Another Installment About Growing Up With Jarcho-Levin: AD

Okay what you have to understand is that up until a few years ago, we didn’t have a name or specific medical label for our condition. When I say “we” I am talking about those of us in the family with Jarcho-Levin:AD. That would be my father (the first), me, my brother, my second son and my third son. My second brother and my first son and my daughter are all unaffected. So although I didn’t grow up completely alone, I was the first female to have it. Now, my family of origin is a family of science-lovers. I wouldn’t call us nerds (at least my parents) because I can’t think of anything they really obsessed over. They are just science-loving people. My father has a degree in applied physics and my mother is a medical technologist and phlebotomist. I was raised with many off-beat and radical concepts – they both also being hippies – like Zen and social justice activism as a way of life, but information and knowledge was our core. Science, logic and rationale trumped everything in our household.

So when I was around 4 years old, my parents began taking me to a certain hospital that at the time was known for their research on disabilities. I have no idea what prompted it, other than most likely my parents scientific curiosity. I do, however, know what pushed it into the lengths that it went: the doctors. The doctors told my parents they could figure us out. Nobody said anything about cures or treatments, obviously there is no cure or treatment for this kind of genetic disorder, but the doctors fed my parents respect of science and belief in the nobility of medicine and the “payoff” was going to be knowledge.  To this day I wonder, as well, how much intimidation was involved. My father is not a firebrand, not brave, he isn’t the type to feed his own ire and let loose his emotions. Its the downside to being a logic-worshiping family, I suppose, but my father is also a product of his upbringing in some ways as well; he was raised in an environment where he was ridiculed for his difference, mocked, teased, and humiliated on a regular basis (until college, he says) so my father isn’t the type to stand up against someone who puts on the Big Dick In Charge act. If that Big Dick is affiliated with science? No contest.

At least in the beginning.

So this famous research hospital convinced my parents to subject ourselves to a barrage of study. Mostly, of course, that was me. Why me? Because I was a wee child and they could study my growth pattern. So they said.

So, for the next four years, I was an object of medical study.

I will tell you three instances of what happened during that study. I don’t remember much else, and neither do my parents. The few times I brought the subject up, they had difficulty recalling any details of those four years. My parents twist their faces into strained concentration and say “I don’t really remember… was it only one week?” and specific events during those four years bring “Did that really happen?”  while they try to find a shinier and brighter side of it all “remember we would take you to Baskin-Robbins afterwards?”

I know it isn’t a real questioning of my memory, but a distancing of their own culpability. Of course, I do not blame them, but I am a mother, and I know my absolution is little comfort.   The study happened and we all know that.

In the beginning, the doctors convinced my parents to leave me in their charge for a week. Maybe two weeks, I can’t remember. What I do remember is bits and pieces, obviously.  I was four. I had been living with my dad and (step)mom for barely a year when this began. They tried to explain to me that it was temporary, that they would come visit me every day and I would be fine but, you know… four years old.

My bed was in a huge auditorium sized room with at least twenty other beds and cribs all in the same “room”. I remember it was huge and weird because the walls were wood panelling halfway up but the doors were heavy steel.  The bathrooms were standard public style bathrooms, through a door on the right at the end of the room but on the left side was where all the medical people went in and out. Sometimes they came out to be with you, give you games, food, take your vitals, but sometimes they came out to take you behind the big steel door with them. This wasn’t ominous per se, because everyone who went back there came back out, of course. At least the kids I was familiar with. But behind that door, you never knew where they were going to take you. Every day, it seemed I went to a different place. So I dreaded being called behind that door.

Let me tell you why.

One time they called me behind the door. I ws taken to a standard medical exam room. I was stripped and robed and told to lie down on the table. Then whoever brought me in left. After a few seconds of waiting by myself, (hell maybe someone was in the room but i don’t remember them speaking to me) a line of people came filing in to stand around the table I was lying on and look at me. They all wore surgical face masks and caps and gowns. All I could see were eyes. and gloves. The masks were talking to each other but I couldn’t understand them at all. Their muffled speech made no sense to me at all. Someone else was talking to me, a woman, from behind all the masked people and she told me to hold still. One of masked people grabbed my arm and jabbering his muffled dialogue all the while stretched my arm out and lifted up a needle to put in it.

I freaked.

