Stone fish

Sam pressed his hands against the glass, peering through intently. A little girl next to him glanced nervously back at her mother, who watched with knitted brows. Sam's concentration broke only for a minute, just long enough to send a Transformer car down the ledge he was kneeling on, complete with throaty race car sound effects. Then he glanced up through the window, making sure he didn't miss anything.

The veterinarians and assistants gathered around the tiny creature on the table.

"What's wrong with it? What's wrong with the fish?" Sam asked matter-of-factly.

"They don't know honey," I told him. "That's why they're doing surgery on her, to see what's wrong and make her all better."

"Those doctors are going to make her better?" he asked.

"They're going to try," I said. "It's different than when you had surgery. Then, the doctors knew exactly what was going on and what they wanted to fix. This is a kind of surgery where they don't know what's the matter. But they're going to try to make her all better."

The little girl next to Sam looked at him in horror.

"It's OK," he told her. "The fish will get to go home after a few days in the hospital."

This all unfolded at the New England Aquarium in the room where they treat sick animals. We've seen all kinds of creatures being treated in there -- turtles, rays, sea stars -- but this was our first surgery. I was glad Maya wasn't around. I didn't think she'd appreciate the neat square cut into the fish's flesh with a scalpel, or the tweezers being inserted inside.

Most of the kids didn't appreciate it, actually.

But Sam was fascinated.

"Why are they covering it with that plastic?"

"I really don't know. Maybe to help the fish stay wet," I guessed. (Assistants kept wetting her down with an anesthesia-laced liquid.) "Maybe to keep as many germs out as possible. Any incision has to stay clean."

The mother next to me saw the fish twitch.

"It needs more anesthesia!" she blurted out, her face pained.

"Actually, movement doesn't necessarily mean it's wearing off," I told her gently. "They have to be really careful not to over-anesthesize a creature so small. That could hurt her even more." (My way to avoid saying "kill her" since that concept might be slightly terrifying for the 3-year-old slated to have a third surgery in January.)

Her daughter told her she was ready to go, and the mother chucked her in the stroller and hurried off without a second of hesitation.

I sort of relished the fact that Sam and I were the weirdos at the aquarium that knew a creepy amount about surgeries on small creatures. If you're going to get all the experience, you might as well get a kick out of freaking out the people with none at all. I mean, we'd all prefer ignorance on this, right? And actually, I was trying to comfort her. But I think she was made nervous by these people who seemed to be showing no concern for the fish, and almost a detached voyeuristic interest. All science, no emotion.

But hell, it's a fish. I thought it was great they were performing surgery on a small stone fish. Would anyone have noticed if they'd just shuffled it off to the side, never to be seen again? At least they were trying to help her. And when you've watched your child go through much more intense surgeries, it becomes a clear where a fish ranks, even for an animal lover like me. Even with your kids, you do your best to become detached. The only way to make it through is to view surgeries as much like a scientist as possible.

And as a scientist, I would say these surgeries have been the most successful surgeries in history. Okay, maybe that's the emotional point of view, but they have really exceeded my expectations in terms of what Sam is now able to do. Medically, performing these surgeries at such a young age was exactly the right thing to do for him. How validating when you have chosen "elective surgery" not even for yourself, but for your toddler. Yes, the pediatric orthopedist recommended it, but the struggle involved in making that choice for your toddler is pretty excruciating.

For the first time since launching this blog, I hadn't gone back and looked through the whole thing until I began changing all the names. (I'm sure I've missed some identifying factors, and I'm still not sure how I'm going to handle this through Facebook. As always, I'm just winging it.)

It was amazing to me, reading about Sam almost as if he were someone else. I've almost forgotten how hard it was for him to get around just one year ago, before he had even had his first surgery. He still doesn't do everything the other kids are doing, but he is nearly indistinguishable. If you didn't know there was an mobility issue, you might not even pick up on it.

He's jogging/running without a swagger. He's not winning many races, but he's running and he's thrilled. He can now walk a balance beam, where as before his stance was far too wide to manage it. He whips right down slides and can land squarely on both feet at the bottom, whereas he used to topple over since his legs couldn't ground him at that velocity.

He no longer has coxa vara, and might never again, according to Dr. Matthew Warman, the geneticist who discovered the gene that causes metaphyseal chondrodysplasia, Schmid type. In fact, I should recount this conversation. I've given a few of you some accounts, but if I type it, I'll be more thorough. (Just ask the man who edits my 4,000-word boating industry analysis articles.) And it will help me process it all again.

Dr. Warman discovered the gene that causes Schmid, a type X collagen mutation. (Hence why his daddy calls Sam an X-Man, and being all about superheroes now, Sam loves that.)

Sam might not ever need another surgery following the one to remove his metal this winter. I'm trying not to hang too much on that, since he might need another, or several. If he does, that would likely be for his knees, his wrists, or maybe his femurs again.

Dr. Warman used to believe that if Schmid kids lived on the moon, or anywhere else without gravity, they would never get coxa vara. I had also read that it tends to affect weight-bearing bones.

