Hollow bones

“I wish I could see Mr. Sun, or, Father Sun

I wish I had hollow bones

so I could fly in the air

next to him

I want to be a bird

I want to be iridescent

so I can be a sparkle

in the sky”

• Maya, June 8, 2010

I wonder why it seems I hardly ever get my happy blog out.

Sam has been walking for weeks, beginning two weeks from when he got his spica cast off in the ER. He’s doing really well. That’s what Dr. Albright said when we went for X-rays at Mass General. He is way ahead of schedule.

“He’s got good bones,” Dr. Albright told me.

He also told me that when he goes in to remove the metal brackets in each leg -- which were added after each surgery to correct coxa vara on both sides -- he will want to put Sam in a full spica cast just to be safe. For four weeks.

We’re looking at January for Sam's third surgery, one year after the first surgery on his right leg.

Sam in his last spica cast, known as a "one and a half" since only one side went down to his ankle. The next cast will be a "full," as both sides will go down to both ankles. Maya, Sam, Dave (not pictured) and I had fun at this wheelchair-accessible playground in Sudbury.

That was quite a blow, though I have to say it was a tiny bit of a relief too. Dr. Albright had told us in the Newton-Wellesley ER when he came to personally remove Sam’s cast on a late April Friday night that we’d have to keep him off his feet for six or eight weeks.

“How do you do that with a 3-year-old?” I remember asking.

I don’t know for sure, but I think when he’s looking at the size of Sam’s bones at each X-ray, he is considering how small they are and how big the metal is. The brackets will leave some big holes in those bones, and one fall, or one kid falling on top of him, could break it and would require another surgery and more titanium.

And obviously, Sam is immune to pain and sitting still, even after two major surgeries and weeks in two body casts. He just is determined to become mobile again the second those casts comes off.

Dr. Albright wants to be safe.

So I showed Sam his bones on the screen. I showed him the before picture, where his femurs are angled severely. In the second X-ray, I showed him how much straighter his legs were, with a ‘typical’ angle, and pointed out the metal. (Unless I take a picture of our X-ray printouts, there's no way to show an example. I think the technology is that new, and the condition is that rare.)

“That’s really cool!” Sam said.

I agreed, it was cool, and reminded him how much like an X-Man he is.

I figured it was as good a time as any to tell him what was ahead, since at least he had a visual and could understand.

“Buddy, I know I told you that you wouldn’t have to be in a cast again, but Dr. Albright has to take that metal back out, and just to be safe and keep those legs strong, he’s going to go ahead and put you in another spica cast again. OK?”

“Alright,” he said, rather brightly actually. “Is that today?”

“Nope, not till winter,” I told him, making sure to match my tone to his.

“OK! .... Look! That’s my BONES!”

It didn’t even phase him.

On the way home, we listened to The Pixies (Doolittle) really loud and I cried a little behind my sunglasses, just knowing we had another one ahead, even though I think the reasons are good. (As loud as hell/ a ringing bell/ behind my smile/ it shakes my teeth...)

Then I’d turn to look at Sam, and he would give me this huge, lit-up grin, like nothing bad was in his world. Nothing bad.... He’s such an amazing kid.

Maybe I haven’t been taking this for what it’s worth. It’s been easier to just live and not acknowledge the day-to-day differences of our lives.

But grasping that this isn’t just one isolated surgery, it’s repeated surgeries, has created the dawning that there are certain things I have to address. We can't deal with the surgeries, and put off dealing with the differences in our lives later. This is just a way of life now, it’s not a fluke. I feel like Maya ... I want to have hollow bones.

But all my bones are so dense that I feel every little twinge way down in the core of them all, in each crevice of each bone in each piece of cartilage in each little appendage. I weigh about 1,000 lbs. I just think about potential pain for him, and feel the old ulcer (I think) twitch. (Whatever it is, hopefully Monday's endoscopy will bring some results.)

Until yesterday, I hadn’t broken down in a while.

My close friends in Ulster County talked to me about this, said this might be the main cause of my stomach distress, and I agree. There hasn’t been an outlet. I explained, that you really have to be on for those kids, even when there are worlds behind your eyes shattering, you have to look solidly ahead, for them, and nod calmly, take a few notes, give your kids a book to read while you listen to the doctor, talk in chipper voices when they’re screaming in terror or pain. That’s just the way it is.

I suppose, as I was told last weekend, I have to find more time for myself to break down, and thank you friends and mountains for tapping into that quiet place that knows what is best for my self ... it’s why I could allow myself cry in the car. Sam had no inkling; I felt better than if I hadn’t.

