Day 24. How Are You?

“So, how the hell are you, anyway, Heidi?”
“How have you been?”
“How do you feel?” (groan, eye roll from me.)

Time has been tick tick ticking away, friends.  My days depreciate.  I can feel drops of time drip past me, like silvery mercury flux, plopping, dripping medication from my IV bag.

According to the Ehlers Danlos Syndrome “genius” at Johns Hopkins, I have fewer than 3 weeks left to live.

I spend my days pretending I am not afraid.

My location has contributed to this mix of issues. Maybe you’ve wondered where have I been?

How are you?

I will tell you:  Little things bother me. For example, I am asked all the time: How are you?

You probably are as well, but I’ll bet the rent that your answer is in no way as complicated or as angst-wrought as mine, as exhausting. I am tired of talking about it. What can I say in response to the question?  I find myself stuck when someone asks.  Do you really want to know, or do you want the standard response, “Fine”?

If I tell the truth, I am complaining, even potentially worsening or lengthening my illness, since many people believe that talking about it perpetuates the sickness; if I don’t, I am furtive, suspicious, hiding something, not explaining my behavior…I am keeping it in, and thus deepening my own illness by not being willing to explore it. I feel as though I am in a stasis of damned-if-I-do-damned-if-I-don’t, though more accurately it’s dead-if’n-I-do, dead-if’n-I-don’t.

How am I? Well…..

Lungs Like Luftballoons

Sing with me: “99 Red Luftballoons….” If you don’t know the words in German, just click the link above (Lungs Like…) and hum along with the song.

You may remember that I have these pulmonary embolisms, the blood clots in my lungs.  So I finally went to get my lungs checked out by a pulmonologist, Dr. Dreamboat.  He turned out to be FANTASTIC.  It also turns out that PE’s (swanky medical slang for pulmonary emboli) are a genuine medical emergency. He put me in the hospital for a week (oy vey–there’s a whole post coming on that), horrified that the geniuses at Johns Hopkins would not have done that immediately (or directed my doctors here to do so) six weeks ago.  (Parenthetically, I should point out that my brother has checked me out and been not overly concerned.  He deals with pregnant women who frequently get PEs because their blood may have a tendency to clot more frequently than usual.  He said he can recognize when a person is “crashing” with PEs, meaning someone who is on a rapid course downward of shortness of breath.  However, he lives two hours away and is really busy.  Unfortunately, I am not rich enough–yet–to hire him as my personal 24-7-365 doctor.  But I’m just sayin’, he would not have allowed me to “crash.”)  Even so, I felt hoodwinked by Hopkins doctors; their negligence could have cost me my life.

Anyway, I am glad I did some research and found someone great here. Dr. Dreamboat is a Pulmonologist, a lung expert who deals with the intricacies of this disease, and by the time I got in to see him, I had begun to have some fairly consistent shortness of breath, which felt to me like my asthma had suddenly become quite serious.  What else could I compare it with?  I had no idea that might be serious. The fatigue, too, had become just overwhelming. “No wonder!” I kept saying, when he finally diagnosed me.

In the hospital, they performed numerous tests on me and put me on IV Heparin, a blood thinner, right away. Blood thinners are good because they dissolve those Luftballoon clots in one’s lung quickly. However, for someone like me, whose skin bruises and rips easily anyway, taking a blood thinner has the potential to be hazardous.  In my last posting, I described walking into my living room end table and the damage it did to my leg. It was a blood bath, and that was before the blood thinners.I can’t imagine that accident if it were to take place now. Not to mention, it took place five weeks ago, and the wound is not even close to healed. I don’t dare ask what happens if I were to need emergency surgery.  My brother has talked about emergency c-sections on women on blood thinners as harrowing experiences; basically, the patient may bleed out much more easily.  Yikes.

Because blood thinners have such dire consequences, my brother talked with Dr. Dreamboat for over an hour the first time, debating the properties of the various blood thinners.  He pointed out the another critical variable:  I react to drugs in bizarre ways. My drug allergy sheet is a page long, typed.  ONE PAGE.  So, the first one I got was that IV Heparin, pretty standard stuff for a hospital patient who needs anti-coagulants.  I didn’t complain, but as soon as I began taking the medication, my thinking became fuzzy.  All I did was sleep in the hospital. I mean, wake up, take a sip of water, and go back to sleep.  I didn’t call anyone or communicate much with my family.  How embarrassing, too, when my mom came and when two girlfriends came, I couldn’t keep my eyes open while I spoke.  I felt drugged.  This is how drugged I was:  My mom brought me my new iPhone so that I could set it up and play with it, but I could not keep myself awake long enough to sustain the thought process involved in doing it.

