In honor of Marfan awareness month, Debbie is sharing the story of her son Lee’s diagnosis. Debbie and I met a few years ago on NMF Connect. I was excited when I was able to meet the two of them in person at the 2011 Marfan conference, where Lee was in the teen program with me. Reading this post, a lot of it reminds me of my own story. How many of you mothers have heard your child described similarly? Thank you, Debbie, for sharing your story!

When my son was born the nurse said “look at his long fingers, looks like you have a piano player”. She also commented on his full head of hair and the cowlick that went right across his forehead. I heard a lot of things but no one mentioned that dent in his chest. It was like the elephant in the room. When I asked I was told it was “normal” and it would “pop” out on it’s own.

Lee was 22 ½ inches long when he was born and weighed a healthy 8lbs 6oz. He was in the 90 percentile for height and weight until he was a year old, then he was in the 30th. He hit all his milestones on time, if anything he seemed to be a bit of a klutz. When he started to walk he would fall, a lot. More than other babies it seemed to me. I can’t remember how many times he had to have stitches in his chin before he was 3. He was 6 months old when we discovered that his pinky fingers had contractures, they were released just before he turned one. His flexibility kind of got to me at times. I remember trying to put shoes on him once (he hated shoes) and he flipped over on his tummy but his foot was still pointing straight up. Score one for Lee. He also had pneumonia a couple of times before he turned 2. There were clues there but not enough.

When Lee was almost 2 everything changed. He was roughhousing with his dad when his lips started to turn blue. His dad rushed him to the hospital where the doctor asked how long he’d had the heart murmur for. The perfect answer would have been “just this minute”. We were living in a rather small town at the time so the doctor referred Lee to a paediatrician in the big city. The doctor gave Lee a good going over and then asked me how I would feel if my son had a syndrome. I answered that it would depend on the syndrome. He left the room and returned with a book and showed us a chapter about Marfan Syndrome. That was the first time I’d ever heard of it. He then proceeded to get his colleague and showed him Lee. He kept picking Lee up and letting him slide through his hands to show how flexible Lee’s shoulders were. I told that was enough I got it. Then he explained something about Marfan. How it was really nothing, that Lee
would be really tall, play professional basketball and make loads of money. Ask me if we went back to him! Our family doctor apologized for not recognizing the signs but Lee’s murmur couldn’t be heard up until that point.

The next stop was the cardiologist. I can’t even begin to explain how wonderful they were. They explained Marfan Syndrome, answered all of our questions and set up appointments with orthopaedics and pulmonary. They continued to be wonderful support for the next 16 yrs. (I don’t think I will ever get over Lee having to go to the big boy doctor).

Lee has had two surgeries, the last being the Nuss Procedure to repair his pectus excavatum. It was very painful and Lee says if given the choice he wouldn’t do it again. But it did increase his lung capacity and took some pressure off of his heart. His aorta remains stable at 3.9. He recently was diagnosed with dural ectasia, has wicked migraines and his knees sound like they belong to someone much older then him. Lee says in Marfyears his joints are 65. I just tell him he’s Marfalling apart.

I have to say a positive of Marfan (if there is such a thing) is our Marfamily. Through the heartache and miracles we all “know”. I hope that makes sense, it’s difficult to explain. We have lived with this for so long now that you have to find the humour, that silver lining. It’s gotten harder the last little while again, listening to his knees pop and creak as he walks, the back aches and headaches. He doesn’t complain too much. He’s pretty tough, and I love him to pieces even when he uses my head to lean on.