Not Dead Yet!

I know I’ve been gone for a while now, and I'd like to apologize for that. Things got quite crazy around here, but in a good way, and it was leaving me too tired to contemplate writing when I got home.

So, for funsies, I’ve decided my first post back needs to be about happy stuff.

1)      I GOT A JOB!!!!!! A good job. A job I *like*. Very important, that little L-word. I'm now a designer, marketing assistant, and office manager for a small engineering firm. I'm making more money than at my last job, which is great because it means I'll now be able to afford the majority of my day-to-day medical bills on my own. A lot of joy goes with feeling less dependent on others.

2)      I've stopped gaining weight! I've only lost about 2 lbs of the 20 lbs I put over the winter, while recovering from 2 surgeries only weeks apart. But I'm just glad to have stopped the gaining and be headed in the right direction.

3)      Had my annual neurology checkup with the guy who specializes in Movement Disorders. For years, I tremored so hard I couldn't hardly write my own name. I had massive myoclonic jerks, and lots of them. But for the second year in a row, I'm considered Stable and doing Very Well. I had actually gone a few months with zero tremoring/jerks and have had a tiny uptick lately, but we're assuming that's due to stress on my nervous system from other things being weird, and it's minor enough as to not cause any issues with day to day living. 

Biggest and Bestest (that is too a word!) of them all? I had my annual orthopedic checkup. Because I'd been having some bone pain, we went into it with a worry of possible fracture in the femoral neck. I've broken that hip 3 times before, as I'm one of the "lucky" fibrous dysplasia patients who experiences frequent fractures. I had been in touch with my doc, so before my appointment we had already gone ahead and done xrays and a full body bone scan. First off, the bone scan confirmed that my Fibrous Dysplasia is indeed Monostotic and not Polyostotic. Believe it or not, no one had ever bothered to check that. Second good thing, no fractures. But absolute best of all? The scan showed that my cyst is 100% stagnant (a Very Good Thing- this means it's not actively growing) and there's zero sign of Avascular Necrosis!!!! I can actually go 2 entire years before I need x-rays again!!!! 

I'm now far enough into work that I can manage to take care of myself when I get home, which means posting should become more frequent again. I do want to take a moment, though, to thank the various readers I've been in touch with since my last post 2 months ago. You guys have helped me remember why I take the time and energy to do this after a long day of work, and I'm excited to get back to over sharing again. ;)

Dictionary of My Life

Let's face it, I live in a world of TLA's. That's Three Letter Acronyms ;) . I never have posted a comprehensive list of what these medical terms and TLA's I use so often mean. Many of those coming to my blog are familiar with some of these health issues, but not all, and certainly not all of the various treatments I'm on for everything. So, a big bad list of everything! Okay, it's not quite everything, but I'm going to try!

RSD/CRPS- A neurological disease in which the sympathetic nervous system gets caught in a pain loop and winds up basically burning itself out. This causes extreme pain (CRPS holds the dubious distinction of being the most painful non-terminal illness known to science), blood flow issues and skin discoloration (what I call the Zombie Effect, or purple and white mottling, and Neon Pink, or spots of bright, bright red, are the most common), temperature regulation issues in the affected region(s), skin, nail, and hair growth issues, hypersensitivity to all stimuli (also known as allodynia), a variety of other issues.

Fibro- Short for Fibromyalgia Syndrome, or FMS. A neurological disease in which the nervous systems become hypersensitive to all stimuli. The overactivity in the nerves causes widespread pain. Issues like headaches, IBS, tremors, myoclonic jerks (a type of nerve malfunction that causes major muscle spasms strong enough to move the entire body), and more can occur with fibro.

IBS- Irritable Bowel Syndrome. There are three types, C, D, and A, which is short for Constipation, Diarrhea, and Alternating, respectively. 

Tachycardia- Overly rapid pulse. An average adults resting pulse is about 60-70 bpm (beats per minute). 

AI- Stands for AutoImmune, a classification of health issue where the immune system attacks the body instead of just foreign invaders like germs. Diseases such as Rheumatoid Arthritis, Psoriasis, Lupus, and more fall into this category. 

RA- Rheumatoid Arthritis. A form of autoimmune arthritis that causes joint destruction that can be rapid and severe. 