Washing Windows

Thank goodness they found another aneurysm — a pseudoaneurysm — on my carotid artery (the hyperlink on psuedoanuerysm is extremely helpful; alert readers might be interested to note that it is written by one of the world’s experts, if not THE expert, in vascular surgery for VEDS people.  I respectfully refer to him here as Dr. Mean, who bestowed the expiration date on me — thus Day 24 today.). Well [shiver], typically I wouldn’t be so joyful about having yet another aneurysm.  But my mom reminded me that I knew about this one; I find it described in one of my first MRI reports in 2008 as a having beaded appearance, as though I were wearing a string of pearls up the side of my neck.  But that finding was considered insignificant.  This time, apparently, it’s large enough to be noticed. Not a big deal, in comparison with blood clots on the lungs, and the aneurysms on the Superior Mesenteric Artery — just under the aorta — and the ones on the Renal Arteries, but just another in the long list of potentially fatal illnesses I seem to be collecting.)

When I read Dr. Mean’s definition of pseudoaneurysm (and its treatments), just now, the seriousness of it made me want to vomit into my shoes.  Times like those are the tiny minutes that remind me I really am going to die early, and all those people whose Uncle Bobby Joe who had VEDS and lived to be 72 didn’t have the kinds of aneurysms I do.  The reason I don’t encounter older people with lots of aneurysms is because there aren’t any.  Don’t worry, though.  It’s been a long, long time since I have thought about this.  And I have to let it go right away.  It’s like being a window-washer on a high-rise.  I have to remember not to look down.

So back to the blood thinner.  They took me off of the IV Heparin prontissimo once they saw that problem on the carotid.  If you have a rupture on the carotid artery, well you can read here about what happens (scroll down to the middle of the page, where it talks about the “Carotid Cavernous Fistula.” UGH.)  Now, thanks in part to my brother’s lengthy negotiations with Dr. Dreamboat, I have to administer shots of blood thinner into my stomach every morning…for six months. That sounds awful, but it is extremely mild, the mildest of the anticoagulant choices.  Still,  I feel mush-brained, just different from before. This sort of side-effect is not listed in the flyer (or on sites like rxlist.com).  As usual, my response is “special.”

Lovenox, the medication I take, is no prize. I won’t even get into the discussion about the asthma symptoms I get from it.  I just use the nebulizer and shut my trap. (I’ll say more about that another day.  This is entirely too long right now.)

Attitude of Gratitude, because Gratitude is Fatitude

All I can do now is focus on doing my best.  My best on most days thus far our of the hospital has been making my bed.  I get there on about 3 out of 5 days. Mostly, I am working on getting out of bed at all.

Will it surprise you to know that all these things combined are causing me to feel despondent? I’m just OVER complications, difficulties, wrinkles in the plans, and being cheerful about all of it:  “No, really, everything is fine.”  No it fucking isn’t.  It infuriates me. That has to be part of the reason I am not so chipper-dipper cheerful anymore, what do you bet?  Please those of you who are cheer-oriented, I do NOT require a suburban cheerup effort.  I am simply explaining that some days I want to holler, “Enough is enough, for crying out loud,” and  “I hate you!!” to this illness that opens its fierce mouth and swallows up whole days when I feel horrible, and whole nights when I pace the floor and cry.  It used to be that I could become a little upset, but then the voice of reason inside me would eventually bring me back to cheerful stasis. Maybe my problem is that I don’t hear the constructive echo of a resourceful voice inside me anymore.  I mean, damn.  How many curves in the road can a girl take??

Those curves in the road are dangerous whether or not I am driving:  they send me down perilous mental highways with signs that burn their images into my brain.

You will never own a house.

(whereas your friend x has already own five, and she is hardly middle-aged).

Failure!  You will NEVER have children.

You can’t remember anything! You look like a fool!

Lights will go out any moment.  Permanently.

