An Apple a Day

Benjamin saw a new doctor today. I know, I said we'd sworn off doctoring for a while... But this was actually an appointment that had been made 6 or 7 months ago, at the height of our hysteria. I'm reporting this... I don't know why... Because it's what's going on in our life.

His new doctor is a specialist at the U of M's Pediatric Specialty Clinic. She is a well-known expert and came highly recommended from other parents and medical professionals. We liked her-- there was nothing not to like-- but there's no new news on Ben. How you feel about that, I guess, depends on your outlook on life, in general.

This doctor reviewed all the non-findings of all the other doctors. She offered her opinion that Benjamin has been "over-tested," but that it's good to know everything that has already been ruled out. She said she did not see the same characteristics the other geneticist did in Ben's facial features, so she would not have explored the same syndromes. However, she also reviewed, in detail, Benjamin's unique characteristics, pointing out, kindly, "This is something. This is something."

For anyone who's forgotten, or lost track, here's where we are with Benjamin: He is a perfectly healthy 18-month-old boy. From a cognitive standpoint, he is developing normally. From a gross motor skills perspective, he is behind, but continues to make steady progress. He is a little on the short side, but well within a normal range. He has a very big head, but continues to hold at a steady growth pattern. He went through a period of very poor weight gain, but has gained weight considerably on a higher calorie diet.

The big head is his major distinctive feature, but it is not the only one. He also has unusual, deep creases in his hands and dimples at his wrists; these suggest shortened bones and/or abnormal skeletal alignment. He has small, but "thick," hands and especially feet; this may show evidence of extra fluid collected in his extremities, from before he was born, and it may improve over time. He has deep-set eyes, low-set ears, and small facial features; this is likely nothing, but appears more unusual because of his prominent forehead. He has a high, arched palate and a cross bite (misaligned jaw.) All these little things, teamed with the poor weight gain and the big head, suggest some genetic anomaly. But WHAT?

Well, we don't know any more today... and we won't... at least for a while. The doctor said there were more blood tests that could be done, but they likely would not tell us anything, so she considered it unnecessary torture for Ben, and we all decided against it. She said there is value in observation over time, since all people grow, develop, and change-- especially kids. She wants to see him back in a year.

The doctor said it is unlikely Benjamin has a major medical condition that could go undetected for so long, with all the tests he's had. That made me feel a little better. She also said she can't make us keep coming back... But that is her recommendation. I asked her how often genetic syndromes actually do get diagnosed. She said, 10-15% of the time, she can tell as soon as she walks in the room. Another 15% of the time, a condition is eventually diagnosed through testing and time... The other 70-75% (!!!) of the time, we never know.

So, I bring this full circle: It's about perspective. When we left the clinic, I was making an appointment for 2009 and wishing we had never gone. Todd was showing Ben the fish tank and bouncing down the hall.

Mommy's view: There's something wrong with my son. We don't know what. We may never know what. I hate seeing doctors who remind me of the unknowns.

Daddy's view: My son is perfect! The doctor said he was beautiful, and reaffirmed that no one can find anything wrong with him. I love seeing doctors who remind me I'm right.