease control a particular protein that is associated with mucus and secretions. Most of the mutations involved make it so that protein just doesn't get made or doesn't get put in the right place. That leads to abnormal mucus development throughout the body, including the lungs, intestinal tract, and reproductive system.


That development results in increased amounts of respiratory infections due to pools of mucus gathering in the lungs, malnutrition since the mucus near the pancreas keep enzymes from helping in digestion, GI blockages due to extra-thick mucus in the intestines and infertility due to blocked channels in the reproductive system. It used to result in frequent deaths in childhood due to these combined problems, but these days they have managed to mitigate a lot of the damage due to early treatment and effective options in terms of transplants, enzyme injections, and respiratory therapy. As a genetic disease, though, it isn't curable. At least, not unless somebody manages to design an effective retrovirus-based gene therapy to counteract the nonfunctional genes.

Marcus ended up having a GI blockage right off the bat, which meant that within twenty four hours of being born, he went through surgery. He's doing very well and is a strong, healthy little guy with a huge chin and a scowl to brag about, but recovery time from the surgery is going to be about eight weeks. The surgery didn't entirely solve the situation, because the bowl had actually been perforated due to the extra sticky crud in his intestinal tract. That meant the doctors had to more or less install a couple of tubes in his stomach to allow them to rehabilitate his lower bowels so that when he's recovered, they can reattach his stomach and upper intestinal tract to his lower intestines again. After that, it's hopefully just another eight weeks in the NICU and then he can come home.

So obviously things have been a little difficult lately. My bosses at work have been extremely understanding, and coworkers, friends, and family have all been extremely supportive. We're still kind of trying to figure out how to balance our lives over the next sixteen weeks; the hospital where Marcus is staying is about an hour and a half away, so seeing him, taking care of Sera, and continuing to work/go to graduate school/write is going to be an interesting challenge. It's tempting to pretty much attempt to live at the hospital, but my wife needs to recuperate from giving birth (the little guy went from water breaking to delivery in two hours, which is absolutely crazy) and life kind of needs to go on despite the drama. In the long term, it's going to be a question of how to figure out a pattern of life that allows me to be a part of my son's life while trying to secure our future as a family at the same time. I doubt it will be easy, but we will just need to get through it.

To everyone who has already expressed their support, we appreciate everything you are doing for us. It might get a little frustrating, because at the moment we are mostly just playing a waiting game. We won't know a lot of details about how fast recovery will be until a little time has gone by--in fact, the tests coming back confirming CF as a diagnosis aren't official yet, we're just basing it off the genetics and the type of GI block he experienced, which is typical of CF--and a lot of what we are doing right now is just trying to be there for the little guy. Your prayers and well-wishing is very much appreciated, and even if we might be a little reclusive, we really are grateful for everything you've said and done. It is just taking us a little while to process things emotionally, and since emotions are not really my strong suit, I hope that you'll be patient with me.

In terms of writing, my schedule's been kind of up in the air since Tuesday. I'm not sure if my previous plans for writing in 2014 are going to work out, but we will see. Eagle and Broken Halo are both still going to be published this year, however. The only thing we are waiting on is cover art for Eagle to be completed, and the artist we are working with on that is already doing a great job. I think I can be confident in saying that both will be up soon.

In any case, I hope that everyone is doing well out there. See you around!