With those I confess the true dark nights of my soul.

Luckily, the light does still come back on when the sky is blue and the leaves are on fire with red and orange.

So on days like today, when I bound out of bed with something that looks like energy, I feel true gratitude.  I’m honestly disappointed as shit that I am not coasting into my 48th birthday on a victory lap, with a load of finished paintings and more advanced artistic ability, and a completed book drafts. I can remember happy feelings about even the smallest of accomplishments, though, until I get back to the doctors (who, I probably don’t need to point out, are the ones charged with keeping me alive, but aren’t they also charged with making me feel better?).   I am afraid because of the seriousness of this last dance with the disease. I  know this has been a serious bout, because of the way this week’s many doctor appointments played out.  I visited the pain specialist on Wednesday, and when they took my history, the nurses got that quiet, sad-eyed “You’re in serious trouble” face that you NEVER want to see.  Then, when the doctor came in, he did the same thing.  That’s just a bit unsettling.

My main gratitude extends to my mom, who knows that the only cure for my kind of howling fantods of angst involves vegan, gluten-free pumpkin cake, cookies, and pumpkin cheesecake.  Food is love.  That’s how I’m holding up.  Gratitude is Fatitude.

* The doctors that I can find that are truly great are gems; I find them with a great deal of research or by recommendations from trusted doctors or other clinicians.  The ones I see are located in the D.C./Northern Virginia/Maryland Suburbs.  Please comment on this posting if you would like me to share the name of one of the great doctors I go to, like Dr. Dreamboat (he is, unfortunately, married).  

 

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Day 207. What to Say to Someone Who is Chronically Ill

 What to Say To Someone Who is Chronically or Gravely Ill

A few firsts: People who are sick, particularly the ones who aren’t going to get better, make many of us uncomfortable. Some visitors are squeamish because there’s an unconscious fear that even a genetic illness will be somehow contagious–they just prefer not to be around “sick energy.” It’s okay to get in touch with your own feelings about this sense.

Visitors are uncomfortable as well because those “hang in there because you’ll soon recover” kinds of comments we all have been taught to bring to the sick room simply are not appropriate with someone with a lengthy illness.

 Even if this is someone you have known for a long time, and maybe have had easy conversation in the past, perhaps suddenly you find yourself tongue-tied because she is different. There she lies in the bed, small and afraid. What the hell is there to talk about then? Or the co-worker who you shared an office with suddenly is in a full body cast. He may not be able to return to work and he’s only 45. What to say?

While things may seem different on the surface, remember that the essence of the person you know and love is still the same. Those changes and shakeups are massive for the person who is ill as well, so the biggest favor you can do is to be yourself.  If you are the kind of friend who is serious and always talks politics, then maybe that’s what you’ll want to do.  If you always tell each other jokes, well, then by all means, tell a few jokes (but try to leave ones about sick people out). Let your presence open a window and let a ray of sunshine in the room.

As you do it, know (or say) these things:

