Osteogenesis Imperfecta

18 07 2010

 

It’s been a busy week. Between getting Zack to Cub Scout Day Camp and trying to cram errands/movies/park time into the hours that Colby is at school (trust me, he’s not that into movies), I feel like I’ve been running on a hamster wheel.

(The current state of my home reflects this. Also, Colby has been obsessed with dumping things lately. While I am always excited at shows of typical-child behavior from my atypical youngest, two boxes of cereal, a bag of chips, and a vat of macaroni onto the carpet are enough already.)

Anyway, I was just saying how even though this week has been busy, I think I have been avoiding this post. When I so glibly rattled off things that were in my mental blog-docket, I really thought I would be ready.

I’m not so ready.

However, I am trying to be readier.

Here’s the deal: while you think you are reading all of my most private thoughts on this here blog, I have to break it to you: you are really getting only a small glimpse of my cerebral activity. (Can I use two colons in one sentence? And does the phrase ‘cerebral activity’ remind anyone else of P.G. Wodehouse for some reason?)

I am inherently a private person.

I don’t tell people things about myself, unless they really dig. Or unless the thing is funny and/or self-deprecating. Or if it can help someone else. I don’t always know where the line is, but for the most part, I keep my “problems” under wraps.

 Three of my children, Zack, Rainbow, and Colby by name, have a genetic condition called Osteogenesis Imperfecta.

I don’t tell a lot of people about this for a couple of reasons:

1. I don’t want them to be treated any differently from other kids

2. Well, maybe that’s it, because I’m not thinking of anything else offhand.

The thing is, I went to a conference when I was in Portland last weekend, and I learned a lot. I realized that if I don’t get the word out, people won’t know anything about it. (Which, granted, I just said I didn’t want to do.) I realized that I don’t want my kids to be known as “different,” but that a lot of people with OI (in fact most) don’t have that luxury. They have to be known as different or else they get injured. So, here is my little part in getting the word out. I think I have about 60 people who read my blog on a fairly regular basis, most of whom are related to me. That is okay–I don’t think I’ve explained it very well to my relatives, either.

Osteogenesis Imperfecta is a genetic disorder that has to do with collagen. When a person with OI makes collagen, one of two things happens. They either don’t make enough collagen, or the collagen that they make is faulty. The result (in a simple nutshell) is bones that break easily. There are lots of other tangetial things that can happen, since Type 1 collagen isn’t only in bone, but that is the big one. OI is considered a rare disorder, which I think means that 1 in 10,000 people are effected. (Which also means–hey, if you know the Jones family, you know more people with OI than most anybody!)

I thought it was kind of funny back in December, Stan and I went to a reception in Seattle put on by the OI Foundation. One of the speakers was bemoaning the fact that OI is so little known. If more people had it, there would be greater funding for research! Then he said something about Marfan Syndrome (which I also know about because of an unrelated story, but it’s ironic so ask me sometime) being no more prevalent in society, and yet because there was a celebrity with a child afflicted with Marfan Syndrome there was all sorts of awareness. He actually said, “If only a celebrity would have a child with OI . . . ”

Anyway, since my narrative flow is already off, there has been a book written recently by Jodi Picoult called Handle With Care (which I haven’t read because, really, I don’t want to) about a family who has a child with severe OI. If you’re interested.

I went to the conference, hoping to be educated (even though it’s kind of weird to be telling a new doctor what your child has and what it means, I figured knowing more won’t hurt anybody). I was. I was also attacked with a severe case of survivor’s guilt. I was in sessions with parents who would start out their comments with, “My daughter turns five next month, and we stopped counting when she had two hundred breaks . . . ” It is heartbreaking, but it is also amazing to see the strength of these people. It makes our vertebral fractures seem like a drop in the bucket.

Saying that, though, I do know that broken bones hurt–even when you’ve only had a few. I’m grateful my kids don’t have it worse than they do. I’m grateful that while their collagen is faulty, they aren’t required to be in  wheelchairs. I’m grateful they will be normal-sized (if a bit on the short end) adults because, let’s face it, the world is not made for the convenience of people under four feet tall. I’m grateful they haven’t had to have rods put in their long bones just to keep their legs from breaking when they try to stand.

