At least I have my ears…

Last night I could not sleep.  I did the same things I always do to get ready for bed, but sleep was elusive.  I ran everything over in my mind from earlier.  I took my vitamin D, glucosamine, rubbed the stuff on my sore shoulder, and heated up my heating pad.  My room was dark and my covers were warm.  Why couldn’t I fall asleep?  My shoulder has been hurting for a while now, and I have seen doctors about it, but I gave up after a cortisone shot left me in more pain.  I started taking glucosamine and sometimes it doesn’t hurt now.  That’s as good as I think it’s going to get.  My hereditary condition has been known to cause joint pain, so I consider myself lucky that currently only my shoulder is giving me pain.  I thought about how I was only 35 and had experienced an interesting array of health issues.  Then I cursed out-loud and remembered I was another year older.  I started laughing and said to myself, well, at least I have my ears.

To understand why that is funny, I have to go backward.  Researching my condition and studying the various websites took up a lot of my time when I first found out what I had.  The more I read, the more terrible it sounded.  This was over 12 years ago, and I didn’t know what to expect.  The unexpected is often scary where your health is concerned or the health of a loved one.  Over time, I learned what was normal for me and how I should feel and what to expect when I needed a phlebotomy.  It still takes me a while to “bounce” back, but I have a higher tolerance for exhaustion now.

I was talking to my mom about my newest discoveries.  I found something linking Phantom of the Opera to Porphyria Cutanea Tarda and I thought it was an interesting analysis.  Phantom was originally written by French writer Gaston Leroux.  My mother’s side of the family is French.  Erik wasn’t that bad, but supposedly he was born with a condition.  In later years, it was changed to disfigurement or a burn.  Who can say for sure if the lore is true?  Another interesting person of note, is King George III.  There is no proof that he suffered from one of the porphyrias, but lots of speculation.  Lastly, I mentioned good ole’ Vincent van Gogh.  I speculated that he cut off his ear because of his condition.  So mom says, well at least you have your ears, what would you put your earrings on?  And that my friends is how southern people cope.  We can make most anything into something to be thankful for.  My mom always says I take after my dad, but sometimes I think it’s equal.

“The way I see it, if you want the rainbow, you gotta put up with the rain.”  ~Dolly Parton

It’s just blood…

I’m not even sure how to start this post tonight.  I went to the doctor’s office today for one of my check-ups.  When most people say that, it involves some routine physical.  When I say that,  it involves a whole entourage of people.  I bet you didn’t know I had an entourage and now you want one too.  Anyway, it started about two weeks ago when I realized I needed to get a phlebotomy.  If you missed one of my earlier posts, a phlebotomy involves taking a pint of my blood.  I called to make an appointment with my doctor.  I had to listen to the message and press a bunch of numbers to get through.  Then I had to let them know who I wanted to speak to, and then leave a message and they would call me back because no one really answers the phone anymore.  With all of our technological “advances” we have created one of the most annoying systems in the world at doctor’s offices, but that’s another post.

I got a call back from the “scheduling” person.  She does not know me nor does she care about me.  All she cares about is scheduling me in.  I tried to explain I need an appointment with the doctor and nurses, not lab because the nurses go ahead and draw my blood.  Somehow I ended up with two appointments anyway.  I tried to call back and fix it, but got the same “why are you calling and who is this and who do you want to leave a message for?” deal.  I called the top-secret phone number the nurse I have been seeing for years gave me and she answered.  I was so happy.  I told her they were doing the same thing and I needed help.  She said, ignore them and let me get it straight for you.  She called back with my appointment time and everything was great.  I had to take off work in order to make it work because they don’t see anyone on Thursday for some reason.

So, my husband decides to go with me even though he usually does not.  We get called back and a lady takes me in the direction of the lab.  Already starting off wrong.  I ask what labs are ordered and she says the typical.  I tell her that I usually go to the nurses first and she stares at me and tells me to have a seat.  I ask her to clarify what labs are ordered, and ask her about the ferritin test.  She says it isn’t there.  I politely tell her a CBC does me no good really.  After much deliberation, she asks me what she is supposed to do about it, and I politely ask her to get the nurse.  She tells me to wait in this little room with my husband.  My husband knows what a hard time I have with the lab techs, and tells me I should write a note, or complain to the person in charge, etc.  I say in undertones, as the other patients are looking at us, that it would do no good as I am not the usual case.

