If my memory serves me correctly, I believe I’ve cried a total of 3 times over the last 15-20 years. The first was when I attended a funeral for a co-worker of mine that I was close with in May of 2004. The second time was in October 2007, when I went to see my dying Uncle in the hospital, who only had a few hours to live. The third, and most recent occurrence, was December 30th, 2013 at a UPMC satellite office a few miles south of Pittsburgh. A week prior to this, my daughter Paige had been diagnosed with an extremely rare brain development disorder called lissencephaly, which literally means “smooth brain” (but we were not aware, at that point, of the extent of the condition). It’s a genetic disorder that causes a gene to mutate in utero at approximately the 12th week of pregnancy, which results in a lack of brain folds that lead to normal neurological development. Without boring you with all the minor details, it is unlikely we will be able to determine exactly why this gene mutated in the first place, but at this point, it really doesn’t matter. We obviously did a lot of research during the week we had before the actual neurology appointment on December 30th, but I don’t think any level of preparation could have prepared us for the news we were delivered by our neurologist that day.
During the appointment with our neurologist on the 30th, we learned Paige has a “severe” form of this disorder and that we should expect her to never walk, talk or function like a normal human being in general. She will likely deal with seizure or seizure-like symptoms for the rest of her life, and they can become more and more severe to the point of being fatal. There are lists a mile long of other side effects and issues that can arise in children diagnosed with this disorder, but to make a long story short, there wasn’t a shred of good news that came out of this appointment. I had prepared myself to hear bad news, but as I mentioned earlier, nothing could have prepared me for the “level” of bad news that we received that day. Suffice to say, December 30th, 2013 was far and away the worst day of my life.
We were fortunate to have my sister Meredith with us that day, who is about to graduate from medical school and helped us prepare a list of questions we needed to ask to get some clarity on this particular condition. She has been a wonderful advocate for us from the second we learned of this news, and I will always be thankful to her for being present with us on what ended up being a very, very difficult day.
The rest of the day was kind of a blur. Steph and I cried at the doctor’s office, and then basically spent the rest of the day at home crying and consoling each other. I think the hardest part for me, at the time, was seeing all these Christmas presents she had received, and realizing it’s very likely she’ll never be able to play with them. I hate to be dramatic, but it was almost like losing a child. The Paige we thought we had for the first 6 months of her life no longer existed. People have asked me what this day was like for Steph and I, and the best word I’ve been able to come up with is “devastating.”
Before I go any further, let me be clear about a couple things:
1) I am not ashamed about any of this. If anything, I think this situation will bring my entire family even closer than we already are. I love my daughter for who she is, and will cherish absolutely every second I have with her. And I don’t care at all about what she will or won’t be able to do one day. Steph and I have made it our life’s purpose to ensure that she gets all the therapy and treatment her little body can handle to ensure she has as fulfilling a life as possible. However, it is very difficult to keep all the negative thoughts about what could potentially happen out of my head. I have days where I break down when I realize the reality and the magnitude of this situation. But Steph and I are focused on what we can do to help Paige; not all the negatives that can arise as a result of a lissencephaly diagnosis.
2) I’m not writing this for pity. I don’t want anybody to feel sorry for me or my family. We’re not the first couple that’s ever dealt with a sick child before. We’ve spent a lot of time in Children’s Hospital over the past month, including time on the transplant wing (because that’s the only area they had space when my daughter needed to be admitted for a seizure issue). I think this really put things in perspective for me, as some of these kids are fighting for their lives on a daily basis. They and their accompanying parent/guardian are, in some cases, thousands of miles away from home and haven’t seen their families in months. Fortunately for us, Paige does not currently exhibit any of the major, and potentially fatal, side effects/issues normally associated with lissencephaly. And we live 20 minutes away from arguably the best children’s hospital in the world.
I guess the scariest part of this whole situation is all of the “unknowns.” There is a very wide spectrum of outcomes for children diagnosed with this disorder. Some kids, with less severe forms of liss (which I’m going to call it for short from now on), will achieve relatively normal levels of intelligence and physical development. Other children with more severe forms (like we were told my daughter has) will never be able to walk, talk, eat on their own or generally take care of themselves. Massive seizures can strike out of nowhere. A common cold can result in an extended hospital stay, or even death, due to respiratory issues that can arise with liss. And these things could happen tomorrow. Or 5 years down the road. Or an hour from now. We just don’t know, which is the scariest, and most unsettling part, of all of this.
I’ve never been much of a writer before, but in dealing with this tidal wave of emotions, thought it might be almost therapeutic for me to jot down my experience/thoughts/emotions with this particular issue. Ultimately, Steph and I are hopeful that Paige’s and our experience with liss will help another family/child dealing with this same issue at some point in the future. If there’s anything our doctors can derive from Paige that will help another child and their family, then we absolutely want to make that happen.
Given the events of the last 4 weeks, I think Steph and I are in as good of a place mentally as we can be with this. “Super-Mom,” as I like to call her, already has 3 different therapists (visual, occupational, and physical), coming to our house once a week for an hour each to work with Paige and accelerate her development as much as her brain will let her. We have doctors appointments scheduled months in advance, and are in the process of going to see a practice at Harvard’s medical school, who are one of the few “experts” in liss related treatment. We’ve been more than proactive in dealing with the other side effects of liss that Paige has been experiencing, and fortunately, think we’re in a pretty good place at the moment. And most importantly, her 2 year old (perfectly healthy, wild, and rambunctious) big brother absolutely adores her, and I know will do anything for her once he’s a little older and better understands the situation. We also have all the family support anyone could ask for.
Again, I don’t expect anyone to feel sorry for us. We are lucky to have Paige, and to be perfectly honest, things could certainly be a lot worse. While this is absolutely a life changing event, it’s not going to make our lives any worse. It may make them different, but not worse. Stephanie, Will, myself and our extended families will spend every waking moment ensuring that Paige has a rich and fulfilling life, regardless of what her limitations may be. And I’m optimistic that I can offer hope to a family reading this in the future, who may find themselves in a similar situation as Stephanie and I do today.
-Andrew Barbour 1/27/2014