Mayo and Me

Mom and I scheduled our trip to Mayo, since Dr. Facade had never referred a patient there (can you believe that? In 20 years of practice!) and therefore was no help... again. At least she was consistent.

Before we left, we went to visit my old doctor, the one now in premier care. For this blog, we will refer to him as Dr. Premier. So Steve, Mom and I have an appointment with him the week we are scheduled to go to Mayo. We discuss what's been going on for the past year or so, I show him pictures of my rash and pee and OMG he's actually heard of Porphyria before. Amazing. More amazing is that it runs in his wife's family. She doesn't actually have it but her cousins and such do. He believes I have a legit case and definitely need to see doctors at the Mayo. Great, we are on track.

At the beginning of March we left Atlanta and drove the 5 hours or so to Jacksonville. I was just coming out of an attack, trying not to take muscle relaxers and hydrocodone every 3 hours, and not happy about having to stay in a dinky hotel for the next few days. I was hopeful though that we would leave with my diagnosis.

Wrong.

Dr. Asshole was my internist at Mayo. As soon as he came into the room the first thing he said was "you are too young and pretty to be sick". WHAT? He did a full exam, between talking about his four sons (who the F cares?) and again telling me that I was too young to be at Mayo. At one point I got so annoyed that I said back "I agree, but I am, and I'm here to find out what's wrong." Do you think I'm coming here for fun? So get this, after we finish with him, he draws up a schedule of doctors for me to consult with...

Sleep Disorder Doctor

Cardiologist

Dermatologist

Gastroenterologist

Rheumatologist

Neurologist

and of course, Psychiatrist... because I'm crazy right.

Fast forward 3 days, no sleep, hours wasted, crying breakdowns, 3 pee jugs, 1 poop container, and a blood draw of 15 viles and Mom and I are on our way back to Atlanta with no answers, just royally pissed off.

Wait for results, cross our fingers that something shows, and get back as a patient with Dr. Premier.

February 18, 2010

This scene from ABC's Grey's Anatomy, "Time Warp" episode, saved my life.

My sister and her husband called me this night around 10:00 at night. I thought something was wrong, she knows not to call me so late. Ever since I got sick I go to bed quite early. But this night I was having trouble sleeping - something that was becoming increasingly familiar.

I answered the phone to a confusing rush of words and questions. "Did you watch Grey's?" "Has your doctor checked for Porphyria?" "I know you're going to think we're crazy." Once she calmed down, she explained that one of the story lines was very similar to what I was going through. This girl kept having a strange multitude of symptoms, sending her to doctors and hospitals only to be treated individually. She had various diagnoses, surgeries, and was even being told she needed a psych evaluation and anti-depressants... yes it does sound familiar. Sister went on to explain that before she called me, they looked up this disease. It's rare and genetic. Well, I'm adopted and don't have information regarding biological family history. OK, keep talking.

Then she said, "the only thing that doesn't fit is the color of your pee." Being that I'm not one to discuss my bathroom habits, I was quite uncomfortable, but told her that many times my urine is the color of a penny. Our conversation went something like this:

Sister: "the only thing that doesn't fit is the color of your pee."

Me: "what do you mean?"

Sister: "the girl on the show, they figured out what she had because her pee was dark. But you don't have that, do you?"

Me: "well sometimes it's the color of a penny."

Sister: "a penny?"

Me: "yea. that's exactly how I would describe it."

Sister: "oh my god, you need to tell your doctor and get tested for porphyria."

This tid-bit of information made it's way through my family, all members shocked I never said anything. How would I know that's strange? It's happened for as long as I can remember. I always figured I was dehydrated and not drinking enough water. I now talk about pee daily.

To prove my penny-colored point, the next day I peed in a clear plastic container and took this picture.

Armed with my new information and picture, my mom, Steve and I went back to Dr. Facade. During the appointment I was in extreme pain, rocking back and forth, looking for a possible puke bucket in every room we entered, and my mom even said I looked grey with a greenish tint around my mouth. In other words, I looked like the next Heidi Klum.

