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?

18 thoughts on “Day 286. You Can’t Study For a Genetic Test

  1. Wow, that woman is a true genius! I’m not often impressed with health care professionals but this is a real exception.

    I was thinking… for for someone with so many health issues, you sure turned out great! It sounds so very hopeless itemized out on paper like this, but I read it and felt sort of overwhelmed by what a great job you’ve done managing it all and dealing with all the difficulties that you’ve been presented with. You’re really just as amazing as Dr. Francomano.

    Oh and “Go Gastrocrom!” I’ll treat at Cold-Stone Creamery!

    I Love You, Heidi!

  2. By now, with all the acronym-istic issues you have to deal, you’ve accumulated enough letters to get the whole alphabet. That might prove a futile yet amusing little exercise. How many more letters do I need to get my alphabet? (you have lots of S’s but no X’s I can see).

    I agree with your withdrawal of Dr. Francomano for president. Keep her as your physician.

    And you still have an impossibly talented disposition towards didactic presentation of complicated issues. In my book, you rule.

  3. I completely agree with Carlos and Greg, mastering, and I mean mastering all of this is way above and beyond the normal human. you do in fact RULE, YA RULE!!!

  4. Heidi,

    I’ve been reading your blog since Stephanie sent the link to us in Liberal Arts and hoping that I would think of something meaningful and supportive to say to you. In fact, only two things have occurred and keep re-occurring to me. 1. My god, you are strong. 2. My god, you’re a good writer. I’m very sorry that this is the way I’m learning that about you.

    Your doctor sounds like a gem. I hope she gives you that 40% improvement, if not more.

    Please let me know if there’s anything I can do for you. We sure miss you at NOVA.

    Jennie Ward

    • Jennie,

      Thanks so much! I am so touched. Really, that means a lot. As for being strong, though…I am no strong than anyone else…no stronger than you are (dealing with all those essays and students). I just get up and do what’s next every day. What else would I do? What a great reward this is to have such high praise. Thanks again–it’s good to hear from you! I miss you too!


  5. I’m reserving the right to think of you as strong. But I don’t mean it in that simpering way that people sometimes have, of saying, “Oh, you’re such an inspiration” or “I could never do what you do” and similar garbage. (My apologies if you’ve heard such niceties from well meaning people you respect or care about–they don’t know what to say, I’m sure.) You’re right that getting up is really the only thing to do. But you’re doing more than that–you’re facing terrible luck with grace and honesty and humor. To me, that’s being strong.

    • Well Put, Jennie!
      Heidi, you’ve handled it better than a lot of other people I know and I dare say a hell of a lot better than I would have if the tables were turned. I think you don’t give yourself enough credit for “keeping it together” in the face of such a list of diagnoses and difficulties as you have. Don’t ever give up on all the inner strength that has kept you going so far and so well. I can only imagine you’ve felt like saying fuck-it on numerous occasions but you’re pulling it out every day and that speaks volumes.

      I Love You, Little Sister.

      • Well, thanks, big brudder, but you have heard me on many of those occasions when I am not keeping it together. Still in all, unless you count the fact that my nails are bit to the quick, I’m hangin’ in! So are you. We’re all facing our struggles. That’s all I’m saying!

        There’s a lot of good in the world to live for. All your postings positively knock me out with it.

        ILY x 10 x 10 x 10 x 10

    • Well, shitfire, then. It’s hard to argue against that. I accept it then. (I will look tomorrow to see if I have a sweatshirt to paint a big S on) 🙂

      Lots of love, (feeling really great, so thanks much)

    • Thanks so much, AfternoonNapper! I hope to learn something about that soon. I appreciate your kindness. Also, had a few moments to poke around your blog: it’s really wonderful–you make FMD really look great, at least compared with VEDS. That’s what good writing, style, and content can do. Keep it up!


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