Jake's Life Story:
He's a 2-year old!

Well, this is a difficult page to write up, partially because I need to catch up on two years of life, and also because of the emotional intensity of that short time.

Some Effusive Boasting

Jake has grown into an incredible kid. He loves books, playing with his kitchen set, blowing bubbles, and finds TV boring (yay!). Let me start with the parental bragging now so I can get it out of the way:

Within a couple months of his first birthday, Jake was already putting words together, though they tended to consist of things like ``hot bus'' (any child psychologists out there want to grapple with that one?). One of his first words was ``moon'' (warming his astronomer father's heart), and he was even able to find and point out the moon whenever it was out, day or night. Now he says things like: ``I made this duplo tower for my daddy. He works at his office and teaches at the college.'' Pretty damn amazing to me.

At 18 months, Jake recognized most of the letters of the alphabet. Now at two years old he also counts to ten, knows his colors, animals (and sounds), and communicates quite well. It is still amazing to me that I can have a conversation with him, since I still picture him as the baby-blob of a year or more ago. Even more amazing to me, is that he has a pretty strong sense of humor. He makes jokes! Kim and I love him so much more than we imagined we would. The kid's a genius - no surprise to us, since being parents has sucked about 40 points of IQ out of each of us, and we figure those IQ points had to go somewhere.

Some Details

Jake celebrated his first birthday on May 6, 1997. The poor dude was sick, probably thinking: ``Geez, does this happen every birthday?'' I was not prepared for the high level of empathy I would feel for a sick or hurt child. We are considered ``lucky'' that Jake didn't get his first ear infection and get antibiotics until he was 19 months old (its so sad that kids get sick so early and end up on antibiotics at such a young age, yet it is considered ``typical''). I remember listening to Jake cough in his sleep from a runny nose. I've had runny noses for 35 years, no big deal, but when I hear him with one I think it must be the worst thing on earth. He's probably lying there thinking, ``Ah, great. I'm going to be a mouth-breather for the rest of my life.''

August 1997 was a busy month. Jake was weaned on August 18th, having his last suck at the breast for the next decade or so. Jake also started childcare this month, kindly bringing home all the new germs from his friends to share with mom and dad. My favorite description of 2-year olds: petri dishes on legs.

As we mention below, for a few reasons Jake got off to a slow start for walking. Jake started standing on his own at the end of October (at almost 18 months), and took his first steps a week after that. Even then, he would walk only from one person to another. But on December 31st, 1997, at the age of 20 months, he officially became a Free Range Jake when I ``casually'' asked him to get a book in another room, and he did! People said, ``Oh boy, you have a toddler. You're in trouble now!'' But I simply felt the exhileration of his newfound freedom and was thrilled at entering this new phase.

Dem's da breaks, kid...

But, then comes the first major challenge in our relationship with Jake, one that exemplifies the essence of all parental fears. We discovered that he has a very rare disease called Osteogenesis Imperfecta (OI), also known as ``brittle bone disease''. As you might glean from the latin term or the colloquial name, this is a condition where the bones do not form in a normal fashion and can fracture easily.

Our first hint, though we didn't know it at the time, was Jake's eyes. They are blue. So what? Well, not only are the irises of his eyes blue, but the whites of his eyes (his sclera) are blue. This also was noted by a few folks, and we mentioned it to Jake's pediatrician (his former pediatrician). We asked him, ``Don't the whites of Jake's eyes look kinda blue? Is that unusual?'' He looked at us with a rather patronizing smile and said, ``Really? They look fine to me.'' (with the tone and implied subtext: ``Sigh...first-time parents...always over-concerned about imagined anomalies'').

Our second hint was when Jake was about 14 months old, and he had what seemed to be a minor fall. Jake was just starting to show interest in walking in July (at the age of a year and a few months), when most of his cohorts had already moved into toddling. He was standing against a couch and slid down to sit on his bottom and must have twisted his knee. He was in continuous pain and would not put weight on his leg. Parental Panic. We (as over-concerned parents, imagining the worst) finally took him to the emergency room for an x-ray. And the doctors wanted more x-rays. And yet more x-rays. The doctors could not find any obvious problem like a break, but they also couldn't localize where his pain seemed to be coming from (apparently anywhere between his hip and his ankle). Then, while looking at yet another of dozens of Jake's x-rays, one of the doctors emitted one of those oh-so-casual-yet-puzzled ``hmmmmmmm...'' sounds that can make a parent's heart become instantly digested. The doctor thought that Jake's bones seemed ``light'', not as dense as usual. ``Not anything to be concerned about, but...''

We don't know if he knew about or suspected OI, but the he referred us to an orthopedist, who also looked and hmmmmm'd at Jake's x-rays, agreeing that the bones might look a bit light, but also hmmmmmm'd at things that we had noticed before but never thought much about: Jake's blue sclera, the fact that he hadn't started walking yet (all the other kids in his birth group had by now), the shape of his head (or, as the orthopedist wrote in his notes: ``helmet-like head''...!!), and his over-limber joints. More hmmmmm's followed with questions about any family history of bone breaks (nope), early tooth and hearing loss (nope), and other things. For the first time we heard the mention of this rare disease (disorder? condition?) called Osteogenesis Imperfecta, for which these are all symptoms. He gave us copies of some rather old medical books about OI.