Dr. Facade finally came into the room and asked me how I was doing. I broke into tears mumbling something incoherent about how terrible I felt and that things were worse. My mom and husband filled her in on the rest. I pulled out my laptop and showed her my pee picture. She was shocked. Like most Porphs out there, this doctor had never seen one of us before. Had only read about it back in med school. She even admitted that she had not even suspected it in any patient in her entire time practicing (about 20 years). She was in over her head. Since I had just learned myself of Porphyria, I only knew slightly more than her. She left the room only to come back holding a text book (not a good sign) and said that she would need a urine sample. Ok, so I give that but of course she didn't know that it needed to be a 24 hour collection and that it needed to be out of the sunlight, or light in general... she was too distracted my the $$$ in her eyes. She even had the balls to say "if you really have this, you'll be famous! I'll write about you in medical journals!" Luckily, I was so sick my usual filter was thinned and I responded "I don't care what you do, just figure it out." I don't think she heard me though over the cha-ching that was ringing in her ears.

So I waited 2 weeks only to get a call from Dr. Facade telling me that I did not have Porphyria. I was devastated. By now I had done my research and put all of my "medical mysteries" and even my extreme reaction to sunlight in direct correlation with this condition. Things that I hadn't even thought of before, now made since. Case in point: about 6 weeks before my wedding, I decided to get Zoom whitening for my teeth at my dentist's office. Knowing how I burn easily, I made sure the tech took extra precaution. She covered my lips and face with gooey covered gauze pads (twice as much as the normal patient) and assured me that there was no possible way I would burn. Halfway through the procedure I felt myself burning. Tech lady added more goo, assured me everything was fine, that the light can just "feel" hot. I tried to believe her, but when it was over I had been right. I was so badly burnt that my face was swelling at a frightening rate. By the time I drove myself home, I could not close my mouth due to the size my lips had grown to. Blisters soon formed and eating became impossible. For 4 days I stayed like this. When I could finally close my mouth, and therefore able to cuss my dentist out, I did. All her office could do was tell me how sorry they were and that nobody had ever had such a reaction. I didn't believe them at the time, but now, realizing I just might have this rare disease, they might have been telling the truth.

So on the phone, Dr. Facade tells me that I don't have this and that she is now going to send me to an allergist. Yes, I did say an allergist. And yes, this makes no sense. I figured the urine sample I had given her at that office visit would come back negative. After all, she didn't know what she was doing, but I was hoping that she would have done her part as my doctor and research how to properly diagnose me. Unfortunately I was asking too much. But how could I expect so much from her? After all, she must have been dealing with a lot after realizing she wasn't going to get rich writing about me.

I told her thanks, but no thanks on the allergist and that we had decided it was time to take a trip to the Mayo Clinic in Jacksonville, FL. After all, Mayo is the best of the best. If I have Porphyria, they'll find it. If I don't, they can figure out what I do have.

Life Goes On

Through all of this, life continues. I continued to build my interior design business, I continued to help my husband with his chiropractic practice. I even tried going back to the gym a few times... this didn't work out so well, but expectations have changed. If I don't leave the gym strapped to a gurney, I view it as a success!

There were times when I was sad I was sick. My sister got married in November, just 6 weeks after my hospital stay. I was dealing with vertigo, extreme fatigue, edema... I wasn't at my best, and for such a special event I wish I would have been healthy.

Just one week after my sister's wedding, Steve and I traveled north to his best friend's wedding. We only see his side about once a year, and this event was it for us. Again, I was not feeling great and being away from your own home and your own bed doesn't help when you're going through this. I tried my best, put on a dress and even heels (a true accomplishment when vertigo seems to always have the upper hand), and managed to smile for a few pictures.

(Steve and I at his friend's wedding. I'm exhausted, eyes bloodshot, and I look more grey than my usual pink)

Oh blah dee, oh blah da, life goes on, OH! La la la la life goes on.

Revolving Door of Specialists

By now Dr. Facade didn't know what was wrong with me, besides that I was depressed of course. So she began sending me to specialists.

We knew my heart was fine, 4 cardiologists had confirmed this.

