I’m on vacation at the beach(!), so while I’m lazing about my days getting a tan, a couple of readers have submitted guest posts. Today’s is written by a friend of mine, Mary. Mary is the CEO of a small company in New England. Her children are now 11 and 16.
Discovering Marfan
Charlie was six months old when we brought him home from Guatemala. He was sweet, happy and very well adjusted which gave us such great relief. We were finally all together and starting our lives as a family. He was a total lovie.
The first day back we brought him to our pediatrician, a man who had seen us through a number of serious health scares with our daughter. He poked, prodded, gave him a few vaccinations, and we were on our way.
Charlie was a long baby with beautiful and elegant fingers and toes. In Guatemala they had called him “regal,” and I knew why. And he was a jumper. He was never happier than when he was sitting in his jolly jumper bouncing. He quickly earned the nickname “Tigger”. I did notice that he was picking up his Cheerios with his knuckles instead of using a pincer motion. I knew that his fingers were double jointed, so I started looking on-line for ways to help him strengthen his fingers.
Within a month of us going home we were off to an out-of-town wedding. The aunt babysitting him told us she would be taking him for her daily power walk which she did with her neighbor who happened to be a pediatrician. Was there anything I wanted to ask her? I asked her to find out about double jointed fingers. One month later my in-laws called and said that the pediatrician had mention something called Marfan syndrome. A what? A syndrome? We looked it up online, found www.marfan.org and our lives changed. Charlie was positive for every symptom that was visible. Pectus – check. Long fingers and toes – check. Longer (taller) than normal – check. Double jointed – check. Possible life-threatening heart defect – oh, God. We started in unmercifully on the inlaws. You waited one month? How could you not tell us right away? Why didn’t the aunt tell us? Don’t ever keep anything from us regarding our children!!!
The next day I was on the phone with the National Marfan Foundation (NMF) and I spoke with Karen Wolk, whom I will never forget. There were lots and lots of things I would never forget on this journey and Karen was the first of many wonderful experts I would connect with. I had butterflies in my stomach when I called our pediatrician, who very gently told me not to worry, after all, Marfan was very, very rare. But the list haunted me, and I realized I need to follow up some how even if it meant finding another doctor. But how and who? I could imagine the response, “You’re worried because of a check list on a web site?”
As it turned out, I didn’t have to. He called back in about two weeks to tell us that he wanted Charlie to have an echo cardiogram at our local pediatric hospital that week and he had made an appointment for us. He had actually listened to me and looked it up! Scared but relieved that our doctor supported us, we headed to the hospital. They anesthetized Charlie and his dad and I sat at the bottom of the bed watching the screen, staring at the picture of his little heart pumping away and wondering what the technician’s educated eye was seeing.
The doctor’s assistant came in and told us the news: Charlie had an enlarged aortic root and a mitral valve prolapse, both distinctive signs of Marfan syndrome. It was likely that open heart surgery was in his future at some point. Possibly in the next 5 years or possibly not until he was an adult.
As soon as I was home, I was on the internet again and the numbness went deeper into my soul. Dislocated lenses, scoliosis, collapsed lungs, possible surgery on his ribs to make room for his heart, the list of worries continued. I was in shock and I let myself just be numb for a few days, and then jumped in.
There is no expert in the world like the mother of an afflicted child. I was back on the phone with the NMF, Karen wisely told me that Charlie might have none, some, or all of the complications and to take each day and each issue step by step. Bird by bird, as those familiar with Annie Lamott will recognize.
I started asking questions and learning. Could a baby see an ophthalmologist? Would he need physical therapy? Occupational therapy? There were doctors I had never even heard of before such as physiatrists and behavioral optometrists. I developed a mantra as I was setting up appointments 6 months out and learning terms that gave me headaches: “advocate don’t alienate.” I was ready to jump at everyone I spoke to, “Explain this to me!”, “I need an appointment tomorrow!” “This is my son!” But I realized I would likely be dealing with these doctors and nurses for years and it wouldn’t help if when they heard Charlie’s name they immediately thought of his crazed mother.
I contacted the local support group for children zero to three years, and they came in and did assessments. OTs and PTs followed, all more lovely and skilled than I could ever have wished for. I learned what a Z score was. I learned what the valsalva maneuver was. And I learned how many children ended up needing surgery and even more adults. I learned how lucky I was that he had been diagnosed.
It has been a long journey, but Charlie is doing well. He’s 11 now and had spinal surgery last summer to fuse C1 and C2 vertebrae. That is actually more of a Loeys-Dietz syndrome issue, but that is another story. His heart is in good shape and he is an active, happy boy. I don’t know what the future holds, but I do know that between the staff and members of the NMF and the incredible medical team I’ve been able to build for him, we’ll face it together.