  1. There isn’t anything TO SAY. Know that there is nothing you can do. No one expects you to, either. If this really worries you, ask yourself who made you so important? It always cracks me up how a visitor can walk into situations where someone is sick, where he or she intends to help, yet ends up drawing the attention to him or herself by wailing: “Oh, I just don’t know what to say, Frances…..I just don’t know what to do….”.Okay, I have an idea for you, then: Stay home. If you can’t figure out how to act or talk, then stay home. Seriously. Figure out a sentence or something that you can contribute during your visit so you can stop that silly act. It’s not about YOU.There’s a lot of freedom in this hard truth. There is nothing you can do to make the person better. Leave that to the healthcare experts, unless you are one: one thing that becomes extremely tiring is when people second-guess the medical care the sick person is getting. Sometimes he will ask a good friend’s opinion, but otherwise, leave the suggestions alone.
  2. Walk a mile in my shoes. Think about what YOU would want to hear if you were the one with your foot in the air.It’s so hard to know what to say when you can’t feel the pain or make it go away, and you wish you could (you can tell your friend that you wish you could make the pain go away, if you mean it, but only so many times). Instead, imagine yourself in that chair with your foot up on a handful of pillows and feel the electric nerve pain (get way cranky from it, too). Now, what do you want to hear from people? I’ll bet you will think of something nice, straight from your heart.If you really did put yourself in that place, it may have occurred to you that in that cranky space, you don’t want to hear too much of anything. Tell a joke (maybe a short one). Do something you would normally do as friends: watch a movie, eat popcorn, gossip about other friends, play a video game, play blackjack. Whatever. It doesn’t need to be momentous. But when you don’t feel good, too much of anything is exhausting.
  3. Is this a good time?” (better yet, make very sure to schedule your visit). Sick people have trouble sometimes with drop-in visits. Sometimes they have trouble with scheduled ones, if their bodies aren’t cooperating. Make sure to ask if it’s a good time, and offer full forgiveness for rescheduling.
  4. How are you?” This is just fine, as long as the visitor says it in just the same way he would say it to another friend, and not in a worried tone with concerned eyes. Once again, walk a mile in my shoes. How would you like people to get all worried and say, “How are you, old chum?” forty-two times a day? But somebody coming in and saying, “Hey! How are you?” all cheerful might really cheer a person up. It gives the sick person permission either to talk about his illness if he needs to, or wants to, or just to gloss over it, if he don’t feel like it. Take the hint from which way he heads on that one. Got it?
  5. I understand if you don’t feel like talking about being sick.” Seriously. There’s no …but… after the “sick” in that sentence. Throw that sentence in any time the conversation gets personal. Please don’t “pump” for information. Your need to know is not more important than the comfort of the sick person, which is why you came in the first place.
  6. Hey, I brought cards (Yahtzee, Jenga, whatever) with me. Are you up for a game?” I love this. It takes all the pressure from the visitor (whew!) as well as from the sick person at the same time. Of course the sick person can always say, “Sorry, I am not up for that today.” But you still look really cool for having thought ahead and brought something fun to do. If you do end up playing, though, be prepared for play to go slowly, and be understanding about memory errors and the like. Whatever happens, sometimes the comfort of game time allows the sick person to open up and talk about what’s bothering them. Listening is all you can do. Remember, there are no solutions to what is happening.
  7. “I’ve got a coupon for a free car wash in my pocket. Can I take your car for a wash?” (You may have to stretch the truth on the existence of that coupon, but it will be for a good cause.) Getting things done for someone with a chronic illness like Rheumatoid Arthritis, Fibromyalgia, Traumatic Brain InjuryEhlers Danlos Syndrome (or any of the many chronic pain diseases) can mean that their day can last longer. I know that I am good for one event every day. My exhaustion tolerance allows me to handle driving, getting out of the car, dealing with whatever is there, and getting back in the car, one time. Then I’m finished for the day. When I do it twice in a day, I’m usually out for the next day or two. I am sure I speak for many when I explain my situation. So, by doing something that is relatively meaningless to an able-bodied person, it’s almost like creating a whole extra day in the week of the chronically ill person.
  8. Did you get an invitation to the x party? I’m going, and I’ll give you a ride there and back. I’d be happy to leave whenever you want to—in fact, I wasn’t planning to stay long at all.” I learned this from a friend of mine. If it weren’t for him, I wouldn’t get  to parties at all. Getting ready was challenge enough; driving downtown, finding a place to park, etc., etc. were challenges that seemed beyond my abilities. So when my friend, Jarrod called and offered to help, I started being more social. (Other friends followed suit.) Offer to help a friend get somewhere fun.
  9. “What’s your favorite movie/book/food, etc.?” It’s great to bring over some fun thing to eat or do, which you can leave with the person after you’re gone. I still have great movies and books people have brought me when I have been very sick and hospitalized. Take care to find out about food allergies common among the chronically ill. When I was in the hospital for five weeks, people were so kind and found out that I couldn’t have flowers in my room, so they sent Edible Arrangements of fruit that looks like flowers.  Yum!
  10. “This has been lots of fun, but I have got to run.” Huge mistake people make:  thinking sick person equals lonely person. When I come I am obliged to stay all afternooooooon. Oh, please don’t do that to a sick person. Here is the rule: Don’t stay too long. Don’t stay too long. Don’t stay too long. Have one conversation, maybe let the subject change once.  That’s enough, unless the person asks you to stay longer, or if the game is taking longer and she is enjoying herself.  You can ask, “How are you doing?  How is your energy level?”  But speaking for myself, it is very difficult to be honest—or to assess oneself properly.  A chronically ill person who is having a good time can easily miss the signs of exhaustion. After an hour or so, suggest that you can come back and finish the game another day.  You’re a great friend for coming to visit!