So off I went to a vascular specialist. This appointment is a story of it's own. Lets recap: I show up for my 8:30 AM appointment to find I am locked out of a closed office. No kidding, lights are out, doors locked, nobody home. I wait. Finally I'm let in, do paperwork, and get taken back - an hour after my scheduled appointment. Talk over my history with a nurse who looks like she'd rather be anywhere but talking with me, mandatory ultrasound of both legs, and wait for the doctor. Oh, did I mention HE'S NOT EVEN AT THE OFFICE YET? Yea, nice. After he finally showed, I quickly realized I would have had more luck just staying in bed. He said that my problems were due to my birth control pills... the same ones I've been on for years and never had problems with before. To prove his point, and maybe entertain himself from his boring job he obviously hates, he took out his iPhone and looked up this Rx. "Man this is cool" he says (no joke) "I can see here, on my iPhone, that these pills can rarely cause some edema". Thanks so much, doc, but that doesn't cover everything. Oh wait, you don't care. And I have to pay this jackass?

Next I see an endocronologist. One of my blood labs had shown elevated cortisol levels. Dr. Facade thought this might be a sign of Cushing's Disease and that I needed further evaluation. So on Christmas Eve, Steve and I go to Dr. Innuendo. He walks into the exam room, looks at me, says he never received my file from my primary care, and that he will see me in 6 weeks. NO! I'm not spending my Christmas Eve here for nothing. So I tell him my story. He says, and I can't make this up even if I wanted to, "you have narcolepsy". Huh? What about the cortisol levels? What about all my other symptoms BESIDES being fatigued? Again I can't make this up, "you need to eat 20 inches of banana a day". I couldn't not laugh. Even though this doctor did not give me anything medically useful, he at least gave me and my family a very funny saying to use during the holidays.

Since Dr. Innuendo wasn't much help, I had to see a second endo, Dr. Idontspeakenglish. She comes into the exam room, takes one look at me and says "you don't have Cushing's, you have Hashimotos". Not only could I barely understand you, but you're wrong. My thyroid levels by this point have been checked like 7 times, they are fine. Of course she wants to check them herself - sure it's only my medical insurance paying for the same tests over and over. 10 viles of blood later, I wait again for results. Normal.

So after being tested for lupus, cushing's disease, ovarian cysts, tumors, cancer, thyroid dysfunctions, heart conditions, kidney failure, liver failure, narcolepsy, depression, fibromialgia, auto immune disorders... I still was going downhill and no closer to a proper diagnosis.

Because my abdominal pain was so intense, and I was having diarrhea and constipation, I was sent to a gastroenterologist, Dr. Poop. She was very nice and lovely, but how much can you like someone when every time you see them they stick something up your butt? I was there to discuss the possibility of Celiac Disease. Dr. Poop agreed that I needed an upper endoscopy (a tube with camera down your throat) and due to the pain in my abdomen I also needed a colonoscopy (tube with camera up your butt). Great. So I schedule my "procedures" and get my "prep" instructions for the colonoscopy. The prep instructions include drinking an entire bottle of Miralax and staying on the toilet for 24 hours straight. I've never felt so sick in my life. The actual procedures were great. I was wheeled into a room, given an IV, and I was out. I woke up in a recovery room with Steve next to me and then slept the rest of the day. Nothing was found, no Celiac Disease, no tumors, no polyps, no nothing. What Steve found was a camera.

{in recovery after the procedures}

After seeing who knows how many doctors, going through who knows how many tests, being poked and prodded, I still hadn't moved out of square one.

Starting From Square One

So after 3 months of cardiology tests, it was decided that nothing was wrong with my heart. So now what? Well, back to square one. And in that square was a new internal medicine doctor. My previous doctor, who I loved and was great, went into premier care... so I find myself doctorless. Until now. This doctor was in a large practice with my previous doc and came highly recommended. Great. For blog purposes I'll refer to her as Dr. Facade (you'll get it later).

So Dr. Facade is great. She is extremely concerned and interested in my story. Her nurse is lovely and caring and doc even said, "don't worry, we'll get to the bottom of this". Well it was just what I needed to hear. Not only had I wasted all these months on my heart, but I was getting worse. Fatigue, migraines, edema, my toes were now turning blue, my hair falling out and thinning... I was ready for answers.

Blood tests round 1 - nothing

Blood tests round 2 - nothing

Blood tests round 3 - something, but really nothing. Low Vit D. Big deal.

By now Dr. Facade is running out of ideas. I continue to see her in her office 2-3 times a month, every time complaining of more and more. My list of symptoms keeps growing: fatigue, migraines, edema, blue toes, hair thinning, and now my muscles hurt and cramp, my stomach hurts, diarrhea and constipation (how do those go together?), and a strange rash is now popping up on my back and shoulders.