I remember, very clearly, that eventually they got what they wanted (they were drawing blood) by having three people hold me down while the main mask screamed his muffled words at me. Of course I watched that needle go into my vein and felt it so sharp I thought they were trying to kill me. I screamed, I cried, I howled bloody murder. All the while the main mask was screaming right back, and the woman behind them kept chanting “hold still! hold still! It’ll hurt more if you keep moving!”  Eventually someone got the bright idea to terrify me: they said “If you don’t hold still we’ll do it again”

I held still after that. But I cried so hard I couldn’t even tell my parents what happened when they came to visit.

Another time, they called me behind the door. I asked if I was getting a shot. The nurse was irritable and told me “no, you never got a shot int he first place! Besides, you’re just getting an x-ray!”

Ah the x-rays.  Frankly its a wonder I have gotten pregnant so many times from all the x-rays I’ve been given. We’ve got quite a few in my parents house. I have a set myself too. My x-rays are probably floating all over the country from hospital to hospital in some dusty old box of crap nobody wants to open because of  HIPPA.

So x-rays weren’t so bad. Except you had to be naked. And x-ray machines at that time were half the size of the room and made entirely of metal. Nice freezing cold metal. Also, there were times they wanted x-rays from angles I was not capable of complying with, so I’d be strapped in and the machine rotated until they got what they wanted.  Not so bad. Just tedious. You had to hold your breath for a while too. But x-ray techs were fairly nice guys and nurses were happy that I wasn’t screaming or crying so usually after the x-rays we were done and I could go back to the big room of beds.

Like I said, there were a lot of other kids there. They were there for many different reasons. Some kids were sick and were there to get better. They didn’t do much except sit in bed, get visited by the nurses and occasionally go through the door.

But some kids were a different kind of sick.

I made a friend in that room.  A little boy, I think his name was Tommy, and he was bald. I asked him  and he told me because he was sick. I think Tommy must have been a lot older than me, maybe seven or eight, but we quickly became friends because we liked the same things: cars that go fast and batman. Most times Tommy couldn’t get out of his bed so I’d bring things to him and sit on his bed. Sometimes he’d ask me to just play on the floor next to him because he was tired. I never asked much about his sickness. But I remember the day he was gone.

Children disappearing wasn’t unusual. I’d notice kids missing before. Sometimes the answer was “oh she got better so she went home” and sometimes the answer was “his treatment was done so he went home” every now and then it was “he’s in another part of the hospital now, he’ll be going home later”

Tommy was the first time they didn’t mention “home”. “He’s gone” was all they told me. I thought they meant he went behind the door. I waited for him to come back out of the door.  When bedtime came, I asked again; no one stayed behind the door after bedtime. “he’s gone, honey” was all the said. So I went to bed not understanding where he was.

I think I dreamed he came back. He was not in his bed, he was walking. His face was bright and ruddy, like he’d been running and he came in holding his mother’s hand. He ran to me and hugged me. It felt so good to hug him. We played on the floor and ran around the beds in the room.

Then I woke up and he still was gone. My parents came to visit me and I asked them when Tommy was coming back. My mom started crying and couldn’t speak. My father finally told me. I didn’t understand what “dead’ meant. But I knew by my father’s tone that Tommy wasn’t coming back. Ever. So I cried. And I believed the door was why he was gone forever. I hadn’t seen him go through it, but I knew that door had swallowed my friend up and wasn’t ever giving him back.


There were other memories of that study. Other memories of that hospital stay. Maybe not nice memories, but not so bad ones. The time I got my blood drawn and didn’t even notice because they put me in the x-ray room on a blanket and a nurse talked to me about my favorite books while the phlebotomist did the draw on the other side of me. They gave me a lollipop for that.

I remember having other friends too. I don’t remember their names and it seemed like no one stayed as long as I did but I did have other children to play with. I remember getting in trouble all the time because after lights out, I would tell funny stories to all the other kids from my bed whenever the nurse left the room. We tried to laugh quietly but it never worked: she’d hear us and come back in to shush us all. Didn’t take long for her to figure out it was me every night. One day a nurse I liked very much made mention of my stories. She looked at me smiling and told me I was making the other nurses mad so I needed to tell the stories quieter.

After Tommy was gone, I remember drawing pictures over and over. I always drew the same picture: my parents coming to get me. Sometimes I drew my dad and my step-mom. Sometimes I drew my biological mother. Sometimes I drew all three of them.

Sometimes I drew Tommy going home with me.



I’ve been having some wonderful and amazing discussions about my post. (don’t play dumb, you know which post I’m talking about!)  I wish I could post everything that’s gone on… at first I actually was going to try but then things got so long and complex wiht different people coming in and out… it was wonderful!

