Osteogenesis Imperfecta: A Never-Ending Story
The following is a story provided by Kristen, an Academy Alert reader.
My brother has Osteogenesis Imperfecta (OI). This sentence is typically met with blank stares and a lot of questions. It’s a mouthful to spit out, but for my family and I it’s as natural as saying “Adam wears glasses.” OI, more commonly known as brittle bone disease, is typically inherited. However, Adam’s case is classified as a spontaneous mutation in the DNA. OI is exactly what it sounds like, the bones are brittle and break easily due to a lack of Type I Collagen. Collagen is the main protein in the connective tissues, so think of it like a building without the supports. That building isn’t going to hold up well under pressure. There is no cure for OI, but there are treatments available to help increase bone density. There are several different types of OI that range in levels of severity. Adam has Type IV, which is a moderate form. Characteristics of Type IV can include short stature, scoliosis, blue sclerae, bowing of the bones, and a few to several fractures over time.
Big Sister Love
Adam was born on April 25, 2001. I met him in the late morning when my dad picked me up from home to go see my mom and new baby brother. It’s been 16 years, but I still remember being in complete awe of him. He was so tiny with fuzzy black hair that stood up all over his head. The anger I had initially felt (after all I’d been an only child for 15 years) instantly disappeared as I looked at this diapered little person. It was that first shock of big sister love and it has never wavered.
Adam was given his OI diagnosis the day he was born. That day we learned that he already had broken bones. In hindsight, Adam should’ve been born by C-section, but even with multiple ultrasounds the doctors were unable to determine why the leg length was so short compared to the rest of him. The local hospital simply lacked the technology needed to determine something like this and the only thing they ever said was “dwarfism”. As a family, we were blind-sided, we had never even heard of OI.
Life with a baby around was an adjustment, life with an OI baby was an even bigger one. We had to change his diapers differently, take our time changing his clothes, getting him in and out of the car, and be constantly aware of anything and everything around us that might cause him harm. Even now, at 31, I don’t know that I’ve ever been more aware of my surroundings than I was when Adam was a baby. At two weeks old, Adam broke his left arm when it bumped into the carrying handle on his infant car seat. He was so little that the doctors at the emergency room made his splint from tongue depressors and gauze.
Seeking Out Treatment
My parents sent a letter requesting treatment to Shriner’s Hospital for Children when they received Adam’s diagnosis. The official confirmation and approval for treatment was received in June 2001. Adam was initially seen at the Philadelphia Shriner’s Hospital. Doctors there felt that he needed to receive Pamidronate, an intravenous drug administered to help increase bone density over time. That hospital didn’t offer the treatment so we were sent to the Erie hospital. In August of 2002, my family trucked on up to the Erie Shriner’s Hospital for Adam’s first Pamidronate treatment. The day before his IV was scheduled, Adam fell down while standing in his crib and broke his leg. Surgery was scheduled and the doctors put him in a Spica cast. Thankfully, he was still able to receive the treatment that had been the original purpose of the trip. But what was initially only supposed to take 3 days ended up taking much longer.
Unfortunately for my family, trips like these were frequent and Spica casts became the norm in our household for several years. In 2003, Adam was in another Spica cast. This time because he fell on the 4th of July getting out of the swimming pool. He was treated at our local ER and after 3 weeks in the cast, X-rays showed that the bone was not lined up correctly and would break again. Because of this, the Erie hospital scheduled Adam for a rodding surgery on July 31. This surgery was set to be the first femur rodding surgery for him. During this surgery, Adam’s bone was re-broken and set with an Intramedullary (IM) rod. After yet another 3 weeks, X-rays showed that the IM rod had shifted. My parents had the option of having it put back into place or waiting to have the Fassier-Duval (FD) rod put in instead. FD rods are self-extending, used primarily during bone growth, and had just been approved for use within the United States. Rather than have the IM rod put back and risk it moving again, my parents decided to wait a few weeks on the FD rod. Eventually Adam had FD rods put into both of his femurs. And over the course of growing, the rods have been replaced with longer ones.
I’d like to tell you that the heartache ended there. That there were no more breaks, simply “upkeep” surgeries. However, that’s not the case. Over the next 14 years Adam had more breaks and surgeries than anyone can remember off hand, 2 more full Spica casts, several separate long leg casts, and spent 3rd through 5th grades in a wheelchair. He missed the first day of 3rd grade because he tripped the night before and broke his leg. Adam was so excited that he couldn’t sleep, so he and my mom had snacks… we all spent the night in the ER that night. Around that same time frame, he had surgery on his hip to fix the coxa vera. And then the following summer (between 3rd and 4th grades) he suffered two broken femurs and a broken ankle when the beach surf rolled him in the sand.
