Osteogenesis Imperfecta

OI Regional Conference – Portland edition.

Last weekend Tim and I attended a regional conference in Portland organized by the Osteogenesis Imperfecta Foundation, an organization that supports those living with brittle bone disease.  I didn’t really know what to expect, and to be honest, I can’t say that I learned anything mind-blowing with regard to Jack’s condition.  After all, I scoured every corner of the internet to find information on it within the first month after his diagnosis so I feel pretty informed.  Still, it was overall an pretty awesome experience for a number of reasons.

First, the presenters were primarily medical professionals who treat individuals with OI, far more OI patients than any of our providers treat.  Many of them have a particular passion for this tiny segment of the population and for finding treatments that will improve their quality of life.  They’ve also been involved in some of the groundbreaking research that has enabled certain “experimental” treatments to become mainstream.  So mainstream that our doctors here in Boise knew precisely which course to take, a course that has enabled Jack to far exceed our expectations for mobility and fracture reduction.

We had several opportunities to sit down with a few of these doctors and just pick their brains on the best course of action to take with Jack in the future, which armed me with significantly more information than our local providers have been able to give.  Our providers have been great, to be sure, but having treated a much smaller population lack a breadth of experience that I felt these medical professionals had.

Second, it was fantastic to see other individuals with Osteogenesis Imperfecta with a wide variety of health limitations.  Several people did not even appear to have the condition, aside from a bit of stunted growth perhaps.  But they could simply pass as short.  Others were what I would describe as stereotypical – with pretty much every indicator of the condition.  Some were wheelchair-bound, others spend a portion of time in a wheelchair but could also walk, one little girl even sported a pink cast for her most recent fracture.  It was heartwarming to see how resilient these awesome people are – their commitment to maximizing their lives and improving it for others with the same condition.  Several are faithful attendees of these conferences and have a deep commitment to raise awareness of OI so that this disease does not go ignored by the medical community simply because of its rarity.  They are weak in bone but strong in spirit.  They are truly inspirational.

A small number of them had a bit of a chip on their shoulders (understandably).  They had been treated as guinea pigs in the early days of their disorder, and were weary of participating in studies that may/may not be beneficial to them (or anyone else, for that matter).  They’re tired of the pain, tired of doctors who don’t understand, tired of insurance companies and hospitals bickering over who should have to cover the cost of their care.  It was sobering to see their struggles and to feel their frustration.  It filled me with an enormous sense of compassion for the crummy hand they’ve been dealt and equal admiration for how they weather it all with grace and grit.  They are a special group, and they deserve every bit of praise for enduring their condition so resolutely.

Finally, and this was the benefit of attending that most surprised me, I was renewed with a sense of gratitude for the factors in our lives that have made this whole OI experience much easier to bear.  We talked with several parents of kids with OI.  One family, in particular, approached us and asked us a bit about Jack (who was not with us).  They said, “We couldn’t help noticing based on some of the questions you’ve asked during the presentations that you have a son with OI.  How old is he?”  “Almost two,” we answered.  “Wow,” they replied.  “How are you doing?”

It was spoken with a tone that implied the heaviness of the diagnosis, an offering of deep empathy and support, and a slight skepticism that one could be doing well under the circumstances.  And, to be fair, their son appears to have a more severe type of OI than Jack does, though his initial diagnosis was pretty much the same.  When we indicated that we were doing great, and we showed them a video  that my sister Jill had sent us the day before (she was helping my mom take care of the kids at home), they were baffled.  Not so much at the video of Jack jumping and dancing around our family room, but that we were so okay with the fact that he has brittle bones.  It sort of caught me off-guard.

Certainly, those early days and weeks after Jack broke his femur were some of the most difficult of my life.  Occasionally, they almost feel like a dream.  I can reflect cognitively on how challenging they were – the strangeness of caring for a newborn with a spica cast, the fear of mishandling Jack and wondering whether each prolonged crying session meant he had broken another bone, the foreboding thought about what the future might hold for Jack and how that would change the dynamic in our family.  It was tough stuff, to be sure.  But even as I think back to those days, I can’t really feel the pain – I feel mostly gratitude.

