Osteogenesis Imperfecta Type 1: My Son's Story

My son, Joel (aka "JoJo"), is now four years old. He has type I OI, and has had about 25 fractures. Most of them are to his femur and tibia, but he's also broken arms, feet, toes, his collar bone, and God only knows what else!

He was diagnosed at five weeks, we when broke his femur during a diaper change. Up to that time, he'd had a clean bill of health. Because the disease was the result of a genetic mutation, we had no reason to suspect that he had any problems. (Although as a newborn he did cry a lot more than my first child...now I know why.)

Joe's a great kid...he's funny, smart, and a lot of fun to be around. He LIVES to play Super Nintendo (I swore I'd never have one in the house, but hey, what's a kid going to do when he's laid up for six weeks at a time?) He's a jolly little fella--always ready to tell you his newest "knock-knock" joke, or slide a whoopee cushion under your chair.

I've done a lot of research on OI for the past few years, especially hoping to find some sort of treatment that might help. I read an article in the journal "Pediatrics" that was published in 1976 regarding a study using high doses of Vitamin C for OI. The results looked pretty good to me, in terms of fracture reduction, and we've been trying it for the past couple of years.
I've noticed that his sclera-­p;the whites of his eyes­p;­p;cleared up quite a bit, and I don't know if that's a result of the vitamin C or not. (He takes about 1500 mg. per day.) It's supposed to help strengthen the collagen, and if nothing else, it certainly promotes the bone healing following a fracture.

We experimented with a drug called "Rocaltrol" this past year. It's synthetic calcitriol, which simulates the hormone Vitamin D, which you would typically get from the sun. Did I mention that we live in Fairbanks, Alaska, where we get seven months of winter?

I have certainly noticed a seasonal increase of fractures, and others I've spoken with agree­p;­p;they say they break more in the winter. Whether it's because of the lack of sunlight, which may result in a depletion of calcium stores in the bones, or the decreased activity level, I just don't know.

Anyway, we tried full spectrum lights, but didn't get great results, so turned to the Rocaltrol. It was an interesting experiment, but not a very successful one, I guess, as he had eight fractures last year, the same as the previous year. I wouldn't recommend it for OI.

We are now preparing to try a new therapy: Fosamax. This drug is a bisphosphonate, a third generation product of this group of drugs. Others include palmidronate and etidronate. It is used to treat osteoporosis,among other diseases, and I've heard it has been a used quite successfully.

The drug works by binding to the bone surface, and then inhibiting the osteoclast cell (which removes bone in the bone life-cycle). It also stimulates the osteoblast, which lays down new bone. The result is a net increase in bone mass. Fosamax has few or no side effects, but must be taken properly. (In the morning on an empty stomach with water, then wait at least one-half our before eating. You can't lay down after taking it, either.) The drug should increase the bone mass by 4-6% in the first two years. That may mean a big difference to someone whose bones are as brittle as Joe's.

I'm anxious to give this a try and will be happy to keep anyone posted about he results. I have not heard of anyone else using Fosamax for OI, or of clinical trials for this particular generation of bisphosphonates. If you'd like to share info with me, please contact me at:

e-mail: sturm@polarnet.com
or write: Carone Sturm
1811 Carr Avenue
Fairbanks, Alaska 99709

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