Overwhelmed ...? Understatement

I'm going to do my best here not to sound as beaten as I feel.

Sam's surgery is a week from Thursday.

We've all got a cough that has lasted for weeks, and I think carrying this cold, or swine flu, or whatever, has taken its toll on me.

I think I will have to take Sam back in to make sure the antibiotics kicked out his double ear infection; he seems to be feeling lousy again. They won't put him under unless he is totally healthy.

Not only that, we all have a ton of appointments before then. I have an EKG (echocardiogram) and an MRI scheduled for tomorrow. The MRI is to look at my head and see if the big fall I took a year ago Christmas Eve is the culprit of these intense stabbing headaches I've been dealing with for the past 13 months.

The EKG is because the doctor heard a heart murmur and said that this can sometimes cause aneurysms. Don't you just love to hear that word at a doctor's appointment? I doubt this is the case. He told me aneurysms can sometimes cause headaches. It was my understanding that aneurisms caused death.

On Thursday, I'm seeing a neurologist and my primary care physician to go over all of this.

On Friday, Maya is going for her MRI and EEG. This is because the Monday before the New Year, Maya came into the kitchen woozy at about 7:30. I was out with Miles, Jim was chopping peppers for me after his dentist appointment. I wasn't out there five minutes when Jim shouted to me that something was very wrong with Maya. I ran in, and found him holding her. She was drooling all over the place, to the point that it was bubbling out of her mouth, and she said she had a headache.

She asked, "Why am I talking funny?" in this thick slurred voice. I thought she might be having an allergic reaction, but couldn't figure out the drool. I looked at her tongue to see if it was swollen; it wasn't. She seemed dazed, but not completely out of it as if she were having a seizure. There was no fever ... just pale skin with some splotches on the right side. The whole right side of her face was drooping as if she'd had Novacaine.

I took her to the ER. I didn't call an ambulance because she seemed to be coming back. I actually let her eat first, probably not smart, but she kept saying she was hungry. She seemed OK. Not quite herself, but pretty good, actually jumping around at one point.

We got there at about 8:30 p.m., and they did a CAT scan and a urine test. I assume the latter was in case we had some terrible drug in the house, and they also mentioned blood pressure medication. But that didn't fit because her blood pressure was fine. They pricked her finger to check her blood sugar, which was fine, and thank God the CAT scan came back clear. I guess the initial concern was a brain tumor or stroke. We got home at nearly 2 a.m.

She was such a little trooper. She picked out a little toy for herself, something they do in the pediatric ER, and then asked if she could find one for Sam. She took her time looking for something he would really like instead of just finding something she wanted.

We got in with this great neurologist, and I patted myself on the back thinking it was my persistence, but quickly learned that Maya's pediatrician is in the same practice with the neurologist's daughter.

I liked him instantly. He was was confident, but not overly so, and he was very connected and great with kids.

I had thought he was leading me toward questions that related to her sensory issues, and began to wonder if there was something there, but he didn't think there was any spectrum behavior at all. I really didn't think so either. I'd had a little scare a while back, but now realize Maya deals with stress by sort of disconnecting. We'd had a bout of that before we moved, but then as soon as we were in the new house, she was back to herself.

The theories now are: It could have either been a seizure, a migraine, a fluke in her neurological wiring that would cause episodes like this one, or just a fluke that will never happen again. I'm really liking that last option.

Last night I had a dream that Sam was going for surgery and I couldn't stop crying. I was scaring him by bawling so much, and I couldn't make it stop. I stopped at a hot dog stand, and cried when the guy at the counter said, "I see your lips moving but I don't hear a sound!" I cried at Trader Joe's today when I saw a mom kiss her baby. I cried when I made the appointment for Maya today and I cried while hanging out with good friends last weekend, though granted that was after having champagne.

For the first time, I really feel like I'm cracking. I really just wish it wasn't so close to when Sam was going for his surgery on the right hip. He needs me to be strong, and I'm just hoping I can do that for him. Maya needs me to be strong, during her tests and during this surgery and recovery too, and Jim is counting on me to be strong. I'm here all day with the kids, I can't check out.

(Fortunately, a couple days later, I'm feeling more myself. Praying it lasts... Also, I don't have an aneurysm. Yay! Time to explore TMJ.)

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 Beginning - discovering Sam's skeletal deformity

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.