Osteogenesis Imperfecta Type 1: Jojo's Story

(Please note: this was written in 1995--an update follows.)

Jojo is four years old. He has type 1 OI, and has had about 25 fractures. Most of them have been to to his femurs and tibias, but he's also broken arms, feet, toes, his collar bone, and God only knows what else!

He was diagnosed at five weeks, when we broke his femur changing his diaper. Up to that time, he'd been given a clean bill of health. Because the disease is a result of a genetic mutation and was unknown in our families, we had no reason to suspect he had any problems. (Looking back, he did cry a lot more than my first child.)

Jojo's a great kid...he's funny, smart, and a lot of fun to be around. He adores Nintendo, which has been a Godsend during some of those bedridden days in casts. He's a jolly little fella, always ready to tell you his latest "knock-knock" joke or slide a whoopie cushion under your chair.

I've done a lot of research on OI during 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 look pretty good to me, and we've been trying it for the past couple of years.

I've noticed that his sclera--the whites of his eyes--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 six months of winter?

I have certainly noticed a seasonal increase of fractures, and others I've spoken with agree--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.

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 pamidronate 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 the 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 my email address below.

We have been incredibly lucky as far as orthopedic care goes. From the first doc who trusted that we weren't beating our child (in spite of all the signs of "battered child syndrome") to our current orthopedist who is there for us day or night, we have certainly been blessed with the best. If you are in a medical environment in which you can make your own choice of providers, I urge you to find someone who is knowledgeable about OI and truly understands your situation. It makes all the difference in the world!

Update: December 1997

I apologize for not updating this page more often--it's been a crazy couple of years!

Jojo is now six years old and has had over 40 fractures. We discontinued Fosamax treatment because we didn't see dramatic improvement, although I think the therapy happened to coincided with a rash of breaks. I believe the drug will offer hope to others.

We are now planning to enroll Jojo in the Shriner's pamidronate trials, which have shown very positive results. From what I understand, the recent one-year evaluation demonstrates that children who have received quarterly pamidronate infusions have increased bone mass and reduced fracture rates.

The big event for us in 1997 was rodding surgery; Jojo had both femurs and tibias rodded, and the results have been remarkable. While he still breaks (five this year with rods, compared to seven last year and ten the previous year) the fractures are much less traumatic. They are usually not displaced, and the cast time is reduced. I wish we would have done this a year earlier.

Jo's a sucker for a complication, however, and we did have a scare following surgery when he developed compartment syndrome, in which the limb swells dramatically and may cause tissue death. The wonderful folks at Children's Hospital in Seattle, where surgery was performed, caught it in time, and were able to quickly relieve the pressure in his leg.

The other problem Jojo developed (just recently) was rod migration, where the femoral rod actually worked its way out of the bone. It is now jutting into the soft tissue of his hip, and has begun to bother him a lot. This is not uncommon, and we've scheduling a trip back to Children's to have it corrected.

Jojo attends physical therapy three days a week, which has helped him reach his goal of short-distance ambulation with his walker. He is a happy, well-adjusted kindergartner who still loves Nintendo, whoopie cushions and practical jokes. His most beloved birthday present was a $1.59 water pistol that looks like a camera and shoots water instead of film. This kid is a joy to have in our family, and we can't imagine life without him.

Update: August 1998

After years of pursuing it, Jojo has finally begun pamidronate therapy, and we are filled with hope. His first infusion began this month, and we are anxious to see if he follows the pattern of others in clinical trials, who have experienced increased bone mass, decreased fracture rate, and improved mobility. We'll keep you posted!

Update: May 1999--WOW!

Jojo has now had three Pamidronate infusions and we are thrilled with the results. The improvement has been nothing short of dramatic. His increased strength is apparent to everyone who sees him and was verified last month when his dexa scan showed an increase bone mineral density of 67% compared to a baseline taken prior to his first treatment. (Lumbar spine, L4.) The chronic bone pain is gone, stamina and endurance have improved and he has grown over 4 inches. He now walks independently much of the time. And while he still suffers an occasional fracture, they are consistently the result of significant trauma. We're amazed at the number times he has NOT broken when he's tripped, fallen or been involved in some sort of mishap. This all seems too good to be true!

If you have questions, or would like to get in touch, please email me and I'll do my best to reply.

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