She sends me to local hospital for CT scan of abdomen. Normal.

I sense she's starting to think I'm loco, so I begin taking pictures of my rash and bring them to her.

I explain that like the red dots under my eyes, this looks the same, but is on my back and shoulders. There's strange areas of non-uniform redness. It doesn't hurt or itch and comes and goes within a few hours. Dr. Facade looks at my pictures during our visit (which I'm paying for) and without any interest, says "looks like a sunburn."

Yea, that's it. Ummm, ok. Well it's not. I don't go in the sun, I explain how I burn really easy and even wearing SPF 30 Sport I will burn within minutes. Even at the beach I stay under an umbrella.

No, all you Porphs out there, the bulb did not light up over my doctor's head. Instead, she says that because we can't find anything medically wrong, I must be getting depressed over the "situation" and she was going to prescribe Wellbutrin (anti-depressant). The only thing that was making me depressed was the fact that instead of looking for my underlying condition, my doctor was trying to shut me up. By the way, I never took the prescription.

I didn't stop taking pictures, though. I was shocked the next time I had this mystery rash. It was 20 times worse. Good hubbs took pics for me to take to Dr. Anti-Depressant.

Well this picture is sure to get Dr. Facade's attention. Nope. I should have fired her at this point, but I was sure she was going to get to the bottom of this... just like she promised.

Instead, she gave me a Rx for hydrocodone for my pain, and another for my IBS. Fill the prescriptions and see you in a few weeks.

By the way Doc, my muscles are now twitching all the time and it's driving me nuts...

August 27, 2009

This is the day my life changed.

My husband and I were on a work out kick. We were at the gym 5-6 times a week. I had finally started to enjoy running and was starting to see results. I remember we didn't have much time that morning because Steve had patients that afternoon. I was planning on a quick run on the treadmill and skip weights due to time constraints. Sounded like a good morning. Normal.

My mind has the next moments memorized like it was yesterday (although when it really was yesterday I couldn't remember much... but we'll get there). I had my iPod blasting, sweat dripping, and a good stride going. I looked down and saw that I was just over 1 mile and had just hit 13 minutes on the timer. That was the last thing I remember.

I woke up on the floor of the gym with 5 or so strangers around me. One holding my legs up and one holding my head still. I was confused and nauseous. Then the pain set in. My head. What the hell happened to my head? Who are these people and why are they asking me questions? "Husband. Bike. Bald" was all I could manage to whisper. They found him, called 911, and told me everything would be ok. Once the paramedics arrived I had learned that I passed out - MID RUN - on the treadmill. Lucky for my face, I fell back. Unlucky for my head, the floor is concrete. The lady on the machine behind me was now holding my head. She told paramedics she is a nurse and thought I had a seizure because I was shaking on the floor once I fell. But I don't have a history of seizures.

My head was put into a neck collar, my body strapped to a board, and I was wheeled out of the gym (in front of everyone) on a gurney. A quick ambulance ride later and I was in the ER being seen by multiple doctors and nurses. This little gem below was taken to assure my parents I was ok. They were in DC visiting my sister and were of course worried. I made Steve email this picture to my mom. At the time I was sure this was going to calm them down. (laughing out loud looking at this)

{Don't worry Mom and Dad! I'm giving you
the universal sign that I'm fine!}

Steve and I were told that the ER doctor was calling in a cardiologist. Until she arrived, I had to wait. They could run basic tests and would be hooking me up to a heart monitor. By now they had ruled out a seizure, but couldn't explain the shaking witnesses had described. Due to the fall, I also had a concussion, and the pain was excruciating. I was so dizzy, the room spun round and round and a large bump was forming on the back of my scull.

The cardiologist arrived who knows when. She sat down and explained that she sees people all day that have fainted. Not that big of a deal. However, it is a big deal to faint while you are exercising and with no warning. She therefore was admitting me for a full workup. I was wheeled up to the cardiology wing of the hospital where my nurse laughed when she saw me because I was the youngest patient there. She said the average cardiology patient is like 75 and can barely move. When she saw my birth date on her computer, saying I was admitted, she thought the year had been mistyped. I didn't care what she thought, she came with Morphine.