Going home and reading about OI brought all the stereotypical parental fears to the surface. But it seemed that most of the literature was concerned with the more severe types, and since Jake had not yet had even one fracture (that we could tell), we eventually put those thoughts into the background, idealistically hoping (denying?) that maybe we might never have to deal more directly with OI. As I wrote in one of my annual letters:

After more visits and going to Denver Children's Hospital, we came to the conclusion that Jake had OI. This is a genetic condition where the bones don't calcify sufficiently. There are many levels of severity, and, luckily, Jake has the least severe type of OI. More severe types can involve repeated bone breakage, hearing and tooth loss, deformation, and all sorts of horrors that are exactly what parents-to-be fear as a pregnancy develops and their child is born. Also, OI does not progress from one level to another, so it won't get any worse for Jake. His condition is so minor, that the doctors feel he may never experience any OI-related problems, though we may, perhaps, want to steer him away from high-impact activities like football. We feel so relieved that things weren't any worse, and know how lucky we are when we think of parents with kids with more severe problems. Geeez, this having kids is such a scary crap shoot, I'm still amazed people go though it all the time.

It's amusing (in a morbid way, I guess) that the one feature that people comment on the most about Jake, that his eyes are so striking and beautiful, is due to this genetic disorder.

Then, on Thursday, March 12th, 1998, we got a rude awakening. Here is the e-mail I sent out the next day:


Jake is having some ice cream (at 10:30 in the morning...well, one way to get your parents to say "yes" to anything you want is to have a major injury), so I thought I'd send out a quickie note.

Jake, Kim, and I were walking through the lobby of my building around 5:30 in the evening (March 12), and Jake hit the left side of his head on a table, knocking him down to the right. Seemed like a typical, minor kiddie fall, nothing particularly forceful. He cried for a while, longer than usual for just a boo-boo on his head. He then started saying ``knee hurts, knee hurts, knee hurts'', grabbing at his right knee and keeping his leg flexed, refusing to straighten it.

We had no clue if this was a twisted knee (which we assumed might be the worst-case scenario), or his being hungry and tired, or that he was just ``in the groove'' of crying from his head bump. This lasted as we carried him, then he asked to be put in his stroller, and then cried ``knee hurts'' every time the stroller went over a bump. By the time we got to the car, we decided that we should take him to the hospital, even though we were sure we were being over-reactive parents.

Got to the emergency room. Sat around. Moved to another room. Sat around. Jake still crying in pain, ``knee hurts'', whenever he moved or we moved him. Finally got into x-ray room. More crying in pain as we position Jake's leg for the proper views. At this point, Kim and I were entertaining the thought that maybe it's as bad as a small crack in a bone. The x-rays came out in a few minutes, and we asked the technician how it looked, and did he see anything. He said, ``Yes, I do. Why don't you take him back to the room and a doctor will be in soon.'' Well, the fact that he had only glanced so briefly at the x-ray, and then would not elaborate made us increase our estimate of the worst-case scenario.

The doctor came in and showed us the x-rays. Jake had a clean, angular break completely through his right tibia, the large bone in his lower leg. To me the break looked huge, a gap of at least 5mm between the two parts of his bone. The break was in the lower part of the bone, near (but not including) his ankle. I've never felt such a complete wrenching of my heart...an extremely descriptive word of the tightness, twisting, and sympathetic emotions I experienced looking at those x-rays realizing that this was how the inside of Jake's leg looked (I've never broken a bone before, nor have ever been around when someone did).

Jake got a shot of Demorol, then a pediatric orthopedic doctor came to visit, talk to us, and put on a full leg cast. It goes from his toes to his hip. More parental anguish at seeing your little child in a huge cast. This cast has cuts in it to allow for expansion due to initial swelling, then next week, they will take off this cast and put on another (same size, but no cuts). The doctor said it would take about 4 weeks (maybe four to six depending on if he is a fast or slow healer) until he would get the cast off, but as time goes on, he could cut down the cast as Jake heals, so it won't be a full leg cast for all that time.

We got home around 9:00. Jake (and we) had a fitful night's sleep, since he couldn't roll over and move around as he slept. I slept on the floor of his room to just reassure him when he would wake up through the night.

This morning, after some rough starts, has gone quite well, considering. He is sitting up (which we wondered if the leg cast would make too uncomfortable), and has been playing with toys and eating. No complaints about his leg for a few hours now. He even has been kinda playing with his cast (poking at it, comparing it to his other leg, etc.).