Day 218. Positive(?) Results

Greetings.

As happens with technology I spent a long time making a great looking PDF that should load when this blog opens up.  Now it won’t do it, even though the YouTube I watched shows that it does so seamlessly….so, I must ask you to click on this link to see the pretty file.  See what you think of the information, and don’t forget to hit the back arrow on your browser to make comments if you have them.

march 26, 2012 COL3A1 POS

Day 246. Weighing the Pain Scale.

One of my favorite bloggers, an amazing college student, writes Simple and Well, a blog about her experience with Hypermobility Ehlers Danlos Syndrome.  It differs from the type I have (Vascular); each of the types shares the main symptoms with the others, the identifiable ones being hypermobility, skin fragility, joint pain, etc.  My symptoms of hypermobility appear on a small scale (causing joint pain), while the activities of daily living cause this blogger’s joints to sublux, or to come out of their sockets.  Rolling over in bed, for example, may cause her hip to come completely out of its socket.  Her shoulder, she writes, has the tendency to “pop,” as do her ankles.

So what does she do?  She tapes up her loose joints for support and goes swimming to get a good workout.  That is one tough young woman.  She is my current hero.

Mosby Pain Scale

Last week, she wrote her own version of a pain scale.  If you haven’t spent much time in the hospital of late, you may not be familiar with the Mosby Pain Rating Scale that incorporates the McCaffrey 1-10 scale numerical reference with words along with the Wong faces scale (image right). I’m particularly fond of the faces of misery that accompany the numerical scores for those of us for whom numbers are particularly meaningless.

The pain scale is a good idea as an attempt to quantify and measure pain empirically, when viewed from the perspective of the nurse, doctor, or pharmacist.  One must measure the pain to treat it. However, from the perspective of a patient, those faces of misery seem laughable. How can they possibly measure pain, an entity that is unquantifiable and incomparable from person to person.

I’ve often thought about this when I have confronted those infernal frowning faces in the hospital or the doctors’ office. How does mundanity of my daily #4, “Hurts a little more,” or on the McCaffery Scale “Moderate,” have any mathematical, or for that matter existential association with the things-are-getting-worse-ness of a #6, “Hurts even more” or on McCaffery still “Moderate.” In fact, I’m still “Moderate” until I am a #7 on McCaffery, which is a long time before a medication decision might be made.  But by the time I am a #7, it may be too late to take a moderate dose of medicine because it is important to treat pain before it becomes too serious; otherwise, it is very difficult to manage.

The rating system becomes more complex because sometimes my leg (where I had an aneurysm rupture) may feel like that face above the #6 “Hurts Even More,” but the rest of my body is pretty okay.  I can manage having that pain better than some other days.  Thus, I can manage taking less pain medication than I would take on a day when I was feeling a #6 AND every joint in my body hurt on top of it.  I wish there was a #6+ or a #6J-with feeling.  That, to me, would have some real empirical value.

Still, I was pretty sure learned from my venture into pain research that I am a big, fat baby. If I were to follow my favorite blogger’s pain scale, I believed that the numerical scores I would assign myself daily would be dramatically lower.  I quite frankly assign pain scores the way America assigns grades on English papers: in a ridiculously inflated fashion.

I have spent the last week or so wondering what that inflation says about me. Do I misunderstand the pain scale? Am I malingering for attention? Love from doctors?  More pain pills? I worry about these things constantly.  I am a baby, no question.  If I just powered through this, I would have less pain.

So then I had a epidural injection on Friday. I absolutely detest getting them, as I guess anyone would hate having a needle poked into a vertebra and into the nerve.  So the doctor uses an X-ray machine to find the nerve precisely; then he injects me with enough local anesthetic so that I don’t jump off the table.  Then, he stimulates that nerve to make sure he has the one that is causing the leg pain—so I feel not exactly pain, but just sensation all the way down my leg and even in the foot where it hurts.  Then, he injects tons of anesthetic, followed by cortisone (which will hopefully block the pain for a few months, until he does it again).