They say hindsight is 20/20, but even as I was in the thick of my experience breaking Jack’s femur and all that followed, I was surprisingly lucid despite my incredible fatigue (I was, after all, a 38 year-old mother of a fragile newborn and four other kids, to boot.  Bone-tired, I tell you.)  I had the presence of mind to process all the medical jargon the doctors were throwing at me, to keep my head when they confirmed the worst of my fears, and to put on a happy face for my kids when we had to explain to them what it all meant.  I wrote down a list of the “tender mercies” I could see – evidence of the Lord’s love for me and His assurance that all would be all right.  There were too many “coincidences” to be coincidences.  He was mindful of us and assisted us in viewing this whole experience with an eternal perspective – a gift that I don’t think I fully appreciated until we talked with this couple at the OI conference.  I shudder to think of how harrowing their own experience had been, without the perspective a firm belief in God and his eternal plan gave us.

I also could not reflect on those early days without appreciating the overwhelming support we received from our family, friends, neighbors, and church congregation during the weeks after Jack’s first hospitalization (and beyond).  One of our next-door neighbors was devastated by the news, reflecting on it again and again, and took the time to bring us meals and shovel our driveway despite the multiple heart attacks he had suffered in previous months.  Several sweet friends from church came in and cleaned my house, a service initiated by a mother whose own significant family trials at the time were swallowed up by her selfless desire to lighten my load.  A few of my mission buddies, who live from Washington D.C. to Hawaii pitched in for gift cards so that we could buy pizza, which we did for months and months afterward – thanks to the generous sum the cards contained.  I did not cook a single dinner for a month thanks to meals brought in, I didn’t have to purchase diapers for four months, my kids got rides to school without my having to lift a finger for who knows how long, people did my laundry, they referred me to medical resources, they fasted for us, they prayed for us.  The hours others spent on our behalf by those far and near was innumerable.  And it was truly humbling.

So, when this couple asked how we were doing, it was eye-opening for me.  It made me wonder at the enormous burden that was eased immeasurably by the service of those around us.  And it also reminded me what a gift it is to know that this life is simply a small portion of eternity, that our experiences are opportunities to learn and develop Christlike attributes, and that Christ Himself rose from the grave so that our imperfect bodies may one day be resurrected.

So how are we doing?  Thanks to that knowledge, and the many loving individuals who serve us daily, we’re going to be just fine.  Mighty fine.

Thank heaven for good insurance.

October brought more than gorgeous fall foliage and fruit harvest.  Lily’s seizures had returned, though different than before and it was time to get some diagnostics on what was going on.  We scheduled an EEG to figure it all out.  A week later, we got a call from the technician who administered the test, informing us that all of the measurements taken had completely disappeared from their files.  Wait, what?!!  She said that, in her many years of employment, EEG results had only disappeared one other time.  Lucky Lily,  She got to go in twice, which is no small thing because it means having to deprive oneself of sleep before the test in order to induce seizures.  She was a pretty awesome sport about it, thankfully.

Jack also got a pamidronate infusion during October.  He was an absolute champ and barely whimpered when they inserted the IV needle.  I couldn’t believe the change I saw in him and it was heartening to see him mature before my very eyes.  That was the easy part, though.  For three days I got to chase the active toddler around with an IV pole – not exactly a cake walk.  At least he can now sit through an episode of Daniel Tiger’s Neighborhood without interruption.  For once I am truly thankful for screen time.

Wishbone Day 2017

I meant to post on May 6th, which was Wishbone Day, but between soccer games, Saturday projects, play dates, concerts and a mommy/daddy/daughter date with Eve, the opportunity escaped me.  Still, the entire week is OI awareness week, so I figure I’m still on time and can call it a win.