OA- Osteoarthritis. This is the standard form of arthritis that comes with aging. It is caused by wear and tear on your joints from overuse wearing down the cartilage, or padding, in the joint. It is commonly treated with oral anti inflammatories, most commonly NSAIDs (non-steroidal anti inflammatory drug) like Celebrex, Naproxen, and Meloxicam. 

FD- Fibrous Dysplasia. A rare genetic skeletal disease that occurs in about 1 in 30,000 people. A genetic flaw in (a) bone(s) causes the good, hard bone tissue to break down and leave behind a honeycomb like structure. This can cause the affected bone(s) to bulge and/or break, which can result in severe disability depending on location and severity. There are two forms, Monostotic (MFD) which occurs in 1 bone, and Polyostotic (PFD) which occurs in multiple bones. FD most commonly affects the "long bones", which includes the large bones in your arms and legs, ribs, and the skull and facial bones. 

SCS- Spinal Cord Stimulator. This is an electrical device that is implanted into the spinal cord through an (usually) outpatient surgery. A small battery pack is implanted in the back, side, or stomach, in a fat pocket close to the skin, and wires are fed into the spine. An electrical pulse is fed through the wires to help control pain caused by CRPS, Failed Back Surgery Syndrome, other back issues, diabetic neuropathy, and more. Patients use a remote control to control the intensity of the stimulation. 

SNB- Sympathetic Nerve Block. A type of injection done on the nerves where they branch off from the spine in what's called a Ganglion Bundle. These Ganglion Bundles branch off on the spine between the spine and the internal organs. These injections involve using a long, flexible needle to reach the ganglion bundle, then a mixture of medications including a numbing agent and an anti-inflammatory are injected to reduce inflammation. This can help reduce symptoms for patients with CRPS.

SGB- Stellate Ganglion Block. These are basically a SNB but done in the neck region in order to get to the nerves that control the arms and hands. These can be done from both the back and the front and use a much smaller needle than SNBs, as the nerves are closer to the surface. 

PT- Physical Therapy. .. Need I actually define this one? 

WWPT- Warm Water PT. Done in a heated pool, usually heated to 86 degrees F or warmer. My local therapy center heats to 89, which is comfortable even with the CRPS. 

OT- Occupational Therapy. A type of therapy used to help people overcome and work within limitations caused by a disability or severe injury. While PT works on gross motor skills, OT works on more fine motor skills and tasks of daily living. 

Forearm Crutches- Also known as Lofstrand Crutches, these are the most commonly use variety of crutch in the UK and Europe. In the US and Canada, underarm crutches are more commonly used, especially in cases of short term injury, as they are considered to be more stable. Forearm crutches are easier to negotiate and are less likely to cause nerve damage in the upper body, however, which makes them popular with those with permanent disabilities. 

Immune Suppressant- these medications suppress various functions of the immune system in order reduce inflammation and damage to joints and organs in those with autoimmune diseases. Many of these drugs were originally created for use in chemotherapy.

Biologics- A class of immune suppression made using recombinant DNA. There are a variety of different mechanisms these drugs use, which means different patients respond to different ones. Because these meds are more fragile than most, they are given via injection or IV infusion. They are more expensive and there will not generics of these meds anytime soon (great explanation as to why here), but they provide excellent options for patients who do not respond to chemo-type immune suppressants. Remicade, which I receive infusions of every 6 weeks, falls into this class of med. 

Sooo... at this point, I'm sure I've left out something. Actually, more like multiple somethings. But this covers all of the tags I'm currently using and then some. But, if there's ever a term I use that you don't recognize, feel free to ask. I don't assume people know what all these crazy terms mean- quite the opposite, in fact. 

Zebras DO Exist!

Today's THE day. The day of each year where I become even more loud mouthed than usual. Rare Disease Awareness Day. 

Not-so-Fun Facts, courtesy of The Global Genes Project:
- 1 in 10 Americans, on average, have a rare disease
- 80% of all rare disease are caused by genetics
- 95% of all rare diseases have not a single FDA approved medication
- 50% of those affected by rare diseases are children
- of those children, 30% do not live to see their 5th birthday
- approximately 50% of all rare disease have NO disease specific group supporting patients or research

It's a grim picture, all told, for those who suffer from a rare disease. Many don't even have a diagnosis, or suffer unnecessarily for years due to a lack of a diagnosis, due to current practices. I spent 6 years without a diagnosis for one of my rare diseases (RSD/CRPS) and 7 years without a diagnosis for the genetic skeletal disease I have (MFD). With proper diagnoses, I likely would have had fewer surgeries and a much easier journey. Yet, most doctors feel no need to ever look beyond the most obvious answers.