I get escorted back and eyeballed by people like I have committed a crime.  I did not go to the lab.  Yup.  That’s right.  The nurse gets my vitals and tell me that the physician’s assistant will be with me in a moment.  My husband and I continue our discussion for a moment as he tells me more advice on how to handle this.  I’m sure it was good advice had I been listening, but considering he doesn’t have to deal with this, I tune him out.  Luckily, the PA comes in at that moment.  We discuss the phlebotomist in the lab and how her behavior was.  I get told to ignore her as the next time I come back, there will be a different lab person anyway.  The PA is cool as she tells me she understands that I know my condition better than others and let them look at me funny when I tell them that I need to speak with the nurses.  I ask her if there someway to please put in my file that after 13 years, I go to the nurses first.  No can do.  Too many screens.  What one person sees, another person doesn’t see, etc.  Brilliant!  Love modern advances in technology.

Here comes the exciting part, so get your popcorn.  I go back to the nurses area.  This area is designed to make cancer patients feel comfortable.  There are 3 sections and many armchairs with pillows in each section.  Tall IV stands are beside each chair.  On a busy day, every spot is filled up.  I got here early as there was only one other person in the section I was seated in.  Apparently, they have divided it up by doctors now and each doctor has their own nurses.  I get someone I have not seen.  Sigh.  I ask for my regular nurse only to find out she is off today.  Double sigh.  Eventually, this person comes over to me.  My husband is in the chair beside me and he holds my hand.  She starts by making the tourniquet way too tight.  Then remembers to check my blood pressure.  I let her do her job and try very hard not to tell her the usual way it is done.  She wipes down my forearm and I begin to worry.  That is not where my best vein is…hope she gets this right.  She slides the tube in my vein and it hurts, but I don’t flinch.  I never do unless they really hurt me as she was already shaking so I try to act like I am okay with this.  Secretly, I am not okay as I can already tell something is wrong.  She goes to get the blood and it doesn’t want to come out.  Great.  She pumps the vial and manages to get a little to test.  I am hoping that is enough, but apparently it is not.  Luckily, she grabs someone I know.

This nurse is in the other section and recognizes me.  She comes over and flushes my line and tries to fix what this lady did, but doesn’t have much luck.  The other lady is hovering and watching.  I casually mention that it would be best to put it higher up and they apologize for having to start all over again.  They get the big needle out and always say “big stick” like that helps me prepare.  Lady, I have to deal with this the rest of my life, let’s just do this.  Finally, the blood starts flowing.  I fill up a few vials.  Two hours have gone by at this point.  Eventually, the PA comes over and they realize I can have my pint of blood taken.  The first nurse comes back and starts my bag.  I almost forgot I get free soft drinks and crackers.  The place is starting to fill up and I wonder how my husband is doing.  It occurs to me that I don’t bring him for a reason.  I don’t want him to see this.  I think that’s how my grandmother felt when she went by herself.  I listen in to other people’s low conversation as this one man seems really happy.  That makes me happy.

Which brings me back to the thought that I am still lucky.  So I look down at my bag and it is 3/4 full so I ask the nurse if I can be finished now.  I am a bit light-headed, so she gets me an IV started.  I look over to my husband and I really want to leave now.  I am pretty tired.  Three hours later, we get to leave.  On the way home, I ask him to stop and get me a burger.  It’s the little things in life-like a cheeseburger with extra pickles that help.  That and the fact that when we get home, I get to sleep for the rest of the day.

“Rest when you’re weary.  Refresh and renew yourself, your body, your mind, your spirit.  Then get back to work.”  ~Ralph Marston


As we left off, our heroine was fighting things she couldn’t see with sub-par weaponry.  In other words, it would have been nice if my doctor had thought to look further into my serious life threatening disease.  However, she was very busy patting my hand and looking for more of those neat blisters I had.  Seriously.  It’s like being a brightly colored bug that is discovered by an entomologist.  I started doing my own research and had to remind everyone to test my ferritin levels plus perform a new test I had discovered called transferrin saturation.  I figured out that if my transferrin saturation was greater than 45%, my liver could be in serious condition.  I asked for a whole panel of work ups on everything.  I found out that I could be highly susceptible to hepatitis C, liver damage, and cirrhosis of the liver.  So, on one of these occasions when I was having my blood drawn and the doctor happened to come by and see me, she asked me how I was doing.  I told her I was completely and utterly exhausted.  Apparently I was suffering from chronic fatigue, which made her think she needed to run this supplemental blood test.