We all wore yellow on Saturday to raise awareness of osteogenesis imperfecta, the genetic bone disorder with which Jack was born.  We are still learning about OI ourselves, and hope to participate more fully in raising awareness and improving the condition of life for the individuals affected by this rare disorder.  Lily wants to become a geneticist and find a cure for OI, so there’s that.

When Jack was diagnosed over a year ago, after suffering a femoral fracture at the tender age of one month, we were pretty clueless as to  what life would look like for our sweet little boy.  The type of OI with which he was diagnosed (Type III/IV) indicated anywhere between dozens and hundred of fractures in a lifetime, moderate to severe bone deformities, short stature, potential hearing loss in early adulthood, 50% chance of brittle teeth, etc.  We weren’t even sure if Jack would ever walk.

To be clear, we have never feared what the future holds for Jack.  Our understanding of the purpose of this life softens the blow of every hardship we encounter and we would go forward in faith no matter how severe Jack’s condition.  Likewise, our understanding of the purpose of this life demands that we recognize and are grateful for every way in which Jack’s condition has exceeded our expectations in terms of severity.  And it has.

So we still don’t know much.  Here’s what we DO know:

  1.  Modern medicine is glorious.  Without the regular infusions Jack has been getting to strengthen his bones, I dare say we would have seen a much higher incidence of fractures.  He’s only had one  in over a year.  As a side note, when we viewed the X-ray of his wrist after his recent fracture, you could see lines across his lower arm bones, much like tree rings, indicating bone growth.  Without pamidronate, the regular course of treatment for young OI kids, Jack’s limbs would be even shorter than they are.
  2. Jack is going to be short.  This comes as no surprise and we are, in fact, grateful that he is even ON the growth charts, albeit hovering in the 3rd percentile.
  3. Jack has dentinogenesis imperfecta, or brittle teeth, which is present in about half of OI patients.  He popped his first tooth at 6 1/2 months, WAY before any of my other kids had, which made me suspicious.  Sure enough, as his teeth have grown in, they have the telltale signs of a dentin deficiency, as they are discolored and somewhat translucent.  His dental care began at age 9 months and will prove to be rather involved.  And expensive.  We still think he has a winning smile.

4.  Jack has met all of his gross motor skill    milestones on schedule and is walking like a champ!  With increased mobility comes risk, so although we are thrilled that his bones are holding up under the weight of his body, we can’t help but cringe every time he tries to scale something.  Nevertheless, I would say he is the most cautious of all my toddlers.  It is apparent that he was blessed with a personality to match his fragile body.  Not foolproof, but to say we are grateful that he is not throwing himself off the top of the backyard slide (or anything else, for that matter) would be an understatement.

Jack is a bright, sensitive, sweet child who has brought a light and joy into our home that cannot be measured.  We are grateful for the concern and support our family and friends continue to demonstrate and look forward to many years of learning from the unbreakable spirit with which Jack has graced our lives.

The isolation of having a special needs child.

When I was pregnant with Jack I looked forward to the day I could join the local mommy workout group at our neighborhood church meetinghouse.  The other kids would be in school all day, I would have some pounds to lose, and we could incorporate it into our routine.  I’m very much a social exerciser-there ain’t no way I’m gonna bust my rear unless there’s someone else counting on me to be there or pushing me to do my best.

Alas, it was not meant to be.  As soon as we found out that Jack had OI, I knew that there was no way I could take him to an exercise group where energetic kids run around largely unsupervised.  It’d be like throwing him to the wolves.  I wasn’t willing to take that chance.

That isn’t the only concession I have made or will make on Jack’s behalf.  Contrary to when my daughters were young, Jack has never had a real play date.  I can’t really do “swaps” because it’s not exactly a fair trade to expect someone to baby my child so that her kid doesn’t inadvertently injure him while just doing what kids do.  The few times I’ve done social stuff during the school day, I simply bring Jack along and watch him like a hawk.  Which inevitably means my so-called social event ends up being pretty light on the social side of things.

