Dwarfism

Maya, Sam and I pile in the car, the Tom-Tom we call Jane ready to navigate us into Mass General. Sometimes Boston is easy, sometimes not, and Mass Gen has given us trouble in the past. Jane tries to take us on Route 9, but I upset her by going I-90 anyway, and she has to change her whole route plan. My mother-in-law, Chris, has come from the Catskills of New York to help.

Ever since I spent all day at the pediatric orthopedist with Maya and Sam, by myself, I try to get help anywhere I can. I remember that day so well, and it seems like eons ago that we were told Sam would need surgery to correct his hip/femur deformity, but it also feels like yesterday.

My husband Jim isn't coming since we've been told this process usually takes time.

The geneticist, Dr. Lin, is awesome even though we're late due to unexpected rush hour at 9:30 a.m. Jane had navigated us through Cambridge, so I'm not sure it was the best in terms of traffic, but really, who ever heard of rush hour lasting past 9? Outside of DC and LA, that is.

Dr. Lin is tall, and she's very sweet, and genuinely interested in our journey from the office of Dr. Albright, the pediatric orthopedist, to her door. She has a similar demeanor to Professor Wiseman on Curious George, and this comforts me. We watch a lot of Curious George in our house and she's one of my favorites.

We spend about a half hour talking about how we came to be in her office on that afternoon while Chris tries to keep the kids busy. Every five minutes or so I pull another new item out of my bag (courtesy of my cousin Leigh) in an effort to divert them from this little hospital room. Sam recognizes this hospital, remembering the blood draw from the endocrinologist, and is fussy for the first doctor's visit ever. It hits me that Sam is learning about doctors and hospitals, and that it's not all good. I feel a sense of loss for him.
Dr. Lin knows a lot about us already. She tells us she has been studying Sam for three months, and knows my father-in-law has had his knee replaced and that my mother has had her hip replaced. She has studied all of Sam's medical records but wants to get the human Mom perspective from me.

I am starting to get nervous about all her knowledge, though I'm visibly impressed at the same time. I hear a panicky voice in my head say, "But Dr. Albright didn't think she would find anything!" Somehow my brain had turned that into, "Nobody will find anything here, you'll just get Sam's surgery to correct the Coxa Vara and he'll be fine from then on.."

My brain is still shouting at me when Dr. Lin eases me into what she believes Sam has. My rendition will be much more abrupt and less gentle than hers, just like Dr. Albright's, since it is truly a gift to be able to present this kind of news to parents in an easy and gentle way (and both of them really have).

"Metaphyseal condrodysplasia, Schmid type."

So, if you're like me, this means nothing to you. At least, if you are like me a few weeks ago, this means nothing to you.

Dr. Lin follows these words with:

"It's related to dwarfism."

I can't comprehend what I'm hearing. My brain won't process it

I want to know what it means for surgeries, how we find out, what it means in life.... She doesn't have all the answers, but I have many new questions for Dr. Albright.

"You're probably going to ask me about height," Dr. Lin continues.

"I wasn't even thinking of that," I say.

"You will," she assures me, and I sit blinking up at her. "His final height will be between four and a half feet and five and a half feet."

In the big scheme of things, this isn't that short, she tells me, especially given I'm sitting next to my 4-foot, 11-inch mother-in-law, who does not have any form of dwarfism.

This was not genetically passed, but was a genetic fluke at conception. I'm relieved to hear this because I don't want any family members, least of all my husband and sweet mother-in-law, to feel at fault. I again ask about genetics, because I'm in awe that nothing is linked, and Dr. Lin says, "Trust me." And I do. She has all kinds of degrees in this, and I know nothing apart from a genetics paper I did in the 6th grade on Gregor Mendel.