I think shoving all this down has kept me from realizing some big reality in our future too -- if Sam is going to live as a typical kid his age, we are going to have to tinker with things to see to it that he can interact with the world the way a typical 3-year-old should.

The surgeries have put him up near the first percentile for height, but until then his growth had continued to decline below the charts. It makes sense; his skeletal dysplasia (Metaphyseal Chondrodysplasia, Schmid type) is associated with dwarfism, though his projected height is between 4.5 and 5.5 feet.

We’re going to have to find creative ways to rig the slider so Sam can reach it until he’s tall enough. I have some ideas about that.

We have to put a low towel rack in the bathroom so he can dry his hands, and we have to add height to his stools so he can do things independently, like turn the water on to wash his hands or reach countertops. We need more step stools, some with two or even three steps.

I’m even thinking of reducing the heights of stairs out front so he can move up and down them without using his knees. Now he either has to get wet if it’s raining, or I have to carry him. Typically, I carry him.

He wants to do things himself, and if his world were geared just a touch smaller, he could. I want to empower him to not need me. As much as I love him trusting me to be there for him, I have to make this all work for him.

If we can give him the tools he needs to be independent as his age would dictate, he might not notice for a while that he’s smaller than many others. It’s not that I don’t want to celebrate his differences, I do, I just don’t want him to realize obstacles as a result of them. I definitely don’t want him to get hung up on any of those obstacles should they occur.

Really, he is such a happy kid. Right now he doesn’t notice that kids are taller than him, partly because he’s usually the youngest in any given situation. He and Maya are both so extraordinary. I would even say they sparkle, though it worked better in Maya’s poem than it does here. What can I say? My 5-year-old already writes better than I do.

Up Down Up Down

There's a Yo Gabba Gabba episode with Jack Black, and he does a Disco Roll dancey dance (which I looked for and couldn't find) and the refrain is: "Up! Down! Up! Down! Up! Down! Up! Down! And roll! ..... And back! .... And roll! ... And back!"

I find this cadence echoing in my head frequently these days, partly because the New Friends episode is my kids' favorite and because I disco with Black like nobody's business. But it's also because one day I'm so completely up -- confident that I'm preparing myself for all of Sam's medical issues around his metaphyseal chondrodysplasia, Schmid type diagnosis and feeling utter confidence that we will all prevail and be fine -- and the next dragged-energy down, totally confused and unsure of how we'll navigate the future.

On Thursday I spoke to the pediatric orthopedist Dr. Maurice Albright about the surgery to correct Sam's bilateral coxa vara, about pain management and the spica, or body cast, for six weeks.

I felt so much better after that conversation. A lot of the answers were the best-case scenario, and that gave me hope. Dr. Albright spending 40 minutes with me on the phone in between patients in the OR also gave me confidence, as well as his steady assurance that he would take good care of our son.

He also consoled me in other ways.

A spica cast didn't seem as crazy and scary as it had before, and a good friend said he would help us build a spica chair for Sam, which is awesome.

I learned that Sam will need two sizes of diapers, one tiny swaddler size (or even a maxi pad, Dr. Albright tells me) to tuck into the cast and a big probably size 6 to go over him and the cast. We will have to try our best to keep it clean and dry ... a daunting idea for a toddler in diapers, but Dr. Albright said most people are able to keep it well enough to last the duration.

He's going to arrange for me to talk to the other surgeon (because Sam is so small and the surgery is so long and intense, there will be two of them) and to the anesthesiologist.

I am also still hoping to talk to the doctor in Delaware at the Alfred I. Dupont Hospital for Children, Dr. William Mackenzie, who specializes in pediatric orthopedics as well as skeletal dysplasia. I'd like to discuss anesthesia, and about pretty much everything, since the biological makeup of a person with a skeletal dysplasia (which is a type of dwarfism) is different from someone who does not have dysplasia.

We will give Sam Tylenol with Codeine in liquid form, so that alleviated my concerns of potentially giving him pain medication intravenously. He will have a general anesthesia for the 12-hour surgery, which will likely be followed by a spinal epidural to ease the post-op pain. He will probably go in on a Thursday (Jan. 7 or 21st) and come home Saturday morning if all goes well.

Dr. Albright sounded confident, but not eager or overconfident. It was just the right balance to me. He was exceedingly patient with my dozens and dozens of questions. Some of them were slightly more inane sounding than others, I suppose.

For instance, I asked if they had clowns.