I also think of the theme of the conference: Living Well with an Unbreakable Spirit.

I was so impressed with the people there, the parents, the adults living with OI, the kids, the caregivers, the siblings. It was an honor.

My kids have Osteogenesis Imperfecta, and they are great kids.

For more information (and probably more accurate information, at that) you can visit the Osteogenesis Imperfecta Foundation’s website. And give money!

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13 responses

19 07 2010
Tami

Great post! Thanks for being an amazing example of courage!

20 07 2010
Mandy

I appreciate that you are a private person and it makes me feel even more honored to read something new about you and your life. You are a brave, amazing person and your kids are so lucky to have you as their mom.

23 07 2010
Niki

Wow . . . they stopped counting after 200 breaks?! That would be so hard to see your child suffer like that. I’m glad you went to that conference. So did you come away feeling that if more people knew about the OI that your children would be injured less?

23 07 2010
Wendy

I think if more people were aware of what OI actually is, they would be happy to accomodate a person who has it. One lady (who came down from Canada) said she had the hardest time with the school and getting one teacher (P.E.) in particular to ‘believe’ that some of the symptoms were related to her daughter’s OI. The teacher thought the girl was being lazy or using it as an excuse not to do something. Later in the year, the girl had a fall (it sounded like it actually happened during PE) and broke BOTH femurs. I personally haven’t encountered anything like that from my kids’ school, but I guess it happens a lot. I think this is a case of “knowledge is power” and just getting the word out helps.

27 07 2010
Monique

So maybe there’s an OI blog in your future? What about fb? easy to get the word out there. Anything I can do to help? I’d be happy to pass along information if you have anything specific you’d like to be posted. I have about 40 or so regular blog visitors and 250 fb friends. Many of which might pass on any little ditty you create:)

28 11 2010
Samantha

Hello, my name is Samantha. I am doing a research project on genetic disorders. Osteogenesis Imperfecta happened to be the disorder i chose to do my project on. For a portion of the project we are supposed to do an interveiw with someone who has the disorder or a family member caring for a person with the genetic disorder. As you have three children who have this disorder, i would like to know if you wouldnt mind doing the interview with me. If i could just ask you a few questions, i hope you wouldnt mind answering them. Please email me. XoXoSamiXoXo@gmail.com
Please and Thank You
Sincerly, Samantha

26 01 2011
Pamidronate Update « The Ear Wax Tastes Like Crayons Blog

[…] 26 01 2011 Since writing my post about Osteogenesis Imperfecta last summer, I have had at least one click per day from someone who […]

21 07 2011
dhanya

lovely mom…. 🙂

20 09 2011
Tikki

I know this was posted a long time ago, but I am very interested in this.. my daughter is almost 3 months old.. a few weeks ago, I bring her to the Emergency Room with a swollen arm.. after Xraying they discover that not only was her arm fractured, but she had suffered two more previous fractures that we were unaware of.. My husband and I are great parents, we would never hurt her.. Her pediatrician is testing her for Osteogenesis Imperfecta but results will take a while.. in the mean time she has been taken by child protective services.. this breaks my heart.. I would like to know more because she seems very healthy other than these fractures.

20 09 2011
Tikki

.

22 09 2011
Wendy

Tikki–so sorry to hear about your daughter! It’s a scary thing when your child is in pain and you can’t do anything about it, and I can’t even imagine the heartbreak of having a child taken away. If you have a large hospital in your area, call and see if you can talk to the orthopedics department. A lot of times the surgeons or orthopedists have dealt with OI before. There are other markers besides weak bones (blue-tinged sclera [in the eyes], face shape, chest shape, and short stature to name a few) that might help in identifying OI as the cause in order for you to get your baby back while they do further testing. I don’t know enough about CPS to know what it takes, but I truly do wish you all the best and hope you get your baby back soon.

If you haven’t gone there already, I suggest you head to http://www.oif.org to read and see what information they have there for you. Knowledge is power!

30 09 2011
Tikki

Thank you so much. I have talked to some doctors.

7 03 2012
And There Was Much Rejoicing « The Ear Wax Tastes Like Crayons Blog

[…] really a story about him) to Seattle Children’s Hospital where we talked to the doctor about Osteogenesis Imperfecta, growth, and pamidronate […]

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