March 2019
Have you ever really thought about how long six-months is? I have. Six-months is equivalent to 182 days, 4,380 hours, or 262,800 minutes. In other words, an eternity when you’re waiting on your child’s test results. But, that’s how long we were told Rowan’s whole exome genetic sequencing would take, so the daunting countdown to May 29th began.
On March 20th, I received a notification saying Rowan had test results available in his MyChart account. Strange…he hadn’t had any testing done recently. Could it be we were lucky enough to get genetics results in four-months instead of six? I frantically pulled up his account only to discover they were in fact ready, but not viewable online. I immediately called Children’s Hospital and they informed me they could not give me his results either and said I should call his geneticist. I picked up the phone to call this “keeper of results,” and I thought my heart was going to beat out of my chest. After months of tests, and waiting, followed by more tests, and more waiting after hitting one dead-end after another, were we about to find the one-size-fits-all answer to all of Ro’s symptoms?
Ugh… Voicemail. Time for the emotions to settle in while I anxiously wait for the phone to ring. I was overwhelmed by feelings of fear, anticipation, excitement, and doubt–the returned phone call could only hold two possibilities; answers or disappointments.
Riiiinnngggggggg! The moment of truth. I will never forget the next words Rowan’s geneticist would say to me when I picked up the phone, “I think we’ve found an answer for all of your son’s symptoms!” The rest of our conversation was a blur as she went on to explain to me that Rowan has a genetic mutation of the ARID1B gene in chromosome 6. That it is a multi-systemic connective tissue disorder called Coffin-Siris Syndrome (CSS) and that it is extremely rare. I was haunted by the next statement she made, “there is no cure.” Being forced from my brief euphoric state of relief, confronted with an option that we had never considered, I started spewing question after question. Questions to which I still don’t have answers to due to the rarity of this condition.
We ended our conversation with a scheduled appointment for later that week. What we have since learned is CSS has a lot of unknowns past the age of childhood. The gene mutation Rowan has is classified as de novo, meaning neither Dereck nor I are carriers. Rowan also has a partial deletion of 2q22.1 and a variance in the COLQ sequence, which we learned Dereck is a carrier of. Whole exome sequencing included both my husband and I, and we discovered our chances of having a second child with CSS is less than 1%–making Ro quite literally 1 in a million. But what we don’t know, is how this is truly affecting Rowan, but I’ll come back to that.
If you’ve never had to experience a similar situation, it’s hard to describe the different emotions you go through in a short period of time–some feelings which are never far from the surface. Paralyzing fear, for all of the unknowns the future holds. Anticipation to see what course of treatment the geneticist determines, and prayers she will eventually have more answers. Excitement that we FINALLY have an answer. Disappointment that there is no treatment. No cure. And then there’s relief. At least we have a name to call this thing that tries relentlessly to define our son’s life.
Prior to the appointment with Rowan’s geneticist I went into research mode. First, I found THE ONLY specialist in the world that runs a clinic in Virginia specifically for Coffin-Siris Syndrome. Next, I found an online parent support group to connect with similar families. Then, I Googled and Googled and Googled some more until I amassed my mile-long list of questions. And yet, while I consumed myself in research, my husband did the opposite. He didn’t Google, not once–he couldn’t. Night after night went by and he still wasn’t even ready to talk about it with me. I knew my husband was desperately struggling to wrap his head around the news we had received, but I had no idea until much later that the impact was spilling into his ability to focus at work. He kept telling me he needed time to process and I just couldn’t understand what that meant. At the time, I had somehow selfishly convinced myself that talking about it constantly combined with tirelessly Googling I could somehow find a cure. For the first time in our relationship, we found ourselves at odds with one another…Everyone deals with a diagnosis differently and there is no right or wrong way. My intention in sharing our experience is not sympathy, but rather hope that someone reading this entry will relate and realize they are not alone in their emotions or situation.
The appointment with the geneticist came and went, and we were left with a five-page list of symptoms that accompany CSS. Some of the scariest things included were seizures and the possibility of cardiac and pulmonary issues. We were left with the answer “only time will tell” to the majority of our questions. We added three more specialists to our rotation of never-ending appointments. Our hopes of checking at least one specialist off our list was shattered, along with the assumption we were done with testing. We were provided with a silver lining when asked if Rowan’s information could be sent to a geneticist who specializes in CSS. We eagerly accepted and asked if it happened to be Dr. Samantha Vergano– you know, THE ONE geneticist from my research– and in fact it was! It just so happened that Rowan’s doctor had previously worked with her, and we have been in communication ever since. We plan to visit her sometime this fall.
Once the appointment was over and the marching orders were given the information overload started to sink in. I didn’t really know how or what I was supposed to feel…Did I feel? The best description of my emotional state in the following days was numb. Relief was still lingering, but fleeting. It’s hard to shake a doctor looking you in the eyes and saying, “It’s very rare, we don’t know what it looks like into adulthood or the life expectancy. However, from what we know of it, we do not believe it to be progressive.” It takes a toll on you–like getting the wind knocked out of you over and over again. You start worrying about things 15-20+ years from now. Will he graduate high school, go to college, move out, get married, have children? It seems odd to wonder if your toddler will have children of their own one day. But for Rowan, with his growing list of inherited traits, having children will not be a decision he can make lightly–or likely naturally.
These fears and random thoughts circle back to what we don’t still know about Rowan’s genetic results. The variance in the COLQ sequence was sent through a series of six different tests to determine whether or not it is disease causing. Three came back positive, three came back as him solely being a carrier. Because of this, Rowan is still undergoing testing to determine if he has myasthenia on top of CSS which unlike CSS, is known to be extremely progressive. So just when we thought that was off the table, we are back to the drawing board.
At the conclusion of this entry, I know so much time has passed since March. But, no matter how many times I tried to write down our experiences, I couldn’t bring myself to do it. Calling and repeating the same story to our closest friends and family is exhausting. The more we answered, “what’s the cure,” with, “there isn’t one,” the more reality sunk in. People didn’t ask this to be rude, but in today’s world of medical advances, it’s assumed there is some sort of medicine or therapy or treatment. And when there isn’t, when you’re the one answering that question, hearing it stung more each time. Rowan has an ever-growing laundry list of diagnoses that are each part of his syndrome. Specialist appointments are part of his normal routine. No parent wants that for their child, but God must have known with his resilience and stubbornness (he gets that honest from both of us) he could handle it. Recently, Rowan has be taking steps and standing independently. Something we were told not to expect until the age of four. So, I guess what I’m getting at is we are learning to stop worrying about the future because Rowan likes to prove everyone wrong and defy all the odds. We take things day by day and make sure we give Rowan all the tools he needs to succeed. I wanted to be a pediatric nurse and I found myself consistently praying for patience over the years… God gave me Rowan. He has a funny sense of humor, but I can’t imagine a day without this little boy.