I think Dr. Albright thought I was joking, but I referenced a story sent by a close family friend that found children were much less stressed when there was age-appropriate entertainment like clowns. Dr. Albright said he would see to it that Sam had access to child life specialists to help with anxiety.

I told him this was important -- the article (which I can't link here because the story was clipped from a paper and I don't know which one) mentioned that parents being present surprisingly did not reduce anxiety levels in kids unless the parents were receiving acupuncture or other calming techniques. (I'm wondering if Valium qualifies as a "calming technique.")

Suddenly I felt a shred of control, just a bit of confidence that I could indeed handle this, all while buying a house. This was on the eve of a follow-up with the geneticist to discuss his metaphyseal chondrodysplasia (meh-taf'-uh-SEE'-ul con'-dro-dis-PLAY'-zsa), Schmid type.

As usual, every single time I get the slightest bit comfortable, things shift.

Here we go in genetics.

It wasn't anything specifically that the geneticist Dr. Angela Lin said that I didn't already know. It was just being there this time. I couldn't get my head together.

We talked about some genetically alarming things that may or may not even pertain to Sam's future. They were pretty much things I knew, like, Sam's chances of passing this to future offspring are 50-50. That is if he partners with someone who does not have Schmid. I wonder if it's the same odds for children by two people with different types of dysplasia as it is if they have the same. They are trying to find out for me. That's about all the detail I'm prepared to go into on that subject, and at this point it is not really what we need to focus on.

We had a brief discussion about the possibility of growth hormones, a topic that makes my insides cinch up and knot. I'm almost relieved learning today that it doesn't seem they will help in Sam's case. I don't ever want him to think we're trying to fix him, that he isn't right just the way he is. If others in the world are too stupid to recognize his greatness because he is of a different stature, I mean it when I say it's their loss. Sam is so wonderful that the people who really matter, who will matter to him, will not see his size as anything but a piece of who he is.

I had an eerie feeling with other doctors in the room, as Dr. Lin explained cues for identifying Sam's condition. I didn't mind this; I'm happy for anyone to be more educated on this, particularly the doctors who will help diagnose such genetic conditions.

But I couldn't help feeling protective of him there on that table, small and agreeable, as they discussed how you could tell that his fingers were smaller proportionately because of the hand creasing.

"Are his toes also out of proportion?" one asked.

Not really, Dr. Lin said, though the big toes were broader than an average bone stature.

I asked if this is why his second toes don't touch the floor when he walks. I know this because even when he's barefoot outside and comes in with little filthy feet, those toes are clean. She said possibly, she didn't know.

It was nothing these doctors did, it was just being the center of this discussion, almost as if Sam was a subject and not my sweet little boy. All of that while running down the hall to check on Maya using the potty... it just made me feel protective, like I wanted to snatch him and say, "Don't talk about his limbs as if they are a novelty!" I wanted to kiss everyone one of his tiny perfect fingers.

I maintain that they conducted themselves with perfect professionalism and friendliness and respect for us all. They obviously like Sam as a kid, who wouldn't? But something about it made me want to take my babies and run.

We left there dazed, as I hustled the kids across the street to get some pizza. Then to Ben & Jerry's for ice cream. And then to ballet.

The kids have been acting up. Last week I believe some things sunk in and stuck that hadn't before, and that ranges from my discussion with Dr. Albright to our morning at the hospital.

Jim and I are trying our best to get them excited about buying a new house (to us, actually it was built in 1949), painting their rooms whatever color they want, and then we find ourselves talking to them or around them about the logistics of Sam's surgery, body cast, genetic predisposition.

It's a whole lot for a 4-year-old and a 2-year-old to take in.

It's a lot for a 35-year-old to take in too.

But we're bumbling along, and I'm trying so hard to do things right by them. I just restarted Being The Other One by Kate Strohm, so I can help Maya along through this. Right now, I think she needs some understanding from us. When I noticed her being a little mean to Sam, not wanting him to play with her (more so than their typical brother-sister stuff) I made sure I asked her later if she was angry at Sam. She said she was, but didn't know why. I told her that it was OK to feel angry sometimes because he is getting so much attention in this. I told her she was a good girl. This seems to have changed her attitude dramatically.

Sam is still consoled by me holding him and rocking him and telling him Mama is here. Maya is getting to the point that she needs more. I'm trying to let them both know that we're all confused sometimes, we are all scared sometimes, but I know we will all be OK. We're a family, and we'll do this, and we'll be stronger for it.

I think all in all, we're doing a fairly good job with it all.

Up! Down! Up! Down! Up! Down! Up! Down!

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.