I’ve also had to limit the amount of time I spend in my kids’ classes at school, an activity which has a fair amount of social benefits.  Toddlers are not exactly conducive to teaching art lessons so I’m relegated to leaving him with  dear friends with no kids (or really gentle kids)  at home to care for him while I support my older children.  Understandably, I don’t want to put these sweet friends out more than I have to, considering the huge hit to productivity it is to watch my delicate little boy.

I am lucky though.  We are comfortable enough financially that, if we need to spring for a sitter, our pocketbooks can handle it.  Consequently, our regular date nights haven’t suffered too much.  That has been a lifesaver and I realize that many marriages crumble under the strain of having a special needs child.  I suspect not having the time, money, or  energy to invest in maintaining your most important relationship might have something to do with that.

Still, during the daytime it’s just me and Jack and I’ve found it a little more complicated to foster relationships with friends (his AND mine) than it was when my girls were little.  Add to that the fact that all the friends I made at the time are no longer having kids and are knee-deep in teenage/school-age children probs.  Meanwhile, I’m being left in the dust with my lengthy to-do list, afterschool chauffeuring schedule, and a toddler clawing at my legs begging “up”.  The loneliness of it all can eat at a person.

Some of the questions I ask myself are, what am I going to do for preschool?  With my other kids, I ran a mother’s coop where we all took turns teaching.  Is that even possible or will I have to teach more often to compensate for the fact that the other mothers will have to hover over my child more than the others during free play time when she could otherwise just send them out for unstructured play?

Will I even send Jack to public school?  His height, bone fragility and discolored teeth might label him a target and I shudder to think of the possibilities of kids bullying him.

Don’t get me wrong, I LOVE having a baby in the house again(if you can still call Jack that).  I’ll save that topic for another blog post.  And I’ll survive.  I’ll make new friends, revive much of the wonder of having “littles” in the house again.  I’ll just have to go at it a little differently this go around.

Having a special needs child is a game changer, for sure.  While I am grateful for the tools and means with which to deal with this new set of circumstances, the isolation is real.  I have a new perspective and greater compassion for those who find themselves having to navigate a world that is not designed for anyone who does not fit the norm.

Another fracture makes it 4-0 for mom.

Jack broke his arm this week.  Considering the diagnosis we got over a year ago, I count it a huge blessing that he hasn’t had a fracture until now, particularly after some of the spills he’s been taking since becoming mobile.  After all, he doesn’t know he has fragile bones.  It was rather uneventful.  In fact, some of the spills he’s taken up to this point elicited louder gasps and subsequent examination of limbs.  He cried, I held him until he settled, then sent him on his merry way to get into more trouble, as all toddlers should.

Then he tried to use his arm to stand up.  It buckled.  He cried out.  Darn.  The next few hours made it clear that, though he could use his arm for non-weight-bearing movements, it was definitely broken.  Called the pediatric orthopedist under whose care Jack is, made an appointment to see him the next day, confirmed fracture and bam!  Blue cast for three weeks.

Kids are resilient humans.  Within 24 hours, Jack was toddling around like any 15 month old, even trying to climb the ladder to the trampoline.  Yikes.  We have had a lucky 14 months since his last break but it is clear that it will take a few years for Jack’s recognition of his fragility to catch up with his desire for mobility.  Pretty typical of any kid, really.  It makes bubble wrap sounds like a pretty great option, in fact.

