Musings of a Marfan Mom

This is a post I’ve been working on for a couple of weeks. I don’t think I’ll ever be able to make it just right. I can’t even think of a catchy way to start it off.

We had Baby J tested for Marfan when he was two days old and got the results back a few days before Christmas. He has Marfan syndrome.

Neither Mark nor I were surprised. The first thing I noticed about our son in the OR was his beautiful long fingers, then later on his large feet and long legs (all symptoms of the syndrome).

How I feel about this is complicated. And because it’s complicated, my gut reaction was to not tell anyone. There were two things I didn’t want to hear: “This is your fault” and “I’m so sorry!” I think the first is fairly obvious. I mean, clearly Mark didn’t pass on the gene. I know it was me. However, assigning blame makes it seem like was a purposeful act, which it most certainly was not. Also, I don’t feel at all guilty about J’s diagnosis.

The second is harder to explain. I mean, yes, not having Marfan syndrome is preferable to having it. And yes, I feel sad when I think about some of the things that J will most likely go through, like surgery (quite possibly multiple; I’ve had 5 surgeries and 2 other procedures myself, not counting my c-sections). But, when I look at Marfan through the lens of my own life I’ve commented repeatedly that I am not sorry that I have it. There are days it makes me sad and days it makes me angry, but as I’ve written before I have found a lot of beauty in it and I believe I am exactly the way God intended me to be.

I feel like I’ve had to fight against the idea that because I have this illness I am “less than.” Hearing people say they are sorry for Baby J’s diagnosis (or even worse, if they were to follow it up with a declaration of how terrible it is or a guess at how we must feel) makes me feel as though they are making a statement about the quality of my own life, even if they don’t intend it that way.

What I realized though, was that hiding J’s diagnosis sent the wrong message: the idea that we were embarrassed or ashamed of him having Marfan. That couldn’t be farther from the truth!

Everyday I am amazed at my baby’s looong toes (his feet didn’t fit the 0-3 month footie PJs at 4 weeks!) and his lack of a chin (a feature I hate in myself but is endearing in him). I kind of take pride in those physical characteristics. I have long thought that children with Marfan are so beautiful and am always telling the teens how advantageous some of our unique features are. That is not to downplay the seriousness of the disorder, but Mark and I are making a concentrated effort to focus on the positives, so right now one of my positives is that my son looks like me…at least a little bit!

So, what does having Marfan mean for Baby J? To be honest, we don’t know. J might be affected like me, with mostly just skeletal & pain issues. He could also be more severely affected, with more eye and heart problems. Only time is going to tell. He has his first echocardiogram this week (well, technically his 2nd since he had one at 22 weeks gestation), then an eye exam in mid-February to make sure his lenses haven’t dislocated. I don’t expect us needing to think much about his diagnosis for a few years yet.

I’m the one who plans everything 5, 10, 20 years in advance though, so I’ll admit that as soon as my doctor gave me the news, I started considering J’s future. When will we start him on medication? How will we handle PE? Will he come to love the Marfamily and want to be involved, or will he resent it and wish that Mark and I had used reproductive technology to have a baby who didn’t have Marfan instead?

Right now, I don’t know the answers to these questions. I can’t know them. There are a few things I DO know though. I know that we will make sure J has access to the best doctors we can find. I know that Mark and I love him to pieces and will be the very best parents for him that we can. And I know that while Marfan will be a part of who J is, it will not define him.