Hi Everyone! I am Kc and I am the McCune-Albright Syndrome/Fibrous Dysplasia consultant to MAGIC. I am 26 years old and live in MN with my wonderful husband Joe, and our 2 dogs, Rocky and Jasmine. We live a very basic lifestyle, if you didn’t know us you would never guess that anything was ever wrong. I was a “normal” (I hate this term) kid until I was five. I had all of the usual milestones and I did everything all of the other kids were doing, until one summer day when my family's life was flipped upside down.
My mom, brother and step dad were going on a camping trip a few hours away. They were planning on going boating and fishing on a small lake they were staying near. I was terrified of boats so I got to stay at my grandma’s house for the weekend. I was out playing in the driveway riding my little pink and white bike, back and forth when I got a terrible stomach ache. I doubled over right there on the driveway in the fetal position. My tummy hurt so bad I just laid there and cried for my grandma. When she came out and seen me laying there her first instinct was to try to calm me down. I just kept telling her that my tummy hurt. She called my mom when she couldn’t get me calmed down and they decided that she better take me into the emergency room. My mom also told her she was turning around and on her way home at once, of course hearing that helped a little bit right away.
The on-call doctor wasn’t sure what else he was looking at on the x-ray however. He was very hesitant to treat me at all after he saw the fracture. He sent my mom and I to another clinic about a half an hour away. It was at this clinic, after an onslaught of x-rays, scans and other tests that we received our diagnosis, polyostotic fibrous dysplasia. Through all of the tests they ran, they had also seen that I had lesions in my skull, cervical spine, left arm and shoulder, ribs, both femurs, and left tibia. I will never forget sitting in the little room with my mom crying when they told us the diagnosis. I was thinking that it was something very similar to cancer and that I was going to die. I was only five at the time so I had no idea what else to expect. Mom was crying so I knew it had to be bad.
Not long after I found myself on the way to the operating room for my first surgery. They removed the “bad” bone from my femur and grafted in donor bone. My doctor then inserted a child size plate that ran along the side of my femur and then up into my femoral neck for support. It was at a 145 degree angle to try to hold the angle of my hip joint as many of us with MAS/FD know that the angle of the hip joint can be compromised because of this condition. As we know kids bounce back fairly quickly so it wasn’t long before I was right back to running and playing with the other kids at school again.
I had days growing up where I would have a lot of pain and still do to this day. On those days I would just take it easy and hang out at home. But my mom would usually let me run and do what I could. I learned my limits this way and also learned to be able to tell when things were wrong. As I grew up, I could tell when things just didn’t feel right with my bones. When my pain was too excessive and resting just wasn’t cutting it anymore, I knew that I probably had a little fracture someplace and needed to head back in to get it checked out. But I am very thankful that my mom didn’t keep me in bubble wrap and locked up in the house. She let me do things that all the other kids were doing and then some.
My first plate lasted two years before my doctor decided that I had outgrown it. So in 1991 I went from the 2” 145 degree angle plate to a whopping 3”. The 3” plate was actually two pieces. The piece that went up into the femoral neck screwed into the plate that ran along the femur. I felt like I was really making progress. A big kid plate. They were all two pieces after that. Things were going good with just sizing up plates as I grew. We had to do bone grafts every time as well since the FD just reabsorbs the donor bone they put in. All of my other lesions were being monitored but were not causing any problems. We thought we were in the clear.
I had my normal plate change in April of 1997, no problems at all. I don’t always follow doctors orders, (what kid does) I like to push the envelope a little bit, but I don’t push myself too much either. Come the beginning of December I was having a lot more pain than usual. This goes back to knowing my limits and knowing when something just isn’t right, I knew something was not right. I went in to get it checked out and found out that somehow I had managed to break the bottom two screws on the plate they had just put in. My surgeon felt it was too risky to leave it in as it could put my femur at risk of fracture so it was off to surgery a week later for a new plate.
With all of the bone grafting they were doing my whole life they were very closely monitoring my leg lengths as well. Turns out that eventually my left leg did turn out to be a bit longer than my right. Before my growth plate in my left knee was completely done growing my surgeon went in and scrapped the growth plate just enough so that while it was healing my right leg would even out with my left. It worked and as far as my leg lengths go I am level today.
I have been having surgeries on and off all through school. My mom and I had one goal in mind (more me than mom) I wanted to walk across the stage unaided to get my diploma for graduation. No crutches, no wheelchair. All of the kids I had gone to school with the whole time were very used to seeing me on and off of crutches and in and out of wheelchairs.
When my senior year rolled around, my doctor decided that my plate needed to be changed out in my left hip again to the biggest adult size possible and that my right hip was getting close to fracture as well and we should graft and plate that one as well. Of course this surgery took a but more contemplation on my behalf. I knew plating both at one time would mean being out much longer. My left had been plated since I was five years old and has had so many surgeries that I have lost count. But now my right hip was getting progressively worse. We all knew that both hips needed to be done, it was just a matter of when.