I ask her to spell metaphyseal chondrodysplasia, Schmid so I can go troll the Internet, but she tells me there isn't too much out there. It, of course, is very rare, only affecting about 200,000. She shows me a picture in a medical journal of a boy with the same condition, and I almost burst into tears. He looks so much like my little Sam, he could be my little Sam. He even has that magical grin that lights up the room.

It will be two months from this day until we get confirmation, but Dr. Lin assures me if he does not have Schmid type of metaphyseal chondrodysplasia, he likely has another one. Chris, a nurse, holds Sam for this blood draw and I'm immeasurably grateful. She does a much better job of keeping his eyes diverted, and I sing and dance like a fool. Maya doesn't quite know what to do, but watches with big round eyes.

Suddenly once again I find myself in uncharted territory. I know nothing about dwarfism. I don't know any little people. I come home and determine that the term midget is not appropriate or appreciated, ever. Chris tells me her mother has shrunk to 4-foot-9, and laughs that now she is a dwarf. I appreciate the humor, and the fact that we have so many small people in our family should make this easier for Sam (and society) to accept, Dr. Lin tells me. Chris is proof, along with her mother and all my other shorter friends, that great things can come in small packages.

But I'm still reeling. I am struggling with this shift. As hard as you try not to make assumptions about what your family will look like, you do. I always told myself whatever my kids wanted or were, would be great. I still think that, but never once was a little person a part of that picture. It had simply never occurred to me. Part of all of this is just shifting what I once had thought might be true into what IS.

I find myself wondering about Sam in school, and his social life. He could be 5'6" at the tall end if he has Schmid, 1/2-inch taller than me and only an inch shorter than his father, or he could wind up closer to 4'6" which I immediately quip -- 'That isn't so small for our family.' But in all actuality, that foot is a big difference in how Sam will interact logistically with the world and how he will socially connect with the world. There is a lot of discrimination out there for anybody who does not fit the status quo.

Of course, I adore him whether he never grows another inch or if he's 8 feet tall. How could anyone not adore him? He's magnetic. He's smart. He's so funny. He's sweet and affectionate and wonderful.

I wonder about Maya too. How will she cope with having a brother who looks different than the standard that has been set by society? She tells me that she wishes she had a physical therapist like Sam, and why wouldn't she? This cool lady comes once a week to play with her little brother. Maya is included, but not the focus and she's smart enough to pick up on that.

You see by this picture that Maya gets a kick out of Sam's PT too, and Nancy tries to incorporate things that will strengthen Maya's upper body since, like many girls, she is weaker in her arms than legs.

I worry Maya will grow up resenting us all for his disability that garnered him special attention. I don't tell her that she shouldn't wish that she had a PT too; instead I tell her, "That must be hard, huh, when Ms. Nancy comes to play with Sam?" She says it is, and I let her know she's done a great job playing that day too.

"I was so proud of your pirouettes over the blocks, and you are so awesome at helping your brother get stronger so he can do more things," I tell her.

This gets a smile from her, and I decide right there that she should be a part of the whole process in any way that makes her feel good. If she wants nothing to do with it, that is no problem. If she feels good helping him, and she really seems to, that's great too. No pressure, and no guilt for being jealous sometimes of the attention.

This is all in day One of hearing the word dwarfism related to my family.

The Followup and Physical Therapy

It already feels like forever ago, though it's only been two weeks.

We returned to Dr. Albright, Sam's pediatric orthopedist, about three months after the initial Coxa Vara diagnosis.

I had prepared myself for either of the two possible outcomes: Bone self-correction or surgery. Looking at my son, I did not think his bones were changing, despite his tremendous physical accomplishments, and had braced myself for the recommendation for immediate surgery.

I didn't realize there was a choice C.

I'm getting ahead of myself though. I should recap what happened between those two appointments.

I was lucky enough to have heard about Early Intervention, and asked for a phone number at Sam's 2-year checkup so I could set up an assessment. It took about a month for a team of E.I. specialists, comprised of an occupational therapist, speech therapist and a physical therapist, to come to the house and test Sam. He was off the charts in almost every area, like verbal, problem solving and fine motor skills.