The payoff for the misery of having the injection is standing up and walking off of the operating room table:  about an hour of pain-free walking around.  It hurts like hell in my lower lumbar, where he poked me, but I don’t care.  My leg doesn’t hurt for the first time I can remember.

My doctor’s office building is in Bethesda, kind of a tony address; right across the hall from his office is the snack bar, where one can find the expected coffee and candy bars.  However, the reason we drive 45 minutes to Bethesda instead of seeing the doctor five minutes away in his D.C. office is that the Bethesda snack bar also sells Swarovski crystal barettes and hair things, as well as designer knockoff purses (not that I would ever buy one of those).  So I have about a half hour to walk around this store without having to figure out a way to stand on one leg, or lift it up bent and rest it on the other.  The important thing is, I never even think of my leg this whole time, not how my shoe feels, or whether my sock is cutting into me, how long I have until the pain pill, not one thing. When this happened, I realized that I am not exaggerating when I say that the pain never goes below a #4, even with three narcotics.  When I had a complete nerve block with anesthesia, on an otherwise pretty good day, well now, those pain faces smiled for quite some time.

“Loosey Goosey,” the blogger of Simple and Well, tells me that someone has gone to some trouble to write a better, more sensible comparative pain scale.  This one has some good points; however, I think it is skewed to the lower side.  According to this scale, #5 is pretty intolerable (like trying to walk on a sprained ankle). Uuummm…okay.    Call me inflated all day long, but that just has a lot more seven-ness than five-ness, for me, folks.  Some of the distinctions made to explain the pain, though, are so clear and so apt.  For example at #6, it becomes difficult to hold a job.  Yes!  So clearly it does.

Without a doubt, if the aim is to standardize the description or definition of pain, then more work remains to be done on standardizing the pain scale.  Being able to describe or define your pain may seem esoteric to you, but if you’re in the hospital, in pain, you may find yourself at the mercy of healthcare givers who are suspicious of your motives.  One thing to keep in mind (I learned this thanks to Cathy, who sent me a very interesting journal article): beginning in March 2012, hospitals will receive large amounts of Medicare and Medicaid funding based on the patient evaluation scores they get on pain control.  That means that the government is requiring hospitals to do a good job at controlling your pain in the hospital.  I’m not even on Medicare, and I’ve been surveyed many times already.  So, whether you use the happy and sad faces, or whatever numerical score you devise for yourself, keep in mind, rating your pain may be vital to you in the future.

Day 286. You Can’t Study For a Genetic Test

So, I’ve been talking about my examination by Dr. Clair Francomano at Greater Baltimore Medical Center.

But. so. what were the outcomes?

Ehlers Danlos Syndrome (EDS) Testing (if you’re thinking, wait, wasn’t that her firm diagnosis already? Not genetically:  Dr. Francomano’s first recommendation is genetic testing for Hereditary Connective Tissue Disease (HCDT–these diseases include EDS, which is what we assume I have).  Thus they are going to analyze the COL3A1 gene for abnormalities.  That involved sending 2 vials of my blood to the University of Washington Collagen Diagnostic Laboratory. Academic Laboratories don’t work at the speed of your local medical lab that turns over your blood chemistry panel overnight (or in an hour in an emergency).  My results will take eight weeks or more (my academic friends will appreciate this breakneck speed).  Results are expected to show that I have EDS (and which variety, particularly; we assume the Vascular Type (VEDS) because of my aneurysms); or results may show that I don’t have the disease but instead have Fibromuscular Dysplasia (FMD), which is another disease that causes one to develop aneurysms — or, as the doctor suspects, both. By the way, if you’re interested, here is an abstract of a paper I just found that Dr. Francomano co-wrote, theorizing a new EDS version that includes both VEDS and FMD. Oh joy. Alphabet soup.

Having read that monstrously long more than thirty-page questionnaire I completed, and scoured my medical records, the doctor and her assistant saw that a 2010 body CT Angiogram had shown some “dilation of the aortic root,” not a good sign in a person with my aneurysm issues.  None of my fairly well renowned doctors had followed up on those findings. Dr. Francomano did, though.  There was something comforting, oddly, in her suggesting (prescribing) an echocardiogram.  And suggesting is what she does.  So kindly.  I couldn’t, wouldn’t, possibly say no.  She wants the echocardiogram to rule out [further] aortic root dilation, mitral valve prolapse, or any other structural heart abnormalities.  I think I’ll be fine.  But at this point, what else can I say?  That I am terrified? (I have an appointment on Friday Feb. 3.).