As of 4th grade, Adam had been off of the Pamidronate treatment because his new doctor claimed he’d been on it for too long. After the 4 breaks between 3rd and 4th grades, Adam went for treatment at the Montreal Shriner’s Hospital for Children to see Dr. Fassier. He was unable toperform surgery right away because Adam’s bone density had dropped after being off of the Pamidronate. Adam began treatment with Zoledronate and had to have two follow up treatments prior to surgery. When the time finally came for surgery, it was done 1 leg at a time, with a week of traction in between. This time he was put into 2 separate long leg casts. Imagine transporting a 10-year-old wearing two full leg casts. We had to figure out new ways to maneuver, which was made much more difficult by the fact that he was no longer a baby. Car rides required him to be harnessed, laying down, in the back seat and you can forget about room for anyone else. His casts were removed before Christmas and he began pool therapy. He was given the “okay” in March the following year to walk as much as he wanted.
Growing up with OI
As he’s gotten older, Adam’s fractures have lessened. In the last 4 years, there have been 3 fractures. Two different femur fractures and a broken wrist; one that Adam made a temporary splint for (out of a little Caesar’s box) until my mom got home from work.
Adam has had a few rod replacement surgeries after falls that bent the rods, but did not break the leg. The most recent one was done with yet another type of rod because at 4’ 9 ½”, Adam is done growing. His bone density is back to normal, but he still receives a low dosage of Zoledronate every 6 months to maintain. Thankfully, his local pediatrician is able to administer the IV so Adam only makes an annual visit to Montreal rather than twice a year.
Throughout all of the bone breaks, surgeries, trips to the ER, IV treatments, and PT, we’ve done our best to give Adam the most normal life we can. My parents brought him and our younger brother to watch me cheer at football games and competitions. I took him to parties for my friends’ kids when he was younger and now he has his own friends that he hangs out with. They go to the gym, football games, movies, the mall; all things that I did with my friends when I was his age. He was in the marching band, played percussion in the pit, and he plays the guitar. He has a job at Taco Bell and has a better work ethic than most people my age. He has a girlfriend, one he’s had for about a year. And two years ago, for the first (and probably last) time, Adam rode a roller coaster. It probably wasn’t the wisest decision, but we don’t like telling him that he can’t do something.
These are all things that I wanted and I know my parents wanted for him more than anything else in the world. To have the ability to just be a normal kid. To be something more than his “disability”. To have friends who would treat him like any other kid, but still be mindful that he’s a little more delicate than the rest of us. We are so lucky that Adam’s diagnosis is not more severe. All of us know that it could’ve been a lot worse and for that we are thankful. No part of our journey with Adam has been easy. We have all struggled, Adam with being a little bit different, and the rest of us with trying to make him feel less different while still taking care of him.
Adam is half my age, but he’s been through double what I have in his short life. He is my little brother and I truly admire him. I don’t know that I could’ve gone through all that he has and still maintain a positive outlook on life. He is kind, hardworking, sweet (don’t tell him I said so), and all 16-year-old boy. Adam has by no means been a peach to handle, but what kid is? After insisting for years that he would be a racecar driver (please, God, no!) he has made great strides. He has become more aware of himself and his own self-preservation. He has already been planning his 2019 college future, taking credits toward his planned major. At 16, I think he has it more together than I do at 31. I think Adam knows how fortunate he truly is, that things could be very different for him, and that things can always change so he makes the most of every situation.
Adam’s story is far from over, and I’m sure there will be plenty more obstacles for him to hurdle along the way. But if the last 16 years have been any indication, I know that he will overcome them, as will we all. We will adjust when and where necessary and we will come together as we have each and every time in the past. I hope that Adam’s story can help bring some awareness to this relatively unknown disease. After all, awareness makes a difference!
The Relias Academy Spotlight Course is “About Osteoporosis” (Course Code REL-SRC-A-0), and we’ll be donating 50% of the revenue generated to Shriner’s Hospital. (https://www.shrinershospitalsforchildren.org/) After reading this amazing story, we thought you’d like to know more about how to take care of our own bones as we age AND help such an amazing organization like the Shriner’s Hospital for Children. If you need CME Credit or CEU for RN for 2017, this course is accredited by the ANCC and multiple state boards.
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