Musings of a Marfan Mom

Debbie & Lee’s Story


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.

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  1. Thank you for sharing! So much of what you mention from the first few years sounds so familiar to my 18yr old’s story.


  2. Thanks for sharing their story! I remember when we heard about Lee having this strange “Marfan thing” and being afraid because Lee didn’t look “sick” except for the big dent in his chest. How do you support your sister and nephew when you know nothing about this new syndrome?

    I am happy that Debbie and Lee have their Marfamily!! I hear about them all the time and met some of them at a conference in 2011.


  3. Thank you for sharing your story. I totally get “marfalling apart”. It goes with the territory. I’ve felt the last twenty years that I’m living in a 85 year old body. God bless you and your family.


  4. Your story is amazing. No one believed any of the things my husband was feeling as a child and now as an adult we’ve been from doctor to doctor and other than give him pain meds out the wazoo and a couple of failed surgeries on his back – they have done nothing and smashed our hope when he thought he had appts with people who were supposed to know what they’re talking about. Our frustration and pain is deep. We have four kids, so we know to watch for markers with them.


  5. I found out my daughter had Marfan Syndrome when she was three. She was the height of a 5 yr old child. She would go so close to the TV screen just to see. I constantly took her to the Pediatrician but she flat out told me there was nothing wrong with her and that I was a hypochondriac. I finally took her to see an optometrist and her tested her several times before telling me she had Marfan Syndrome. He booked an appointment with sick kids hospital right away. We have been in and out of there so often it feels like a second home. My daughter is going to be 8 yrs old soon and is 5’2. I understand the silver lining you mentioned, My hubby and I see it too. Life is so difficult for them at times, we need to find the joy and strength to keep them happy and strong.


  6. My son, who is now three, was officially diagnosed at 9 weeks with Marfan syndrome. We heard the same thing when he was born- look at the long fingers, gonna play the piano. We also had never heard of Marfan syndrome, and when we saw his geneticist at 6 weeks, she had seen pictures that our son’s orthopedist had sent her, and his geneticist had already set up an appt with a cardiologist that afternoon. Good thing she did- his aorta was already dilated to twice the size it should have been at 6 weeks of age! Luckily, we have been able to keep it under control with meds, and at his point are seeing his cardiologist every three months. The marfamily that we have become involved with in our state is amazing and it’s nice to have the support and views of other parents!!


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