In fact, in medical school, they teach new doctors a phrase: "When you hear hoofbeats, think horses, not zebras." The gist is that when you see a set of symptoms, you should always assume the most common answer is the right one. The problem with the No Zebras mindset is that if you don't fit into a tidy box with perfect test results or a common diagnostic criteria list, you're not going to get help. Too many people suffer for years, even decades, because no one will look outside and see that one of those horses has stripes. 

When you find that one doctor willing to look past all the horses and see the lone zebra standing there, hold on tight. They might be your only hope for decades more to come. 

Wait- what did you just ask me?!

My father turned 50 today. (Yes, I'm 26. I have very young parents. Grandparents, too.) Last night dad had a big blow out birthday party at my parents home with over 40 guests. Thankfully, my parents home is plenty big enough for that kind of party, so I could manage to maneuver fine even with the extra width of crutches. I made the rounds, as I knew nearly everyone there, even Dad's work buddies since I briefly interned at his company. I got all the normal "How are you?"'s, as expected, followed by the also expected, "How's the hip?" Breaking your hip 3 times before the age of 25 tends to make you the topic of gossip, so I'm used to that one, too. My standard answer is, "Still attached." Most people chuckle a bit and nod knowingly.

But after the normal questions, I kept getting asked a third question. It was one that blew me away that people actually asked.

"How's the pain?"

Most people tend to have issues acknowledging pain disorders. I get asked all the time about my hip, because broken bones and orthopedic issues are normal enough that even though what I deal with is a bit more extreme than normal (though nowhere near what some people cope with), people can relate. The pain, though? Most people have nothing to relate to it. I barely remember not being in pain, since I've spent 1/3 of my life in bad pain. Yet people almost never ask how I am in that regard. My biggest disability is the elephant in the room. I didn't quite know how to answer and found myself stumbling through.

I've been trying to figure this out. It's just... weird. Kind of unsettling, to be perfectly frank. Now to wrap my brain around all of this.

Math Sucks

In a fit of stupidity, I decided to play a bit of a numbers game with myself. I had made the joke that my medical smorgshiboard made me 1 in a million. Then I realized that while I knew how rare some of the weirder things were, I didn't know all the stats. This is where the stupid came into play- I decided to not only look everything up, but to also do the math.

....Math, how you have betrayed me.

CRPS/RSD- about 1 in 5,000 (this is an average of 3 or 4 different studies)
CRPS type II is additionally only 1 in 10 CRPS patients

I'm now up to 1 in 50,000.

Monostotic Fibrous Dysplasia- about 1 in 30,000 (it could be as high as 1 in 15,000, no one's really sure as many cases go undiagnosed- we're going to go with diagnosed cases for fun here)

Doing the math? We're at 1 in 1.5 million.

Autoimmune disease- as my AI issues don't come with a true, firm dx yet, I looked up the general incidence of autoimmune issues in the general population, so- 1 in 12

Acid reflux- this one was tough to nail down, but the most logical stat I found was 1 in 22 for daily reflux. I saw stats saying cases as severe as mine are far less common, but I'm going with the smaller numbers here.

Gastroparesis- about 1 in 15

IBS-C- I chose to go with the incidence of IBS in general, as it was an easier stat to obtain, so about 1 in 10.

Still doing the math? We're now up to 1 in 59.4 trillion. Trillion. And sadly, this is mostly conservative estimates. Very conservative. Redoing the math using the less conservative ends of the ranges put me well into the quadrillions. I also have not included all the weird little issues I have, like tachycardia, thoracic outlet syndrome, overactive bladder, and more, as these are all considered symptoms of bigger syndromes. (Heck, half the time we can't figure out if things belong to the CRPS or the autoimmune issues.) I now feel an urge to boycott math. Sadly, the world doesn't much allow for that particular boycott. Nor would my mother, the mathematician. Instead, I'll be petting some silk yarn and looking through pattern books. I might even bust out the bag of angora fiber that's waiting for me to have the skills to spin it. Petting angora fluff always makes the world a better place.

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.