That night is a bit blurry in my mind. Every 4 hours my vitals were checked and I was given a new dose of morphine. A lovely lady came to the room to give me a more comfortable IV in my hand, and I was told I would be seen by another cardiologist in the morning. Poor hubbs had to try and sleep in those tiny hospital so-called recliners that really don't recline. Good husband.

{This is the best IV I've ever had. She even made a protective gauze glove, which Steve referred to as my "Michael Jackson Glove". The yellow band screams FALL RISK. I wasn't allowed to get up alone.}

{couples pic... as if we are having a good time}

In the morning I was seen by another cardiologist. More tests, more headache, more morphine. I failed a stress test, duh. By the way, a stress test is running on a treadmill. HELLO?! Did you not hear how I got into this hospital? Do you not see my fall risk band? Why would you think I could complete this test? Stupid.

By the end of the day my parents had flown back to Atlanta and joined Steve at the hospital. The doctor was explaining that they didn't have answers and that I would most likely stay for 5-6 days. OMG. Normally I wouldn't have cared as long as they kept the morphine coming, but I had a huge installation for a client in Florida and had to be there. So my doctor says he has one more test he can do, a Tilt Table Test. This means that you, the patient, gets strapped to a board while laying down. You have all kinds of heart monitors applied to you and are then lifted to an almost upright/standing position. Then you wait, in silence, while the doctor and two nurses stare at you, waiting to see if you will faint. I'm not kidding.

So at 20 minutes, I'm starting to feel sick, but haven't passed out so they give me a pill to put under my tongue which somehow speeds up the process. Within two minutes the room was getting dark and I felt puky... out. I woke up with them screaming at me. Apparently I had passed out, my blood pressure dropped to a dangerous 85/25 and my heart "paused", or in real person terms - stopped - for 10 seconds. It took almost 2 minutes for me to come back around, hence the screaming. Luckily my body restarted itself, causing me to shake - this explains what happened at the gym and why people said I had a seizure.

I still don't understand this, but this positive test got me released from the hospital. Go figure. Heart stops, you get to go home. What? My current doctor doesn't get it either. He says that my test results are highly abnormal for a tilt table and that I should not have been discharged.

Because of this, we started down the cardiology road. Having some sort of heart condition explains the fatigue, edema, and fainting. I saw a total of 4 cardiologist and spent 3 months looking for something that was never there. MRI, CT, more stress tests, EKG, EEG, 2 week heart monitor, blah blah blah... my heart is fine. Great. What is wrong then?

Is There A Beach Ball Between My Legs?

I was walking through the grocery store in June 2009 when I first asked myself "is there a beach ball between my legs?" Not exactly something you ever would imagine asking, especially when you're not at the beach!

I cautiously proceeded through checkout and drove right to my mom's house. As I examined what was going on in the bathroom, I was horrified. I walked into the kitchen and dropped trou for my mom, showing her what used to look like my legs. In the place of my inner thighs was now huge, bulging pockets of edema. I didn't even know what the word "edema" was until this point. At least now I knew why I couldn't loose weight... I'm full of water.

The edema was only located on both inner thighs, not down to my ankles or in my abdomen. There was a distinct ridge where it stopped and was even discolored. It did not hurt or ache. It lasted 3-4 days before subsiding but my body has not gone back to "normal". As I sit and type now, I am still full of water. I'm certain this will decrease once the underlying cause is taken care of. But when this was happening, we didn't know what to think. And after it went away, we didn't think about it... at least not for 2 months.

My lovely husband said, and I quote, "it looks like you have the legs of a 500 pound woman." Thanks hon.

Growing and Growing

After I recovered from my "eye dots", I thought I returned to normalcy. However, I noticed over 3 months that I was slowly gaining weight. I hadn't changed my eating habits, and was working out... why was I gaining weight? Maybe it was the "marriage pounds" I have always heard of. I'm married now and apparently eating everything, right? So I decided to step up my work outs and drop the extra LBs. Not so much...

Vampires-R-Us

Porphyria has been suggested as an explanation for the origin of vampire and werewolf legends, based upon certain perceived similarities between the condition and thefolklore.