Nevertheless, I’m pretty grateful, for a number of reasons:

  1.  I got to see the xrays, which displayed lines across the bones in his wrist, much like tree rings, indicative of the bone growth that each of Jack’s infusions has stimulated.  So thankful for modern medicine.
  2. Jack’s femoral fracture at one month old was such a traumatic experience for me(not to mention, for Jack) that I admit I had residual fear of future breaks lest they resemble the last.  It’s nice to know that some fractures don’t require a frantic rush to the ER and hours of uninterrupted pain and screaming on the part of my sweet baby boy.
  3. Three weeks in a cast is totally doable.
  4. Knowing that a simple fall while trying to climb on my lap resulted in a fracture confirmed to me that our trampoline is going, going, gone as soon as Jack figures out how to climb on it.  I think Tim especially had a false sense of security after 14 months without a fracture and toyed with the idea of keeping it and just strictly enforcing safety rules.  Nope.  There are simply some pleasures in life of which we will have to be deliberate in steering Jack clear.
  5. Before his break, Jack was mostly walking but falling back on his trusty bear crawl if he wanted a little speed.  Now that his arm is forced into a right angle for three weeks, he’s been relegated to walking at all times.  He’s a sturdy little fella on his feet now, presumably building bone strength in those short little legs of his.

 

The light of our lives.

Shortly after Jack got off his first cast at eight weeks old, I strictly enforced tummy time.  Owing to the fact that he’d lost an entire month of gross motor development, I figured he had a lot of catching up to do.  Tim remarked, “You sure are militant about torturing that kid on his belly.  Is it because he’s a boy?”  Ha!  No, it couldn’t possibly be because he was born with a bone disorder and I was desperate to help him build bone strength despite his deficiencies.  Funny Tim.

I do, in fact, find that I force Jack to do things that I wasn’t in a hurry to do with my girls.  I definitely go out of my way to allow him maximum mobility – things like not installing a safety gate for the stairs but instead following him up and down so that he is not stifled in his motor development.  Or, being extra careful to encourage a healthy diet instead of resorting to convenience foods.  Or, severely limiting exposure to screens, at the expense of getting stuff done.  Anyone who has a special needs child can tell you that it’s anything but convenient.  I sort of think that I’m finally bringing my A-game to this parenting thing and I’m embarrassed to admit it took a disability to force me into it.  Don’t get me wrong – I have always been a deliberate parent, but I definitely cut corners in certain ways for the sake of convenience.  I don’t beat myself up about it, but it does make me ponder the long-term effects that my laziness may have had.

In any case, Jack is meeting all of his physical milestones at the same time or before my other kids.  We weren’t even sure if he’d be able to walk, let alone at a time that is on par with others his age!  So understandably, we are incredibly grateful to witness this sweet boy’s unforeseen progress.  We all adore Jack.

 

Your kid has an incurable disease, now what?

osteogenesis imperfecta

In January, when we discovered that Jack had Osteogenesis Imperfecta, it was nothing short of traumatic.  Just a month earlier, I had gone through unmedicated labor for the fourth time.  I was much older than the last time I’d done that and frankly, it was miserable.  I’d spent a day in the hospital, trying to keep it together as I sent my baby off for a circumcision for the very first time and again when we discovered that Jack’s legs were unmistakably bowed and his left arm not moving properly.

I enjoy being a girl.

Yesterday I took Anna to the bank to open her very first checking account. We walked in with Jack in tow, the other girls otherwise occupied at ballet class and Activity Days, and met with a very chatty banker, who walked us through the process.  

We learned she has two boys and two girls of her own and that she LOVES babies (as evidenced by her constant fawning over Jack).  She remarked, “You are going to LOVE having a boy.  They are SO different than girls.”  (As if girls were something worthy of disdain.).  I thought to myself that aside from diaper changes, I hadn’t experienced anything remarkably different about having a boy, at least not in the first ten  months.

For such a time as this.

Hindsight is truly 20/20.  Usually that expression is used to denote a bit of regret at decisions that perspective would have prevented.  Today, for me, it is an expression of gratitude at all the experiences I have had that have prepared me for what I am going through right now.  We cannot understand the full effect of life’s experiences until we can look back on them and their influence on today’s.

Four years ago, when Tim and I decided we wanted to have another baby, we fully expected to get pregnant within a couple of months as I had with my four girls.  Miscarriage was not even on our radar.  Our expectations completely shifted after 9 months of menstrual cycle after menstrual cycle and then 5 miscarriages within a 2 1/2 year period.