Now, I can’t recall the exact year at this time in my story.  It was after the birth of my first child, which means that I have been in treatment with this doctor at least three years.  The point I am making is that the test she was about to do could have been done when I first started treatment.  She said she thought that perhaps I had hereditary hemochromatosis.  Naturally, I proceed to make a phone call to a friend in medical school.  I ask him what he knows about HH, and to paraphrase “Oh, you don’t want that shit.  That’s some bad stuff.” Ha.  So, I look it up and find this:

Patients who do have symptoms may experience:

  • muscle aches and joint pain, primarily in the fingers, knees, hips, and ankles; one of the earliest symptoms is arthritis of the knuckles of the first and second fingers
  • chronic fatigue
  • depression, disorientation, or memory problems
  • stomach swelling, abdominal pain, diarrhea, or nausea
  • loss of body hair, other than that on the scalp
  • premature menopause
  • gray or bronze skin similar to a suntan
  • heart problems
  • diabetes
  • enlarged liver
  • increased susceptibility to bacterial infections

To quote the Church Lady, “Well, isn’t that special?”  As soon as I read the symptoms, I knew I had it.  It didn’t matter what the test said, it all fit.  Luckily, you can get it under control with phlebotomies.  Since I was a pro at having my blood taken at this stage, I was okay with having blood taken for the rest of my life.  Wait a minute, hold everything.  The word hereditary is in there.  All this time I have been blaming myself for everything that was happening and now I can blame someone else.  My parents.  As soon as I got the results back, I called them.

Truthfully, I do not hold them responsible at all.  After the birth of my second daughter, I took both of my babies to CHKD to see a genetic specialist.  We had them tested for the disease.  The test only became available in 1998, and by this point it was 2002.  My parents were very supportive and my mom researched everything like a mad woman.  When I slacked off because I was tired of going for check-ups, she reminded me to get my levels checked.  When I stopped asking questions, she went with me and asked some of her own.  When I had a drink of wine, she asked me if I should be having that.  So, we all prayed that the girls results were favorable.  I studied biology, so I knew that the chance of carrying the HFE gene was high, but as long as they only had one, it would balance itself out.

Finally, we get good news.  Our girls are only carriers.  My husband has no history of the gene.  So I proceed to pester my entire family and ask them all to get tested.  I seem to recall my father’s doctor did not want to do this test for some reason.  Nevertheless, we finally all get our results.  Both parents are carriers, thus producing one child with it, and one without it.  Did I mention I hated that portion of my biology class?

So now what?  I could make this longer, and perhaps I’ll come back to this topic later, but for now I’ll end this portion by saying it has been thirteen years since all of this started.  I do not hide in the house during the day, but I do wear large amounts of sunscreen in the summer months.  I encourage all of my friends to ask questions and don’t give up on your quest for a healthy life.

“If you are going through hell, keep going.”  ~Winston Churchill

Summer of 1998

As I ended my last blog, I mentioned I had approximately 3 months to get “better”.  Let me explain.  There is no cure, so my idea of getting better was to get my condition under control.  Maybe you have never felt your life spiral out of control, but I can tell you that it is a scary feeling.  I believe in fate, destiny, and above all else God.  I started looking back at things that had happened to me over the last few years in college, and I realized that it could be worse.  When I said I knew I did this to myself, I did.  I started having beverages, let’s call it that, at age 15.  It wasn’t a secret.  I thought I was drinking “responsibly” as my parents knew.  I did not drive anywhere while drinking, but I hung with an older crowd, and then I went to Spain for a trip while in high school, and had my mom write a note saying I could drink sangria while on my trip.  In college, I pretty much did the same thing, and maintained such high grades I was asked to be in two honors fraternities, one service fraternity, one sorority, serve on the student council, become a student ambassador, tutor students, and take a class in Europe for a few weeks.  Sleep much?  No.  Who needed sleep.

All of this caught up to me I thought.  By my last year in college, I could sleep all day long.  My limbs felt heavy and I needed complete darkness.  I no longer wanted to get up and go to early classes, which was not like me.  I was tired beyond belief, and exhausted to my core.  Luckily, I had already met my future husband.  He let me sleep and took care of me.  We went out less, and stayed in more.  I had no idea that was just what I needed, and that my other lifestyle was literally killing me.

Now, back to the summer of 1998.  The dermatologist sent me to a new doctor.  One place I didn’t really want to go, but apparently, the only place that help me.  The local oncologist who just happened to be an expert hematologist as well.  I could drag this out and tell you about this in much more detail, but I won’t.  I am not a medical professional; I am merely telling you this from my perspective.  It’s hard to unwrap your feelings when you have suffered the loss of someone close to you from cancer.  Going through those doors into that building was very difficult.  Then I went back to the lab, where big signs were posted about no children beyond this point.  I guess they didn’t mean me.  I follow a nurse to the back, where everyone is looking at me.  Yes, I feel that way because I have a full head of long hair and I am young.  I sit in a reclining chair near someone, and I want to cry.  Not for myself, but for them.  I am not thinking of myself at all, and think how ironic it is that I am here.  No wonder my grandmother never let anyone go with her.  We are strong women.  I can do this.

