It's been said that when there is an elephant in the room, you should introduce it. For those of you reading my blog, you know that I have mentioned Noonan Syndrome and I am sure many of you have no idea what I am talking about. Since I wanted you to get to know us first, I have chosen to delay telling our story. But I think it's time.
When Henry was six weeks old, we found out that he has Pulmonary Valvular Stenosis (PVS). We came home from the Cardiologist and as I tried to explain to my mom what was wrong with her grandson, I realized that I couldn't. When the doctor spoke with Michael and I, all I heard was, "Congenital heart defect," and after that it just seemed like static in my ears. So I turned to my friend, Google for assistance. As I attempted to sort through reliable medical websites, I noticed that "Noonan Syndrome" was often listed as a factor regarding PVS. Curiosity got the best of me and I clicked a link, since I had never heard of Noonan Syndrome. What I began to read was a bit overwhelming.
- Delayed puberty (I got my period at 17, and went from a B to a C cup, naturally, at 21.)
- Short stature (I'm barely 5'.)
- Large, widely spaced eyes (Umm... have you met me?)
As the list went on and as I read it aloud, I began to have an odd feeling in my stomach. When I finished, my mom and I spoke at the same time.
Mom: "That sounds like you!"
Me: "This sounds like me!"
I became convinced that I had this genetic condition and had passed it on to Henry and possibly to Jack. My husband was skeptical and tried to tell me that I was crazy. But after I made him read the information that I had printed, even he became nervous. In August of 2008, the boys had a joint doctor's visit - Jack for his three year check-up and Henry for his six month. It was at that visit that we found out that Jackson had dropped off of the height chart. I brought up Noonan's to the pediatrician. I'll never forget the look on her face. It wasn't doubt. It was as if she, too, had a moment of clarity. She set up the blood work for the boys. Genetic testing takes five weeks. It was a L-O-N-G five weeks. The call finally came in one September morning.
"Mrs. Corbin, there was a mix up at the lab. You're going to have to bring the boys back in, to be retested."
Nice.
Fast forward ANOTHER five weeks. I still remember it; I was in the kitchen making fettuccine alfredo. Michael was on his way home from work and it was almost 6:00pm. The phone rang.
"Mrs. Corbin, how are you? Sorry to call at this time. Are you in the middle of dinner? Oh, what are you making? That sounds good!"
(Let me give you all a bit of information that I have learned from experience. When a doctor calls you and makes small talk, it's bad news. Good news, they'll tell you right away. Bad news, they like to butter you up.)
On that night, October 23, 2008, we learned that Jackson and Henry, both, have a mutation in the PTPN11 gene - Noonan Syndrome.
So... yeah, thank God for Google.
I went for my blood work the next day. Five weeks later was the Monday after Thanksgiving and the doctor called.
"Mrs. Corbin, how was your holiday? Did you cook, or did you visit relatives?"
Uh-oh.
That was probably the weirdest phone call I had ever received. It's not every day that you find out at age 30, that you have a genetic condition. A genetic condition that is defined by subnormal development and abnormal facial features. I hung up and spent forty-five minutes staring at myself in the mirror, because all of a sudden, I looked like a different person. Geez, after that phone call, I became a different person. This was all supposed to be a hunch - a crazy Internet hunch. And now my boys and myself had a medical condition that we didn't know anything about. I called my mom.
"Mom, I have the gene mutation, too. I have Noonan Syndrome. It was me that gave it to the boys. All three of us have to go to a geneticist at Johns Hopkins, as soon as possible, to be evaluated. I ..."
"--Anna," My mom interrupted, sobbing. "I need to get off the phone for a minute. I just found out that my child has Noonan Syndrome and this is a little hard for me, too."
That moment was when it all became very real. This was really happening and it was going to change our lives.
After going to the geneticist, we got a better handle of what we are dealing with. More testing needed to be done, because Noonan's affects the development of everything - including organs. As it turns out, the boys have numerous health issues as a result of NS. Some that could potentially be life threatening and others that are not as serious.
Emotionally, it was difficult at first. It was hard enough learning at 30 that I've had a genetic condition since birth. But, the fact that I had passed it on to my children? That was the worst feeling in the world. I had a rough couple of months.
I felt sad that this was happening to our family.
I felt angry at all of the kids on the playground when I was a child, who had ever said, "Hey, Shorty - what's wrong with you? Why are you so short? Are you a midget?"
I felt guilty because although I have the same condition, I have had a relatively healthy life and yet my boys have so many problems.
Slowly, as I saw how brave my boys are and how they just eased into the lifestyle of children with NS, my bad feelings faded. Noonan Syndrome is something we have, not who we are. I have not had all of the required testing, to determine if I have any of the health issues relating to Noonan Syndrome. I have chosen to focus on the boys, first. They have a great team of doctors at Johns Hopkins, from Cardiology, Hematology, Genetics, and Endocrinology. They are in good hands. We are learning how to deal with all the issues that they have and all of the issues that they may develop.
I am much more at peace with our situation. God doesn't give you anything that you can't handle. (He must think I am something else!) It's been a year and a half since our diagnosis. I tease my husband, because he is the minority in our house. I have a spontaneous mutation of the PTPN11 gene and had a 50% chance of passing it on to my children. Instead, both of my children inherited it. With Michael's love and my mom's guidance, I have stopped looking at myself as "damaged goods" - which is what I called myself for awhile. I know that these things happen, and they happen for a reason. My boys are awesome. I'm not sure if they know that they have NS or not, but they definitely know that they go to the doctor a lot. And it doesn't even faze them. The Noonan Syndrome Support Group has been wonderful. I can't even begin to describe the comfort of knowing that you are not alone.
My husband and I discovered something, after contacting other families affected by Noonan's, seeing photos of their children, and looking at our boys. Each case of NS is different, but thing is clear: Noonan Syndrome makes for some beautiful babies! Seriously, BEAUTIFUL babies. We can't believe that medical journals would say that these children have "abnormal facial features." In fact, we often wonder, if our boys didn't have Noonan's would they have been as cute??
So, that is our elephant. I am the mother in a family of four and three of us have a rare genetic condition. But I am okay and my boys are okay. If and when the day comes when one of us is not okay, we will be prepared to deal with it. For now, my job is to keep my boys as happy and as healthy as possible. And to make sure they never feel insecure or "different." Fortunately for them, they will always have each other and myself to turn to, as they deal with the many issues that this condition presents. And in our house, at least, "different" happens to be the norm!
We have a ritual that we perform every morning. The boys get dressed, and then look in the mirror, and I say, "Well, how do you look?" Jackson says, "Handsome!" and Henry says, "Pretty!" and I say, "Absolutely." As I watch them walk, confidently, out of their room, I know that they believe what they have said. They believe it, because it's true. They are two pretty handsome boys and they are amazing.