So, it's now logistics: how do we put him in the car seat? and so on. We are concerned that the minor manner of his fall causing such a major bone break might be a function of his Osteogenesis Imperfecta (OI), and we wonder if he is in for more down the road unless he lives a sheltered life. The ortho-doc agreed that the break could be due to OI, but he also said that he sees many, many 2-year-olds with broken bones from seemingly minor falls. So, I guess we can't be ``sure'' until, arrrrgh, until a similar event of a minor accident results in a bone break.

And he's being so sweet and playful right now (and the only drug he is on is children's motrin [ibruprofin]). It's hard to believe that he broke a bone. Well, hard to believe until you notice the huge, honkin' cast on his leg...

So, that's the news. Thanks for the calls and e-mails. Right now, we are fine, and there isn't anything we can think of that we need, but we appreciate all the offers. We welcome all visitors to come and join us in devising stationary games.

j "What do you do when your child cries 'owie,owie,owie,owie' all night?" p

Well, that pretty much describes it. Jake wore the full-leg cast for three weeks, then they put him in a short (below the knee) cast for three weeks. By the end of that time, we was putting weight on the leg, and the x-rays showed that he was healing well (the periostium [sp? The outer lining of the bone] had formed nicely) had so it seemed time to remove the cast. Within two weeks Jake was walking again, and we sighed a short sigh of relief...too short. Here is an e-mail of May 7th:

I don't have a lot of time/energy, so this is brief.

Jake hurt his leg again yesterday (his birthday...bummer). He and Kim were in a kid's store and was on a very low step of a plastic slide, Kim looked away for a second, and then he was sitting on the ground crying. No one actually saw what happened. Since he was reacting like he did last time, we took him to the emergency room. Waiting. Dr. comes in. Orders X-rays. Waiting. Demorol. Waiting. X-rays. I take a quick peek as they are developed. Nothing obvious like last time. That's a little relief. Waiting. Dr. can't tell anything conclusive about a new injury without comparing to previous x-rays. They can't find them. Waiting. Kim and I get on the phone and track down the old x-rays, tell the emergency room folks we are taking the x-rays with us. We go to the orthopod, Kim and Jake wait there while I go to the Kaiser Clinic and get the other previous x-rays. Waiting. The specialist sees nothing conclusive, but maybe one or two "possible" fractures. Suggests putting Jake back in a cast for a few more weeks. Kim and I cringe for Jake's sake. We decided to take him home (since there is no obvious fracture) and see how he does. We have his birthday party at our house. Exhausted Jake falls asleep really early, before presents or the cake. Bummer birthday party for the kid! And he was soooo looking forward to it for the last few days. Rough night. Jake wakes up a few times when he tries to shift in bed, and cries "owie" a lot. We go back to the orthopod today and get a cast for Jake. Even if it is ``just'' a sprained ankle, it is painful enough and vulnerable enough that a cast would protect it and help the healing.

So, Jake has a red ``short cast'' on. And he was just getting back into walking and being happily mobile just the last day or so.

Everyone is a bit tired and stressed.


Jake has had that cast on for two weeks, and the doctor strongly recommended leaving it on for two more weeks to be sure things were as well healed as possible. We wanted the cast off, partly because we just felt bad about Jake being in a cast for so long (apparently we felt worse about this than Jake who seemed remarkably upbeat about the whole thing - I guess he doesn't know any better, and probably assumes that everyone gets casts when they turn two), and we were concerned that Jake would not walk in the cast; we knew that weight-bearing was the best therapy he could have. The doctor argued that Jake would be more likely to put weight on the leg if he had the structural support of the cast (and a well-healed fracture), and it appears that is true. Jake is now quite mobile in his cast, and it warms our hearts to see him walking. Now he tells us that when he gets his cast off, he wants to go in the swimming pool.

We are still in the twilight zone of not knowing how severe Jake's OI really is. Will he get fractures every few months? Once a year? More? Less? It will take a couple more fractures or a couple more years of no fractures to really get a better feel for this. In the meantime, we are trying to learn as much as we can about OI. It's so rare that, on average, we could expect that there might be one or two other people in the entire city of Boulder with it. That makes it pretty hard to find information and support groups.

Though all this, I have found the internet to be an invaluable resource. Check out the OI page I have assembled. We have discovered medical, social, and personal support all around the world, offering insights and information about OI that we would NEVER have been able to find nor access a few years ago. All the information is a little scary, but ultimately provides us with the strength of knowledge that we can get all sorts of help, advice, and in-person stories to help Jake and give him the best quality of life possible.

I didn't mean to make this part of Jake's life story such a focus on his OI, since we want him seen as a person rather than an ``OI patient'', but it is and will be a constant factor through the rest of his life, and understanding it is important for all of us.

I'll add more installments of Jake's Life Story when I have some breathing time. I can't possibly keep up with typing all the neat and fun stuff that Jake learns and does on a daily basis, but hopefully I can give y'all a flavor of his and our lives.

Okay, aparently I've had time to breathe, so let's mve to the next Chapter of the not-so Terrible Twos.

Joel Parker (joel@boulder.swri.edu)