The Day the World Came Crashing Down

From the Sotos syndrome Web site:

“Many genetic conditions are obvious at birth, and a clear-cut diagnosis can be made with specialized laboratory tests. Sotos Syndrome is not among them. Rather, the diagnosis of Sotos Syndrome is frequently made months or even years following the birth of a child, after a slow process of wondering whether anything is amiss, listening to vague reassurances or equally vague gloomy projections, cherishing every sign of "normality," and secretly fearing something devastating is about to happen.”

Shortly before D’s second birthday, Mr. WG and I decided to sell our house and move out of state to a more affordable community. We moved two weeks after D. turned two. We transferred his file from the state-sponsored services in our old state to the new program. At the intake session, the therapist handed me a form that his pediatrician would need to fill out. We had already seen our old pediatrician for D’s 2-year checkup.

“You have a healthy 3-year-old,” he told us, as he noted D’s height and weight. We shared a chuckle.

We called the new pediatrician and got an appointment. We knew her socially, so the day of the appointment, we spent a few minutes chatting. We gave her the brief version of D’s medical history.

“And the height?” she asked.

“Well, we’re aware of it, but we haven’t had any reason to…We don’t think anything’s wrong.”

“And you saw a neurologist when he was six months old?”

“Yes, and she said he was better than normal, that’s what she said.”

“Well, I’m looking at him, and I’m looking at you, and I’m thinking… I’m thinking maybe something like Marfan’s. I’d really like you to see a neurologist and a geneticist. A neurologist – you know, it can’t hurt. It’s been a while, and I think it’s a good idea. And a geneticist will look for syndromes. And I think you should see both. And I want you to say Marfan’s, to put that out there.”

We were surprised. On the way home, we talked about it, and we figured she was just overprotective or borderline hysterical. But what the heck? We’ll make the appointments. We’ll see if it’s Marfan’s. It didn’t seem so likely to us, based on what we read on the Internet – and really, if you can’t trust the Internet, who can you trust? Silly doctor. Marfan’s!

In the meantime, we settled into our new city and had a baby. And then the day of the appointment rolled around.

We got to Children’s Hospital with D. and Baby J. – who was three weeks old – in tow. We sat in the waiting area and looked around at children on gurneys, children in wheelchairs, children with shaved heads. We didn’t say much.

And then it was our turn, and we went in to see the neurologist. And I said, “Well, I can give you the short version of his history.”

He said, “We have the whole hour, so you may as well give me the long version.”

So I did. And I ended with, “And so Dr. Sweetie wanted us to see you and to say Marfan’s.”

“I’m not thinking Marfan’s,” he said, and Mr. WG and I shared knowing smiles. Of course he’s not thinking Marfan’s. Silly Dr. Sweetie.

D. was cranky. It was past naptime, and he would not use any of his words. He did take all of the doctor’s toys and try to escape the room several times. The doctor left for a few minutes and returned with a thick book.

“I think your son has Sotos syndrome,” he said.

“I’ve never heard of that,” I said. Well, duh. The vast majority of doctors have never heard of it, so it’s not exactly surprising that I was completely unfamiliar with it. The neurologist pulled some information up on Google and said that we could do the same at home. He explained overgrowth syndromes in 25 words or less, and discussed our next steps.

“There’s a DNA test we can do that will tell us for sure whether he has Sotos or not. What insurance do you have?” We told him. “I don’t know if they’ll cover it. It’s Very Expensive.”

“OK.”

“So, do you want the test?”

Are there really people who say no? I mean, doesn’t everybody say, yes, do the test and we’ll figure out the money in a few months? That’s what we said. (And it turned out that our insurance did cover it.)

We went down for the blood draw and stopped when we saw the line of approximately 437 people ahead of us. I called M., the one friend I had made – remember, we’d only been living in our new city for two months – and asked her to take Z. home with her from school. We made it out of the hospital just in time to race to pick up S. and then head over to M’s house.

In the car, I called my parents and then used my BlackBerry to Google Sotos and I read gems like this one:

Motor delays are common due to hypotonia. Prolonged drooling and mouth breathing may be present due to poor tone of facial muscles. Delays in gross and fine motor movement are marked in early childhood and improve in the school years. Coordination problems may persist into adulthood. Receptive language (understanding others) tends to be more advanced than expressive language (formation of words), setting the stage for frustration. The child may whine or scream to demonstrate desires or emotions. Older children seem to develop competence and normal speech patterns. Borderline to average intelligence is expected, with learning deficits noted in language, math, and socialization. Intellectual, social, and emotional maturity may evolve on widely different timetables.

Guess which sentence I chose to focus on? Borderline to average just doesn’t sound so good to me. I’m sorry, it doesn’t.

At M’s house, I got out of the car and I think I tried to get out a sentence or two before I became hysterical. Why do I like M. so much? Because she didn’t try to say anything like, “I’m sure it’ll be fine.” She said, “I’m sorry,” and she asked if there was anything she could do to help. And she also didn’t stop calling me after I demonstrated just how insane I am by becoming hysterical on her front lawn. She called me a few days later to see how I was, and she just let me talk. M. is Good People.

We got home, and both Mr. WG and I spent the evening sitting with our laptops Googling away, reading, skimming, re-reading, and not really sharing our fears with each other. That lasted for about 24 hours.