In January 1964, L. Illis' 1963 paper, "On Porphyria and the Aetiology of Werwolves", was published in Proceedings of the Royal Society of Medicine. Later, Nancy Gardenargued for a connection between porphyria and the vampire belief in her 1973 book, Vampires. In 1985, biochemist David Dolphin's paper for the American Association for the Advancement of Science, "Porphyria, Vampires, and Werewolves: The Aetiology of European Metamorphosis Legends", gained widespread media coverage, thus popularizing the connection.

Royalty and Porphyria

{George III in his coronation robes}

King George III suffered from the genetic disease porphyria, which had also tormented Mary Queen of Scots, who passed it on to her son, King James I of England.

We now know that there are at least eight types of porphyria, and that the clinical manifestation of each type is not the same. A common feature of all porphyrias is the accumulation in the body of "porphyrins" or "porphyrin precursors." These are normal body chemicals, but they do not normally accumulate. Each type of porphyria is determined by deficiency of a different enzyme. These enzyme deficiencies are usually inherited. Symptoms of the disease can include (but are not limited to) photosensitivity, strong abdominal pain, port wine-colored urine, muscle weakness or paralysis in the arms and legs, and behavioral changes including anxiety, irritability, and confusion. The interruption of nerve impulses to the brain can cause the development of psychiatric symptoms such as depression or delirium. (For more information, contact the American Porphyria Foundation .)

George III had a particularly severe form of porphyria. His first attack occurred in 1765, four years after his marriage to Queen Charlotte. Further signs of the disease showed up in 1788-1789. From 1811 to the time of his death in 1820 the royal patient became progressively insane and blind. He was nursed in isolation, and kept in straight jackets and behind bars in his private apartments at Windsor Castle.

Other members of the far-flung royal family who suffered from this hereditary disease were Queen Anne of Great Britain; Frederic the Great of Germany; George IV of Great Britain--son of George III; and George IV's daughter, Princess Charlotte, who died during childbirth of complications of the disease.

In Sickness and in Health

Steve and I were married in June 2008. As customary, part of our vows were "in sickness and in health". We didn't know that sickness was just 3 weeks away.

I always thought of myself as healthy. Growing up I had colds, flues, ear infections... the usual. In my teens I had various times of stomach pain, cramping, migraines... all consistent of PMS... or so we thought.

However, there have been what my family calls my "medical mysteries". When I was 13, I woke in the middle of the night with terrible pain in my abdomen. It took me 4 hours to get out of bed and get help. I was rushed to the local ER, but by then was starting to feel better. After hours of testing and questions, the doctors never did find a reason for my pain and said I probably had a ruptured ovarian cyst and to follow up with an OB/GYN. So I did.

During high school I had more "mysteries" when I would wake up in the middle of the night and have just enough time to run to the bathroom or just sit up before vomiting uncontrollably. Stress. This is what we told ourselves. After all, high school is not easy.

At 19 I again had "mystery" abdominal pain for a few days. My mom figured I was constipated. I realized I was in trouble when I went to my college class and my professor asked if I was ok. She said I looked green and was rocking in my chair due to pain. She sent me home. That afternoon I was taken to the ER. The doctors couldn't find a reason for my pain, so figured it was my appendix. I was taken into the OR for an emergency appendectomy that night. Pathology reports show that my appendix looked normal.

Two weeks after my appendectomy, I was again at the hospital with abdominal pain. This time, since I didn't have an appendix to blame the pain on, they said it was my gallbladder. The only thing I had eaten out of the ordinary was avocado. Well that must be it. I was diagnosed with, get this, "gallbladder sludge". No real explanation of what it was. But I could have my gallbladder removed and the problem would be solved.... no thanks. How about you, Doctor, keep the avocado, and I'll keep my organs (or what's left of them anyway).

So that takes us up to age 23 when I get married. It was a lovely wedding and Steve and I were excited to vacation for 10 days on our honeymoon. Unfortunately, I got sick on day 3. Nausea and diarrhea with one bathroom is quite a way to introduce yourself to married life. I was sick the entire time and even 2 weeks after we returned to Atlanta. Within a month of our wedding, I got up for work one morning and noticed thousands of tiny red dots under both eyes. What are these and where did they come from? I didn't know, but I looked ridiculous. Even heavy concealer didn't cover them. They lasted 2 weeks. This was my first sign there was something deeper brewing.