I am kind of dreading, and kind of looking forward to, the events of this weekend. Beginning Thursday evening, we will be attending the Noonan Syndrome Conference 2011 in Chicago.
Our son, Carter, was diagnosed with Noonan Syndrome when he was about 24 hours old. In the immediate hours after Carter was born, we were blissfully ignorant that anything was wrong with Carter. It wasn't until the pediatrician did her rounds that morning that Carter's heart murmur was first detected. I was all by myself when my sweet little baby was whisked away because something was wrong with his heart. (Casey had stepped out to get breakfast or something). You can imagine my shock. We quickly learned after his echo-cardiogram that he had pulmonary stenosis.
With this diagnosis in hand, the geneticist was called. She was a gracious, helpful and kind woman, but all I could hear ringing in my ears were words like "dysmorphic features, webbed neck, low-set ears, concave sternum" and "Noonan Syndrome". She warned us against researching this on the internet just yet. She wisely counseled us to just focus on our baby and not go wild with worry.
Carter looked perfect to me. This mama saw nothing dysmorphic about her baby.
We successfully waited until we got home, and then Casey hopped online. I couldn't look at all the information just yet. All I needed to know was, would Carter die from this and would it be so noticeable that he would be made fun of by other kids? Sweet relief passed over me as Casey relayed that he could have a normal life span, but he could not reassure me that he wouldn't be made fun of.
We attended our first conference when Carter was nine months old. The conference was a swirling blend of emotions for me. Carter had not yet been touched by many of the issues others were discussing. Would Carter have those same scary symptoms some day, or was he "milder"? We met adults who never even knew they had the NS until they were adults- their lives relatively untouched by the syndrome. There were teachers, a doctor and business owners all with NS. There were others to whom the more challenging aspects of NS had not been as kind.
Which camp would Carter fall into?
At the conference, we were able to meet Dr. Noonan, the amazing cardiologist who first identified Noonan Syndrome as a distinct syndrome (it had formerly been confused with Turner Syndrome). She actually held Carter and confirmed what we already knew, Carter had Noonan Syndrome. I knew it, but it still hurt.
Today, I embrace the challenge, but it still knocks the wind out of me sometimes.
Carter is six now. He has had six heart surgeries. He has a pacemaker. He has seizures. He wears SMOs. He has physical therapy at school and extra after school. He has occupational therapy and speech therapy. He has a bleeding disorder. He has a teacher's aide. He wears glasses and hearing aids. He is quite short for his age. He has life-threatening food allergies. He didn't start walking until he was three (anyone remember how adorable he was with his walker? how utterly proud he was? how about before that when he scooted everywhere on his bum? adorable!). He has hyper cardiomyopathy and arrhythmia issues. He looks more like the kids on the Noonan Syndrome website than his own family.
Having Noonan Syndrome has been no blip on Carter's radar.
To this year's conference, I go as a much wiser mom. I am wiser because of the experiences I have gained raising Carter. Medical experiences- oh yes! I know more about cardiology than I ever, ever wanted to know. I have also gained a much deeper, more compelling, wisdom. You see, I know what a miracle looks like. I know what sacrificial love feels like. I know the brokenness of not being able to fix my baby. I know the awe of watching a doctor save my child's life. I know the gratitude I have for my friends who saved my sanity, my husband who held my head up, and my family who called out to God when I did not have the words.
I will go and I will learn new things that will help me parent Carter better. I will share my stories with parents who get it. I will cry because it hurts to have to be there. I will laugh with these sweet children because they are laughing despite it all. I will be inspired by the adults who didn't give up. I will hug a doctor because of the sacrifice she makes for our children.
And, I will return home as grateful as ever for my boy, because he is Carter, and he is perfect to me.