Saturday, October 19, 2013

My Story- Monostotic Fibrous Dysplasia

I deal with a multitude of health issues, some of which are odd presentations and some of which are downright rare. So I figured I'd start a series called "My Story" to cover the details and medical nonsense behind what I deal with. Most of what I deal with is due to a domino effect starting with a single incident- when I broke my hip. To the time machine! (Yep, I'm a nerd. Proud of it.)

I was actually an athlete in high school, running track and dancing. When I began to have back pain and chronic UTI's, my mom worried and dragged 16 year old me to the doctor. It all turned out to be related to a trio of rather benign and easily enough controlled GI issues (IBS-C, Acid Reflux, and Gastroparesis), but testing revealed something none of us ever expected.

My femur was hollow.

Yep. Hollow. The right femoral neck, to be precise, not that any of us knew bones that well yet. I was dragged off to an Orthopedic Oncologist who diagnosed it as a Benign Unicameral Bone Cyst. Easy to treat- a single bone graft and you're golden. So I proceeded to graduated high school, turn 17 in July, then 1 month after my birthday, I had Hip Surgery #1 (HS#1) in Aug 2004. HS#1 was simple enough- they made two tiny incisions into the front of my hip, drilled 2 holes into the femur, then drained the cyst and packed it with donor cadaver bone. I woke up and demanded to know when lunch was. I actually returned the bottle of pain meds to the pharmacy after a week, untouched. Easiest surgery ever. Now, I just had to stay off my leg, complete zero weight bearing, for 8 weeks. Easy, right?

Wrong. I fell after 6 weeks and shattered my hip. Proceed to HS#2. This time a second doc, my Local Hip Reconstruction Expert (LHRE) joined the party and I was pinned and plated back together. This time, things were very, VERY different. The pain was immense. I was inpatient for a week and was discharged using a walker. It took months to get walking again. I was taken off my crutches on Christmas Eve 2004.

The pain never truly relented, though. When I overdid things, my leg would just drop out from under me. Not very convenient when walking between classes at college. It often felt like there was a railroad spike in my hip socket. LHRE spent a year looking for a cause for my pain. Nearly 1 year to the day after HS#2, we began to plan HS#3. One of the pins and a small screw implanted during HS#2 were coming loose. HS#3 was done in Sept. 2005.
My hip after HS#3:

The pain continued. My orthopedic team was at a loss, so they would throw me a prescription for pain meds 2 or 3 times a year and kept monitoring the cyst pocket that remained. Then, in 2007, we got word that the cyst was growing, and quickly. My family and I didn't really understand this- we were watching to see if the cyst would heal itself. No one ever expected it to grow. But we went back to the Local Orthopedic Oncologist and had surgery #4. Another draining of the cyst, and another round of cadaver bone. Things seemed stable enough and I was discharged from orthopedic care.

Fast forward to 2010, when my other health issues were becoming severe. I'd been sent to the Mayo Clinic Rochester. While there, the head doctor investigating my case sent me to the orthopedic clinic as he was concerned about my hip from the way I walked. That's when it happened- I finally got a proper diagnosis.

Monostotic Fibrous Dysplasia.

Fibrous Dysplasia is when the genetics of a single cell of bone misfire in utero. If it happens early enough in development, then the more extreme form of the disease, Polyostotic Fibrous Dysplasia, will present during childhood. In PFD, multiple bones, up to 60% of the skeletal structure, is affected by these weakened cells. PFD presents in young children and most often presents in facial bones. If the misfiring happens much later in fetal development, then Monostotic Fibrous Dysplasia forms, where only a single bone is affected. MFD patients usually do not experience issues until mid to late puberty. The single cells mutation becomes more and more wide spread. The mutation means that the bone cells can not properly adhere to one another, so the normal bone tissue is displaced by a fibrous lump that has no structural integrity. This often times malforms the bone, causing it bulge. I was "lucky"- my bone never bulged out due to the location of the cyst. If a big enough section of bone is weakened, then the entire bone will bow.

The Mayo Clinic decided to go the aggressive route when treating my MFD cyst, as it was starting to grow for a 3rd time. The location of my cyst means that a critical section of the femur is about as strong as a rolled up piece of paper. The cyst was also starting to encroach on the ball of the hip. Preventing Avascular Necrosis (bone death due to lack of blood supply) became a priority. So we planned to do 3 surgeries in 1 go. They removed all of the old hardware, as it was deemed too unstable to support my full body weight. Second came scraping out the cyst pocket through a large hole in the front of it, then doing a laser ablation of the pocket, before adding cadaver bone. Third came implanting a massive Internal Hip Replacement.

My leg post-op:

The huge new hardware is designed to take the weight of my body straight from the ball of the hip, through a pin, into the downward rod that runs to the knee, then through 2 screws that both anchor the rod and help evenly distribute the weight load.

I broke my hip twice in the months immediately following the surgery. The bone was extremely weak and even with the rod bearing 75-90% of my weight, the bone couldn't handle the remaining. The breaks ended up being a good thing in the end, though. They helped me heal faster and I actually gained a few small pockets of solid bone back in that area following the surgery. The most important thing is that for the time being, the cyst has stopped it's growth. Since it is a genetic mutation, however, there's always a chance of it reoccurring if so much as a single mutated cell was left. FD cysts love to grow, then stop, then grow, then stop, over the patients life. PFD patients often experience far less cyst growth after puberty, thankfully, while MFD patients seem to have very sporadic growth patterns over their life.

1 comment:

  1. Hi! I came from Love That Max, for your blog's title and stayed for the story. I was actually a real addict, because I wasn't knitting enough!! You have been warned! A stitch in time really might save you ;)