At 2 years-old, he tested at 16 months for gross motor skills, landing him in the Early Intervention program. A physical therapist would be in touch with us soon to set up our schedule. I was thrilled and relieved we were going to get some help, and since E.I. is largely funded federally, it wouldn't cost us much or our insurance anything.

The physical therapist, Nancy, has done amazing things for Sam. She pointed out right away that he was limiting his upper body motions, probably because he found what worked and stuck with it since movement was so challenging for him.

He started climbing half steps with his feet. He began going up small slide stairs and going down on his belly. Before, he was unable to do slides at all, and had passed the phase of wanting Mommy's help. At that point, he would knee up the slide a step or two, and then come back down. Suddenly he was going down like a penguin.

Maya would cheer him on, saying, "You can do it Sam! Great job!" His sister's praise seemed to drive him even more.

Soon after, he began using his upper body strength like a gymnast to push himself up off the slide, with only his palms making contact as he worked his feet out in front of him and hurled himself down. He had a hard time landing at first, toppling over onto his head, but he learned to jerk sideways at the bottom so he would land on his butt instead. He would shout triumphantly, "My did it, Iya!" (Iya is Maya's nickname.)

He is constantly amazing us with how hard he works to reach physical goals he must be unwittingly setting for himself. He is so strong, and so determined.

About a month after the initial diagnosis of Coxa Vara, I took Sam to the endocrinologist. The blood draw was awful, and took a little rooting to tap his vein.

I will never forget the expression on his face when he turned around, his big confused eyes brimming with tears as he asked, "Mommy?" Why would the mommy who always protected and comforted him hold him down so strangers could hurt him with needles?

I cried, but kept singing to him. He does not like the Wheels on the Bus song anymore. The tests turned up nothing, which seemed to be good news. What had looked like Rickets was not. The endocrinologist from Mass General referred us to a geneticist there. We got an appointment for the week after Sam's follow-up with Dr. Albright.

Even though I had prepared for that second batch of X-rays with the orthopedist, I was nervous and shaky, and missed my exit. My mother-in-law, Chris, came from New York's Catskills to help, and Jim got off work and we all caravaned.

Dr. Albright took more X-rays, and Sam's bones had not improved. That much I was prepared for.

But still, the unexpected happened. One thing I'm learning as we wend our way through all this is that we can not count on anything; nothing is static.

Dr. Albright, who had initially said he would do the surgery right away if there was no improvement, worried if he operated on someone so young, Sam could lose too much blood after having the bone on one side cut. That would mean two surgeries followed by two body casts. Not only that, the doctor would have to use a less favorable method to pin his bones because he is so small.

And, he said the chance of recurrence was high, more than 50 percent.

Dr. Albright had said Sam is not in pain, but watching him carefully I am not sure I agree; he seems very sore after a lot of physical exertion, which is for him much less than other children. I'm not convinced his joints are pain-free, but really can't be sure.

Dr. Albright would consult his colleagues and call us back the following week. We spent the week swallowing the odds of Sam getting multiple surgeries.

But when Dr. Albright called us back, everything had changed again. Now he was saying that there was a new infant metal bracket for placing his bones that he could use effectively.

Recurrence would be greatly reduced if he straightened the bones enough. Even though they are so curved, he said he could do it.

His colleague, a pediatric orthopedist who specializes in hips, would also attend surgery. They all agreed it should happen within a year, but in cooler months so Sam isn't miserable in that body cast, preferably in the Fall, but we could wait until after the holidays if we wanted. Immediately I thought January -- after the holidays, and Sam would be out of the body cast by his third birthday.

Dr. Albright didn't think the geneticist would find anything, but told us to let him know. Jim and I were completely exhausted, but agreed the news was better this time than a week prior.

But, the geneticist would find something, and everything was about to change ... again.