But now geneticists are trying to figure out if that's the case. There is increasing evidence that a protein in the growth plates of a person with Schmid would cause the problems regardless of gravity. In Dr. Warman's words, that causes those growth plates to be "a little bit sick." It might be that those proteins would cause the short limbs and bone deformities even if those bones never had to bear an ounce of weight.

Right now some geneticists are working on trying to heal those sick growth plates so that the bones will grow and develop normally. Dr. Kathy Cheah at University of Hong Kong is working on this, and so are Dr. Mike Briggs and Professor Ray Boot-Handford at The University of Manchester.

The work hasn't progressed beyond mice at this point, but maybe in the generation of Sam's children this treatment will exist for people. That would be worthwhile for me. I wouldn't let Sam be a guinea pig, and I wouldn't consider growth hormones (if they were appropriate for Schmid, which they're not) or limb lengthening without a medical reason for doing it. However, something that would both enable Sam's child to grow typically and avoid all these surgeries would be pretty fantastic. That's assuming Sam A, has kids and B, they end up with Schmid too. They have a 50-50 chance provided Sam marries someone without a genetic form of dwarfism.

Another concern he addressed was regarding Maya. I'd mentioned Jim and I were planning to be tested just to make sure neither of us were latent carries of Schmid. We didn't care for us, but figured we should know for Maya.

This wouldn't be necessary for several reasons, Dr. Warman said. First of all, nobody would be a latent carrier. To have passed this to Sam would mean one of us had maybe 1 percent of genes affected, whereas Sam has 100 percent. That would make his probability, genetically, of getting Schmid the same as anyone who came from parents who didn't have any genes affected. Sounds crazy, but I have extensive notes on this in my effort to understand. Email if you'd like a copy.

The other, perhaps more compelling reason this is moot, is that within the next three years, Dr. Warman said we will have complete genetic sequencing fully accessible to us for a fairly nominal fee. But, just because we'll have the information doesn't mean we'll have any idea what to do with it. Which is why we're lucky it will be 20 years (at least!) before Maya's ready to have kids, because by then we should have them pretty well figured out.

In fact, people who have any sort of genetic risk (so, everyone) will get these sort of genetic maps and compare them together before having children if they're concerned.

"How romantic," I said dryly, and he quickly responded, just as dryly: "Yeah, really."

But it's pretty awesome. Science continues to astound me. I sometimes still wish I'd taken my career in that direction.

Arthritis will only be a problem for those who have endured longterm joint malalignment. Dr. Albright, Ewan's pediatric orthopedist, will be keeping his eye on that when he checks him for the rest of his growing life. (See why we can't leave Boston? Not that we were going to, but it's really out of the question.) Dr. Warman says the surgeries he's already had will keep those joints aligned the way they were meant to be. That could change, and if it did, future surgeries might be necessary.

Ewan's physical therapist has also said having the surgeries done earlier instead of later will help his overall body functionality, and minimize back problems from the swagger, and other bodily stresses from overexerting some muscles to compensate for the muscles that didn't work before the angles of the femurs were corrected.

I'm probably getting too technical and losing some people. But the very few people I've met who live with Schmid or loved ones with Schmid will likely be pretty interested. If you're not one of them and you're still reading, the technical stuff is pretty much over.

Socially, Dr. Warman said in his experience children seem to be fine until around age 12, when there is a more noticeable size difference. He said he would tell his patients to look around them though. Everyone was getting picked on for something, right?

Sam's life expectancy or life quality won't be any different from anyone, Dr. Warman said.

In essence, having Schmid doesn't make a person that much different from everyone else. I guess I knew that on some level, but it was nice to hear the guy who discovered the gene reiterating that fact. And we've been so caught up in the surgical components, and I don't want to minimize that, it's been hard to see the forest. But this sort of gave me a bird's eye view of Schmid for what feels like the first time.

My son will be small, but not as small as a person with achondroplasia, the most common form of dwarfism. If we need support it's there. Some of Dr. Warman's Schmid patients (or loved ones) have sought it, others have been more comfortable without. It's harder for him to get around than other kids, and I still bring the stroller pretty much everywhere so I won't have to carry him.

The surgical element might be almost done, but we won't know until time passes whether that's the case. And since Sam's been potty trained, he won't need a body cast this time. I'm trying not to get too excited about that one, but it's pretty hard. That cast is a pain, and it is literally painful for Sam. I'll be hypervigilant to make sure those bones are protected as they heal. One tiny sign of roughhousing, and I march the boy right in to get a brace fitted. That doesn't work, they put him in a cast that comes lower so he can still use the bathroom.

I keep forgetting to measure him so I can get back to Pass It On, based in Mashpee, Mass. The owner of this incredible nonprofit, which accepts medical equipment donations and finds people that will need them, is looking for something that will make it easier for him to go to the bathroom post-op. I've been meaning to do it for weeks and only remember when he's sleeping or in the few hours a week he's not home.

Today, I'm feeling on top of things. Sam is doing awesome, and the better he moves, the more I love his surgeons. And the more I learn from experts like Dr. Warman, the more confident I feel about what's ahead.