A nurse comes over and sticks me with a huge needle.  One of the biggest and most painful to slide under my skin, but I got this.  I am fine.  Going to get “better”.  She hands me something to squeeze and the blood starts flowing into the bag.  I watch with mild interest until I get light-headed as it apparently left pretty fast.  One pint down, many, many more to go.  I get crackers, some soft drink, and she puts my feet up.  This is how it goes every single week.  One pint a week.  Lab results, Doc coming to say hi, getting to know the office staff, and nurses by name.  There was a time when I had to get in the bed for one of my visits as I just didn’t want anyone around me anymore, and I asked if I could just please have the quiet room.  I was new to all of this and got tired of people looking at my pint of blood since I was the only person having that done in a room full of people getting clear fluids.  I think that was the time I almost fainted.  I kept going anyway.  This was not going to stop me.  I got this.  I can do this.  If my grandmother could fight, so could I.

During all of this, my mom took me to find gloves so I could sleep at night.  We bought every cream on the market to stop itching and none of it worked.  I slept with gloves on my blistered hands.  I looked at the scars on my arms and prayed they went away in time for my wedding.  Oddly enough, I modeled my wedding dress after my grandmother’s so it had long sleeves and a long veil.  In the hottest month of the year, I picked a dress like this before my condition came out.  Things happen for a reason.

Slowly, the phlebotomies started working.  Since there is no cure, you must have pints of your blood removed throughout your life.  Since this is getting longer than I intended and I have shared more than some of you wanted to know, I will end by saying I made it to my wedding day with no blisters on my hands.  If you looked closely, you might have seen dark patches where they once were, but no blisters remained.

Two years later, we had a healthy little girl.  Sometime during this time period, the doctor realized my iron levels were still abnormally high.  I would be tested again for a new disease.  One that made all the pieces fit into place.  But that’s another story.

“Life is not easy for any of us.  But what of that?  We must have perseverance and above all confidence in ourselves.  We must believe we are gifted for something, and that this thing, at whatever cost, must be attained.”  ~Marie Curie

1998 lingers on…

So, I can’t recall all of the diseases I was tested for at this point in my life, but enough blood was taken from me to perform several tests with really long names.  At best, I remember thinking that none of them sounded good.  Porphyria Cutanea Tarda stuck in my mind all the way home.  I had a bad feeling about it, and I knew what that meant.  After looking it up and reading about it, it struck me as odd that things I found important in my life right then would be the very things I could no longer have.  Alcohol.  Seriously…no alcohol?  You haven’t met my family.  Sunlight.  SUNLIGHT.  This has to be wrong.  Lastly, birth control.  Aww, hell no.  There is no way I have this.  I am about to get married, and go on my honeymoon.  While reading about this disease, my parents tried to console me as best they could, but we all knew I had it.  I took the 24 hour uroporphyrinogen test.  Get ready for the results.

Normal people have anywhere between 50-300 milligrams in their urine.  I had 1500 milligrams.  I also had a ferritin test (a protein synthesized by the liver and is the primary form of iron storage within cells and tissues), which showed my levels as being over 550 at the time.  Again, way above normal.  Honestly, you almost have to be a doctor to understand most of the research I have found.  Some of the most interesting lore I have found suggests a link between PCT and vampirism.  I can assure you that I do not sparkle when I go outside.  Anyway, I digress as usual.

At the time that I was diagnosed, there were seven different types of porphyria.  The word itself is derived from the Greek word, porphyra, meaning purple pigment.  Here is where the pieces start to fit together.  What was the most noticeable change?  My urine was dark burgundy.  Wonder if Vlad the Impaler noticed a change in his?  Now, I am not a doctor, but I have studied words.  Cutanea means skin, and tarda means late.  I am told that this disease presented itself early.  I already knew why.  It wasn’t a surprise for me when I looked back at my youth.  Ha.  I was still all of 23 years old thinking this.

As the sunlight filtered through the trees, I put my head down on the windowpane and let a tear slide down my cheek.  A butterfly danced by on his way to visit the many flowers on my parents back porch.  I was getting married outside while the sun set over the water.  I had less than 3 months to get “better”, and by better it meant no burning of the skin.

