It was three days after Sam's second birthday, and we were headed to Newton-Wellesley Hospital.
At a glance, nobody would suspect Sam of being anything other than a totally healthy, intelligent and hilarious toddler.
We were referred to Dr. Albright because Sam's waddling gait had been nagging at me, as well as the fact that he wasn't climbing with his feet or running. This was all normal at 18 months, but it occurred to me that he was almost two. I had always been casual about my babies reaching milestones, but was suddenly struck by the fact that he seemed to have a harder time walking than other kids his age and was behind in several gross motor areas from the waist down.
On top of my concerns, two people on separate occasions had approached me very gently and kindly, about his walk that earned him -- along with his outgoing demeanor -- the nickname, "The Mayor." "Have you had his hips checked?" they asked.
Dr. Albright noticed his gait too. He also noticed other things, like limited range of motion in his legs, an asymmetrical swagger, and mismatched fat rolls on his kissable thighs. He ordered X-rays, which we took right then. Newton-Wellesley Hospital has a great children's section, where Maya could be in a small, private, enclosed waiting room while I shut myself in with Sam during radiation.
I remember glancing over at the monitor that instantly registers X-rays digitally. My heart sank; even with no medical background, from across the room, I knew his bones didn't look right.
The lab tech sent me home, even though I was sure the doctor had told us to wait. I took the kids to lunch at the cafeteria, drove home confused, and put my exhausted children in bed. They had been so good all day, with not-yet-4-year-old Maya entertaining 2-year-old Sam and singing to him when he would protest during the exams, though he mostly smiled and giggled.
The more I thought, the more sure I was Dr. Albright had told us to wait. So I called the hospital. Dr. Albright got on the phone impressively quick, which caused my stomach to knot up again.
"Can you come back? The X-rays are abnormal, and I'd like to talk to you in person so you can understand." he said. "How fast can you get here?"
I pulled the poor kids out of bed and raced back to the hospital, my mind whirling. What is wrong with my baby? I wondered, but kept outwardly calm so as not to upset Maya and Sam more than they would be spending the day in a hospital.
Dr. Albright spent a lot of time with us, explaining that Sam has a very rare bone disorder called Coxa Vara. It generally affects children on only one side, not both like Sam. It means the tops of the femur bones are, instead of at an obtuse angle, at more of a right angle. There is a more complicated explanation, but this one is more visual for me, though not completely technically accurate.
Usually it is congenital, or present at birth, though some vitamin deficiencies can cause it. Dr. Albright didn't think that was the case, but he had to take some X-rays of his wrists, and more of his hips, to be sure.
This is not an X-ray of Sam. Sam has Coxa Vara on both sides, which is demonstrated in this X-ray in the left hip/femur (hip on the viewer's right). The right hip (on your left) is a "normal" hip/femur.
It's safe to say I was completely stunned. I had initially come to this appointment expecting the doctor to tell us it wasn't a big deal ... maybe a referral to a good physical therapist. About six hours and a failed nap later, I felt tears needling at me, but gulped and forced myself to become fixed on Dr. Albright's eyes and focus on what he was saying. I had to make sure my kids didn't see me react and reflect what was in my gut right then, and I had to take all this in to tell my husband Dave, who was still at work.
We went back to radiology, and Maya again sat quietly, coloring in the waiting room, while I sat with Sam. After each image, I ran out the door to ask Maya if she was OK. She had to go potty, so I took her into the little bathroom, while singing Wheels on the Bus loudly enough for Sam to hear in between X-rays. The lab tech was amazed at how still and happy he was.
Dr. Albright came in to make sure he got the right pictures, which made the lab tech very nervous. At one point, she forgot to make sure Sam's parts were all covered, so I piped up before she could push the button. We may be getting lots of X-rays, so let's make sure the boy can still have children if he chooses.
He wound up having an abnormality in his wrists, and Dr. Albright referred Sam to an endocrinologist to make sure he didn't have Ricketts or some other absorption problem.
In the meantime, Dr. Albright told us to prepare ourselves for major surgery on both sides, a day-long event, that would land Sam in a body cast for six weeks. That was unless his bones changed drastically in three months, when he would X-ray them again. The initial surgery would be followed by a second to remove the metal from his body.
And I sat still, thinking, this surely could not be happening to my child.... surely, there was some mistake....
This was just the beginning to a long and jerky path that would jeer out of direction every time we got a handle on what we thought was true....
It has gone from a correctable skeletal deformity into the possibility (or probability, according to the geneticist two days ago) of Sam having Metaphyseal Chondrodysplasia, Schmid Type, a disease associated with dwarfism, and one that could entail several surgeries.
Every day we're hurled into something we didn't expect, and as a reporter and writer and mom, I'm making it my goal to find anything I can out there to help us along the way.