Thanks to insurance issues we knew it had to be done before school was out while I was still under my mom’s insurance. So we went ahead and scheduled the surgery as soon as we could. I was in a wheelchair for a few weeks before I was ok’d to go to crutches. I pushed myself like I have never pushed myself before in physical therapy. Of course I had the sinking memory of broken screws in the back of my mind this time. My follow up appointment with my doctor was the week before commencement and I was nervous. But upon x-rays and my physical exam she gave me the all clear. So one week before graduation I was crutch free. I was never so happy in my life to hear a doctor say that I didn’t need the crutches anymore. Although somehow I do have a broken screw on the very bottom of my left plate again. She told me that if the next one up does break, it will need to be replaced but it is ok with one. So this one is still on watch.
In 2005, I decided to get my tubes tied. I was only 21 at the time but it was always recommend to me not to have children with my hips. I was having a lot of problems with other forms of birth control as well. I was told that the hormones in the birth control was making my FD lesions worse (not proven). Not many forms of birth control out there don’t have hormones in them, so after getting very frustrated with doctor after doctor I finally said a tubal ligation was what I wanted. I never wanted kids and had always had problems with ovarian cysts and they said this might help so we thought we could give it a shot. Joe and I had been dating for 3 years at this point but they still needed his approval to do the surgery. I even had to go to counseling before they would perform the operation. I am very glad I did it to this day. I can not even pick up my nephew without cracking a rib so I can not imagine not being able to pick up my own child. Just please be aware that MAS/FD will not pass on to your children if you do decide to have children. There are plenty of women who have MAS/FD who have had more than one successful pregnancy, it was just not for me.
Skipping ahead to 2008. I married the most wonderful understanding man I could have asked for. He helped me in high school after some of my surgeries and yet we never dated until after we graduated.
A family who’s daughter broke her neck on a rollercoaster. At this point it has been a year and a half since my incident on the coaster. As soon as we got home from Chicago I called to make an appointment to get it checked out. That led to x-rays, CT’s and MRI’s in duplicates. No fractures or breaks that they could find, but they did tell us that my C1 through C6 vertebrate are all pretty effected with the FD. I got pretty hard on myself after that. People kept giving me the don’t do this don’t do that.
For me that is the worst part about this disease is the stuff you can’t do or they don’t want you to do. I am a very strong willed, very stubborn person and do not like to take no for an answer. I have not been on a rollercoaster since, but there are other things that were put on this list of things to avoid. I simply try to adapt them so that they are still safe for me to try.
The best thing I have found for relief from the pain is bisphosphonate infusions. They have really helped me. I started taking them in 2008. I had a very strong reaction to the first dose but the relief it offers is well worth the day and a half of feeling bad. I feel that my neck is the last part that is feeling relief from the infusions. I also feel that the quality of life I have now is well worth any possible side effects that you can get from the infusions. I can go roughly nine months between needing another infusion right now. My husband says I am like a kid on steroids or the energizer bunny who just got a new battery when I get a new infusion.
In the middle of all of the neck pain in 2009 I had my most recent surgery. This was also about the same time I found a new doctor. I was jogging on a treadmill at a local gym and got that feeling that something wasn’t right. I got off the treadmill and called Joe. I told him I think my leg may be broken and we need to get in to the doctor. I went to my normal doctor that I have been seeing since I was five and told her what I was feeling and that something wasn’t right. She took and x-ray and told me that I just needed to go to physical therapy to strengthen the muscles. Not happy with that response I decided to see what I could do about getting a second opinion at a different clinic. I got an appointment with an endocrinologist who then set up an appointment with a very good surgeon who was familiar with FD. He took x-rays and ordered an MRI. After looking at the MRI he found a small hair line fracture. You should always stick with your gut if you feel that there is something not right with your body. You are your best advocate.
We set up a date for surgery. All set to go with a rod this time, but after talking to his fellow surgeons and reviewing the MRI, he decided to go with a custom made titanium plate instead. It goes from my knee to just above my ankle. I was fine with his decision to switch because I was more nervous to go with the rod since I was so familiar with plates. I have had very little problems with the plates and very little complications due to surgeries, however this time I did not get so lucky.
I woke up from surgery in the recovery room unable to move my left foot at all. I was scared and nervous. Nurses thought that it was from the nerve block that they use for pain. I think they tried to use that to comfort me knowing I was scared, forgetting I didn’t choose to do the nerve block. In the end the result is that I have foot drop. I had to wear an AFO(ankle foot orthosis) for about a year after surgery until I got used to walking without it. I do tend to drag my foot a little bit more and trip a lot when it is tired, but for the most part it is hard to tell unless I tell you.
I have learned a lot about myself having this disease. I have learned my limits and that I am strong. I have also learned that I have a very high pain tolerance but that no one, no matter how strong they are can get through this alone. I have a wonderful support system with family. Especially my mom who endured tons for and with me when I was a child. My husband who helps me through my good days and bad days and does so with ease. And my largest support system-the MAGIC Foundation family who I only found in 2010 and I wish I would have found years sooner. We are here for one another through thick and thin. There is nothing like having someone who has been in your shoes.