So of course I am to continue to have my regular CT Angiogram screenings at Johns Hopkins University at least annually, or twice annually if there are changes.  (Those are the body scans of which I have spoken to my friends.  In about 120 seconds, the CT scan machine scans my body and makes a perfect 3-D model of my body’s arteries below the neck.  It is incredibly cool.

However, Dr. Francomano notes that none of the previous scans have included the head and neck, and she asks that future screenings correct this.  I feel vindicated!  I have asked this question repeatedly at my screenings….”uh, how do we know that I am not getting a brain aneurysm?”  The answer has been a furtive, “Oh, you’re not a brain aneurysm type.”  And the Carotid Artery (in the neck) is one that sometimes explodes without warning.  It’s critical to monitor for any signs of difficulty, right?  God, I can’t tell you enough how much Dr. Francomano just makes sense(Incidentally, the answer is that it takes so much time and that it may take two appointments and that much more radioactive dye exposure.  Sigh.  Is that a good reason?  Why they can’t just do it all in 240 seconds is beyond me.  The geniuses at Johns Hopkins are sorting that out now — all because Dr. Francomano says so.  She rules.)

Can you imagine how having worries like that all the time weighs on a girl?  You leave the doctor’s office after the CT Angiogram thinking, wow, I’m not an expert in this at all, but they seem to have missed the boat when they didn’t scan my head and neck.  What if I have a brain aneurysm?  What if my carotid artery ruptures (you die within minutes)?  My body has the potential to form an aneurysm anytime, any place, anywhere.   When I asked about why they didn’t scan my head and neck, the doctors waved me away.  I used to cry on the way home from Johns Hopkins visits in Baltimore (trying not to let my parents see), not tears of self-pity, but sheer frustration.  There was nothing I could do.  That sums up my last three and a half years.

So you may understand why right this minute I want to nominate Dr. Clair Francomano for President.  (Except, I take it back because then she couldn’t be my doctor!)

You may also understand why there was no need for Dr. Francomano to add anxiety to the list of diagnoses.  It comes with the territory.

Two more surprising diagnoses came up.  When the doctor entered the room and I greeted her, she said, “Oh, you have a hoarse voice.  Do you have a cold?”  I confessed that I did not.  At one time, I thought I had a sort of pleasing voice (I thought).  I liked to sing. I just have gotten progressively more hoarse over the years; I used to think it was from my sinus problems, but then it seemed a bigger issue, and I had even bigger concerns to worry about, so I rather let the voice problem slip out of my focus.  I did see an ENT at GWU who my allergist recommended.  He promised to fix me, injecting fat into the vocal cords at my great expense.  When my voice got worse, he about-faced: “Oh, yes, I forgot to say that was one of the possibilities.”  My failing voice was another one of those “soft” signs that whatever was wrong with me (I didn’t know what it was) was getting much worse, systemically.  So I just forgot about it.  Denial is a wonderful thing.

Chiari Malformation - a fault at the base of the brain

Dr. Francomano nodded. “Okay.  We’ll take that up later.”  She asked me if I had ever heard of Chiari Malformation.  Indeed I had:  it had been one of the diseases I studied closely during one of my sorties into the medical journals on late, sleepless nights of pain.  Chiari Malformation causes terrible headaches. I wondered if I had it, but the literature said it was so rare and typically found in infants with spina bifida, so I assumed that #1, I probably didn’t, and #2 I would be considered a hypochondriac for ever asking.  However, Dr. Francomano said, “For a number of reasons, I think you do have Chiari Malformation, with or without cervical instability, which is an extremely rare disease, except among HCTD patients–for you it’s quite common.”  Swell.  You can read about the specifics, but it causes a host of neurological problems, including headaches WITH INTENSE PRESSURE BEHIND THE EYES.  Oh gentle Jesus, can I tell you about those, people.  Also, hoarse voice!, dysautonomia (a disorder that has a number of symptoms of its own, including exercise intolerance–I mean that it makes you completely sick afterwards and often the day or two afterwards–something I have had severely for the last several years), intolerance for heat and cold, sleep disturbances, brain fog, and memory issues.  Well, that pretty much describes my last five to ten years.

