Marfan Syndrome

Today, my son's father, Tim, took Eddie to Doernbecher's Children's Hospital for a Marfan Syndrome evaluation.

From the time he was born, Eddie has had long limbs, fingers, and toes. He had a traumatic birth - he had a low Apgar score because his umbilical cord was wrapped around his neck twice and they put him under oxygen for a couple of hours before we could see him. While we stayed in the hospital, it was hard to get him to eat; he slept a lot. He finally ate a little bit and then on his second day of life, I noticed blood in his diaper. He was bleeding from his rectum. He apparently lost a lot of blood (well, that's what they told me, but I was never told how much) and was transported to the Hartford Children's Medical Center (we were living in eastern Connecticut at the time) after they hooked him up to IV fluids. After a nightmarish few days and many evaluations and tests, the docs decided that Eddie had an "ischemic bowel", which means that his large intestine (or was it the small one? can't remember) was not getting oxygen. As near as the docs could figure, the lack of oxygen at birth caused his body to send what oxygen there was to essential organs and not to others, including his bowel. Some of the bowel tissue died and then when the milk/food passed through, it was like sloughing off a scab and caused bleeding. After 16 days in the NICU, we were able to bring him home. He had to go about 10 days without eating anything - his only nourishment was through the PIC-line. But when I was able to start nursing him again, he no longer had bloody stools, so the bowel had healed. It was a very scary time and we are just thankful that it all turned out okay.

But among the evaluations they conducted was one for Marfan Syndrome. Marfan Syndrome is characterized by a genetic mutation that affects the connective tissues in the body. Characteristics of someone with Marfan Syndrome include elongated long bones, lax ligaments, flat feet, potential heart problems, particularly with the valve in the aorta, problems with lens dislocation in the eyes, maybe problems with lungs collapsing, among other things.

At the time, they decided that Eddie didn't have Marfan Syndrome, but his doctor at Shriner's thought that he should be evaluated again (we've taken him to Shriner's because he walks on the inside of his feet so much that his physical therapist thought it might cause problems in his bone/muscle development in his feet; he was seeing a physical therapist to help strengthen his long muscles). The appointment was today.

The verdict? That Eddie does indeed have some of the Marfan characteristics. They want him to have the ophthalmologists at the Casey Eye Institute in Portland evaluate his lenses in his eyes (after I finished my undergrad, I worked at the Casey Eye Institute before it became the Casey Eye Institute and I still know folks there) and they also drew his blood to see if he has the genetic mutation. He had an echocardiogram, but they didn't see any problems there.

So, what does this mean for Eddie in practical terms? Generally, the scariest problem is the problem with the heart and so far, it's fine (although the muscle there can deteriorate, so it means that he should be monitored for the rest of his life). If he does have dislocated lenses in his eyes, I think he could get a lens replacement or maybe just get eyeglasses to help him should he have vision problems (the lens might be off-kilter, causing vision distortions and the glasses can help that). He will need to avoid strenuous, contact sports - he's not too interested in them anyway, so not a big deal there. He may need some adaptions at school, such as typing things instead of writing because of the lax ligaments in his fingers. Otherwise, he should be able to live a long, healthy life.

I'm still digesting the news. I'm okay, for the most part. It just means that there will have to be some follow-up and on-going check-ups to make sure the worst problems, such as the heart or lungs, don't become major. It's doable. It is what it is. He's okay. He's happy. He's doing well in school.

Can you tell I'm taking a deep breath?