“Through humor, you can soften some of the worst blows that life delivers.  And once you find laughter, no matter how painful your situation might be, you can survive it.”  ~Bill Cosby

The year was 1998…

Urine.  What a fun topic.  Well, as I said in the beginning, it has to happen to someone, and as it so happens, it already has.  So, here I am trying to get over my first health scare of a new year, only to find something else wrong.  I go back to my gynecologist as I figured something was dreadfully wrong with my prior condition.  Maybe I just have a urinary tract infection (UTI).  It was the first time I can honestly say that I hoped that was the problem.  On this occasion, all the tests came back normal.  If I had been someone fictional like Dr. House, perhaps I could have sorted out my symptoms right away and made a great big flow chart of some sort or bounced a ball to find the right answer.  I would have realized that when I was working, I got cut easily and started bleeding all over without realizing I had even hurt my hand. I might have noticed I had thin skin when some of it came off in a horrible way (painful).  Additionally, I would have realized how extremely exhausted I had become, and perhaps planning a wedding during all of this, should not have made me so tired.  However, I was working for the first time after college so I wanted to make a good impression, and I let things go.  I was puzzled by these oddities, but since I was still dealing with the cervical issues, I failed to notice how strange things were.

All that changed when the blisters came.  The painful bubbles started appearing on my hands and some grew to be the size of a dime.  You might think this is an exaggeration, sadly, it is not.  The welts would pop open and leave painful scars for weeks and the skin would be tight and itchy where the blisters had been.  Did I mention I was getting married?  Think wedding portraits.  Ha.  Anyway, I go to my primary care physician at the time, and she looks me up and down.  She says she has no idea what is happening to me, but she knows of someone who can help.  A dermatologist.  Somehow, I get penciled in.  At this point, my hands are hurting me so badly at night I get little to no sleep.  The skin itches constantly and I am in pain.  My life is falling apart and I am only 23 years old at the time.

I sit on the crinkly paper and wait for a doctor who I hope will have answers.  Telling a story I had told twice, and hoping that this third time was a charm.  As she looks at my face, arms, and hands, she gets a worried look on her face and asks if her colleague can come take a look.  Sure, the more the merrier.  He comes in and mentions he is also her husband.  They haven’t seen a case like this…well, maybe ever.  The good news is that they happen to write a paper on it in medical school.  They whisper in undertones and I hear all kinds of strange-sounding words.  Latin I think to myself.  Great.  Just great.  This can’t be good news.  They seem to notice I am still in the room.  Since I ask a lot of questions, I get right to the point.  Please tell me what I have.  They seem calm when they tell me that I might have porphyria cutanea tarda, but don’t look it up.  Famous last words.  Don’t look it up.  They didn’t know who they were dealing with here.  Never tell me what I should not do.  Highly ineffective strategy.

“What lies behind us and what lies before us are small matters compared to what lies within us.” ~Oliver Wendell Holmes

New Year’s Eve…1997

Many people go through life without ever really knowing the people they talk to every day.  Some of you are so consumed by your own problems that you rarely have time to glance up and smile at the person you pass five days a week.  Day in and day out, that person says hi to you, but you barely respond as your own problems are so overwhelming.  I get it.  I really do, but all people have problems even if you can’t see it on the surface.

It’s New Year’s Eve and my fiancée  and I have plans.  I can’t remember what we were going to do, but I do remember the phone call.  It’s not everyday that you get told you have cervical dysplasia.  I had precancerous cells in my cervix.  Why am I telling you this?  Because at this time in my life, it was unheard of.  I remember being really scared, and whatever the doctor was saying became a buzz in my ear on the other end.  He said something about cryosurgery and other things I half listened to.  I had zoned in on one word, and one word only.  It had something to do with cancer.  My grandmother passed away when I was a senior in high school, and it was from complications due to breast cancer.  All I could think of was that I was too young.  Little did I know that the new year was about to be one of the biggest tests of my life.

I went ahead and got the biopsies, then the cryosurgery.  It was painful for a few days, but eventually things calmed down.  My 3 month check-up still showed irregular cells.  I went to another doctor who told me that in rare cases, a radical procedure would be needed.  Since that thought scared me as well, I waited and prayed.  I was not going to take the chance that I would not be able to have children.  I was getting married in the summer, and I knew I wanted babies.

While this was going on, I started having other weird symptoms.  My urine turned the color of port wine.  For those of you not familiar with what color that is, its deep burgundy.   Yup.  Fun stuff.  What was going on with me now?  Read my next post to find out.

“The only way to keep your health is to eat what you don’t want, drink what you don’t like, and do what you’d rather not.”  ~Mark Twain