The interesting thing is that there is a simple, albeit temporary fix:  wear a cervical collar (of a specific kind).  How easy.  Dr. Francomano has practical solutions for things that I love.  In addition, she says, there’s a neurosurgical fix.  I think I may leave that alone.  But the cervical collar sounds workable. My friend John suggests that I try the big gold ones that African Princesses wear, which sounds even more workable, especially if I could have a silver one and a copper one.

So another one she brings up is Occult Tethered Cord Syndrome. I’ll let you read about it, but this disorder is associated with Chiari Malformation: if the Universe graces you with one, you’re likely to win the lottery on the other, too.  Still, for the record I would like to state I show just the very most basic symptoms of the syndrome, gratefully, and none of the ones that involve the word “incontinence.” The syndrome, however, is progressive, meaning that it gets worse over time. Yuck.  Well, so the test, she offers, to see whether indeed I do have it, involves going to Greenbelt, Maryland, having a urinary catheter inserted, and then having it reached around all up in there (and that isn’t even the treatment).  I don’t know which of those options is worst (possibly having to go to Greenbelt…). I just said no-kay!

Not surprisingly, Dr. Francomano was fine with my refusal.  She explained, “Here’s our philosophy: we offer you six or seven options, each of which has the potential make your life 10% better.  Even if you try four of them and they work, that 40% would make your life substantially better.”  I thought that was pretty profound! So even if I skip that bladder business, I’m still headed in the right direction for some improvement.

There are a couple of things the doctors can treat with meds.  She diagnosed my Mast Cell Activation Disorder, which is a situation I already was about 50% aware of; that’s when you become horribly allergic to everything.  That has been painfully clear to me for some time, since I have hives all the time, allergies, my diet is so limited, etc.  Well, Dr. Francomano actually has a drug that I might be able to try, Gastrocrom (in liquid form), which if it works, might mean I could add back some foods.  Wow.  Like, what if I could march right down to the Cold Stone Creamery and order a Sweet Cream with Reese’s Cups?  NIRVANA.

However, toward the end of the four hours, I was overcome with the sheer number of congenital abnormalities I have.  I had to sit back in my chair and take a deep breath so the panic attack that was rising up and into my chest could evaporate and I would not humiliate myself.  Then, I thought I might cry.  She had just finished listing so many illnesses, malformations, rare diseases—deformations of my body, essentially, that I just sort of didn’t know how or what I did to get a body that is so diseased, so very different from everyone.

In fact, the whole next day, my eyes were the deepest red, as though I were going to start sobbing any moment.  I didn’t want to cry exactly.  I just felt deeply wounded.  God forbid my heart should pound, though, right? Don’t want to stress my aortic root!  Don’t want that BP up…there’s a delicate balance on those aneurysms!  (Just a little gallows humor, folks!)  When, back in that moment, I told Dr. Francomano how I felt (well, sort of in sum)  she took my hand, looked in my gray eyes, and said, “I’m sorry.”  Just very simply and honestly.  It moves me even now.  I’ve never had a doctor be so attentive and so honest.

So get this. On my way out the door, she gave me a ten-page report explaining my diagnosis and treatment plan. It also explains some basic information about hereditary connective tissue diseases, including the connections between some of these diseases and the many related nutty disorders I also seem to have. When has that ever happened to any of you?  You got the doctor’s report on the way out the door?

Well, I needed it because, as you have probably gathered, the sheer breadth and depth of what she told me and my mom was so vast that it would have been impossible for anyone to remember.

I was a little nervous about discussing my medical history in such detail on the internet, under my REAL NAME as I wrote this.  But then I thought about how much I have suffered with nobody believing me about my symptoms, the illnesses I thought I had.  So I just said, the hell with it.  This is information that belongs out there.  I don’t care who knows it.  And besides, I only have 286 days left to live, right?

And…but…so…as for my panic about being a mass of congenital abnormalities?  I have to comfort myself with the thought that I’m the same mess I was yesterday and five years ago.  It’s nothing new, Heidi. She’s just giving a name to all this angst that has been lonely torment for so long.  Now we all can know about it.  So hooray, I…think.  What do you think?