I feel like I’ve helped my friends in some ineffable way. Not that learning all that about me personally was some great gift I bestowed (I mean I’m awesome and all that but ) but just the general opening up about a history I’ve carried all my life without much thought (other than an occasional funny story told to some specific person as warranted)

Now its a history that I’m sharing with people and we’re all growing more knowledgeable about each other in the  process. I hope my friends will choose to post a comment or two here… maybe encapsulate what their feelings are?

In any case… I promise tomorrow is another story. Its a good one too.

a little bit of catch-up (because some of you aren’t on LiveJournal)

The basic facts:

  1. I have this genetic condition. So I’m 4’7″ yes you read that right FOUR FOOT SEVEN INCHES. I’m 46 yrs old as of this writing.
  2. I have given birth four times
  3. three of the four were necessary c-secs
  4. I also suffer from a fun form of Herpes in my spinal fluid. That would be not such a big deal except what they don’t mention is that sometimes it can progress to a near-fatal form which I actually did have once.


Growing up with a genetic condition that makes you look like alien from the planet bizarro-dwarfland (my features are the opposite of formal Dwarfism: short trunk, normal limbs) means every time a medical person even gets near me I am subject to a barrage of questions all designed to satisfy their curiosity. Being as I inherited this condition from my father who is hale and hearty as we speak, it clearly poses little, if any, medical problems. Sure there’s practical problems galore (most of which have to do with just being super-short) but oddly enough, they never ask me about the practical problems of being a walking freakshow OR being super-short. Some people like to make jokes which I generally ignore or grit my teeth and bear. Not because I’m so super-sensitive about being small but because trust me, by the time I was 13 I’d heard it ALL. Being 46, now I’ve heard it all at least ten times.

But hey, why not share? First, the secular questions in order of popularity:

  1. “what’s WRONG with you?”
  2. “what HAPPENED to you?”
  3. “YOU’RE SHORT!”
  4. “are you a midget?”
  5. “wow, I really dig short women”

The creativity alone just knocks my socks off, right? Now you know why I have a FABULOUS eye-roll.

Now the medical questions:

  1. “have you ever been screened for scoliosis?”
  2. “turn around and touch your toes”
  3. “can you move your neck?”
  4. “does it hurt when you move?”
  5. “so have you ever heard of Klippel-Feil?”

Now, you may think all of those things are innocuous. But how innocuous would you feel if you were in an urgent-care clinic trying to get an x-ray of your HAND because you thought your wrist was broken and before the tech will set up the x-ray machine some PA starts barking at you to touch your toes and let him thump on your spine? Yeah, not so much. Especially when you’re in your 20s and have been getting spinal examinations since you were born. Not so innocuous. But people who have physical deformities develop a certain lassez-faire about being interrogated by medical personnel. We also develop a certain aloofness about strangers accosting us with dopey questions. At least strangers are trying, in a very inept and awkward way, to gain some understanding (well except for those Romeos who try to win my heart by telling me they love short women but we’ll get to that later) we can forgive that; everyone has curiosity and how DO you go about gaining understanding of something so incredibly outside of your world without sounding dopey? We understand. We may not always be in the mood to tolerate the lumbering fool who interrupts us when we’re out having dinner with friends to scream “OH MI GAHD YOU ARE SO ADORABLE!” but we do, under it all, understand. In stumbling forth and saying goofy things (that are often regretted right away, much to our amusement) strangers are attempting to humanize what seems so inhuman. They are trying to put a person behind that strange physical presence. That’s why we try to be patient and tolerant. That’s why the best question to start off with is “hi, what’s your name?” (at normal volume, please)

Medical personnel, yeah not so much. Yes, I know they are curious too, probably even more so, but their curiosity is not an attempt to humanize us. Their curiousness is quite the opposite: it is an attempt to label and categorize us which is to say, dehumanize us. Medical personnel will go out of their way to start grilling and interrogating in order that the outward physical form they are so curious about can be studied and dissected (mentally) and labelled properly and added to their store of objective knowledge.  So one develops a very different attitude when dealing with medical personnel than with strangers. I understand curiosity, both personal and professional and I most times will try and answer the questions barked at me. In many cases, I know the medical person has a job to do and they don’t and can’t know that I’ve answered those same damned questions at least twenty times a year every year since I could talk. It’s at best tiresome, but I can handle tiresome. So when it’s in the course of dealing with medical issues (which as you can see from the above facts, I’ve been picking up over the years much like I collect Star Wars paraphernalia – just a lot less fun) I will listen to and answer the basic questions. Sadly, most medical personnel are not satisfied with just the basic questions. Which would be fine in many cases.

However, when it comes to medical anomalies such as myself, they do not observe professional boundaries. The example with the urgent care PA bursting in on my x-ray is only one such instance. I could not begin to count the number of times I have been accosted by medical people who had absolutely nothing to do with me, my medical case or my current medical crisis and expected to achtung! to their orders no matter who they are because they are, after all MEDICAL PEOPLE and it is my job as a patient to answer every question they can think to toss at me. It does not matter if they happen to be walking down the same hall as me or if they happen to be a proctologist visiting his pal who specializes in eye-surgery; if I am there and they see me, they get to ask questions and order me around. It’s as if my mere existence in their visual field is sufficient permission.

…That’s the ones who at least have the wherewithal to interrogate me.

Others, simply make their assumptions and put them in my record without knowing anything about me or speaking two words to my face.

Another example: I was pregnant with my first child. I was nervous, as any expectant mother, but I was not particularly worried about my condition or being pregnant. My family physician who I had known from age 8 had assured me when I was a teenager “don’t worry, you have plenty of room to carry a baby like anyone else. The body makes room. You will be fine” and to doubly reassure me, she found some obscure medical texts of some women in Europe with the same condition who had given birth.

Well I was in a practice that primarily used midwives. On my third visit, the midwife told me I needed to meet with their supervising doctor, all perfectly normal, nothing to worry about everything was fine. But I wasn’t so sure. You see, the midwife had never, not once, asked me what my condition was. And that was damned odd. But not entirely unknown either. At that point (I was 24) I knew what that probably meant: she had already decided she knew what my condition was and wasn’t sharing her conclusion with little ole me. Considering I had never met this woman in my life before I got pregnant and I had only moved to that state two years prior, I figured it was highly unlikely she had any records or whatnot from my family physician. Especially considering they never asked me for releases.

So one visit, I was waiting for my midwife and I opened the exam door, grabbed my file from the folder on the wall and started reading it.

Wow. There were in total 15 pages written up by two different midwives about me. And none of it was true. It was all conjecture on their part. There was only one or two recordings of my visits, everything else was their supposition about my condition. None of which had they discussed with me. None of it. And mostly, it was all wrong too.

So when the midwife came back, I let her have it. I blasted her up and down and threatened to rip the file to bits. I threatened to walk out of their clinic. I threatened to have my baby in a hotel room. I threatened to call the Local news. I scared the holy hell out of her.

That story ended well…. eventually. There was the whole meeting of the supervising doctor, who wanted to schedule my c-section right then and there despite my protests. There was the firing of that doctor and our decision to hire a midwife of our own choosing. There was the hospital HR woman who begged me to fill out multiple complaint forms since that doctor had a reputation of being a horrible asshole. Then there was the visit we had after my NINE POUND son was born by NATURAL childbirth and watching that doctor and the old midwife grit their teeth as they smiled at us.

…yeah, some stories have good endings.

But most of my stories unfortunately end with me screaming at someone and walking out. OR me gritting my teeth and putting up with someone treating me like an amoeba in  petri dish because they had some medical knowledge or expertise I needed to utilize once they were done barking questions at me and thumping on my spine while I touched my toes. Such is the life of the physical freak with an “orphan” disorder. Yay. You get used to it. Kind of.

I will interject here one striking difference: Nurse. And I mean Registered nurses. Aside from the nurse-midwife I mentioned above (and I don’t know that she was an RN, I strongly suspect she was not) RNs have always been nothing but wonderful and respectful of me. Sometimes they ask me about my condition, sometimes they don’t. Sometimes its because they have to and sometimes its because they’re curious. They never pretend its one when its really the other and they are always so very human about asking. I love every RN I have ever dealt with. Really. I don’t know why, because I’ve had LPNs who weren’t so kind. I’ve had PAs I wanted to strangle. I’ve had basic techs who could not be respectful if you stuck an IV in them and pumped them full of oxycontin and phenergan. Some people are just rude and joyless. But every single RN I know of has been wonderful.

So now you know why I hate doctors and am very suspicious and wary of all medical personnel, except RNs. God bless RNs.

Don’t worry I’ll hit this subject again. Good night.