A Reply to Sarah, re: Endocrine-based Illness

First, Sarah, I hope you’ll forgive me for making my reply to you into another entry; it’s just that your comment to my previous post asks a number of pertinent questions I’m more than happy to answer. I’m sorry that you also have to be a member of this club, but just know we have company.

Secondly, I’ve most definitely had my share of GI trouble—secretions, pain, a terrible mess, and for a long time I was led to believe I was experiencing a host of seemingly separate troubles. No doctor ever suspected anything like MEN 2B in my case. And yes, they dismissed what I said as well. My current endocrinologist also said it was rare to see anyone live this long (I’m now 53) with a disease that normally kills during childhood. We’re left to ponder some very large questions, but in the meantime:

I have many of the same symptoms—cafe au lait marks, fatigue (which on some days is absolutely disabling), and of course there are all these tumors. The thyroid is the biggest issue because it can turn malignant; I’m having mine removed for that reason, prevention, also I have a tumor in the neck that causes me choking/breathing problems. If you have MEN 2B (the blood test will confirm it), it’s also possible your rib cage and spine are barnacled with tumors. A nasty thought, I know; but these tend toward benignity. An MRI will of course reveal this. I suspect that’s the case for both of us, unfortunately; that would explain much of the pain you’re feeling.

I only found out about MEN 2B by accident. I called my former doctor at Cleveland Clinic, where they’re doing some cutting-edge (sic) research on this illness; Dr. Burke said, “I thought you were calling me to say you’re having thyroid problems.”

“What about the thyroid?” I was clueless.

Then she began to explain it to me. All the ganglioneuromas in my colon were symptoms of this larger illness. There was nothing to do at that point besides go and get checked out. Turns out she was right, and she quite likely saved my life by telling me that.

So: do please have the thyroid checked as well, OK? The reason is: quite likely the other tumors, while serious, are less likely to turn malignant; the thyroid is another matter. Of course, once said malignancy gets into the lymph nodes it proceeds to the bones and marrow, and nothing can be done about that. Now, your thyroid might be clear. I certainly hope so. But it’s important for me to pass that along to you, just to be certain.

I fully understand how this can disable. Many days I have the same problems, be sure. It can be frustrating because, unlike many other illnesses, this doesn’t make itself obvious to others. In fact, often I feel it’s a fairly invisible disease. It’s only when the cramps start, etc., that people see any manifestation, and then it must appear to them as something else altogether.

Finally, I wish you good health, and success every day in dealing with this. All any of us can do is wake up in the morning and try. If other people don’t quite understand, it’s their problem. Please keep me posted as to your progress, all right? All Bright Blessings, and if you have any other questions I hope you continue to ask here; I’m not a doctor, only a patient, but I can surely answer questions from that perspective.



About johnwylam1957

I'm a poet and teacher now living in Toronto, Ontario, Canada.
This entry was posted in Notes on Living and Dealing with Illness. Bookmark the permalink.

10 Responses to A Reply to Sarah, re: Endocrine-based Illness

  1. pelztier86 says:

    Thank you so much for sharing and your willingness to answer my questions. Yes, I do have other questions. A thyroid ultrasound has been clear so far, but I seem to have some sort of hypothyroidism which has become worse in the last year when the other endocrine issues, in particular the cortisol excess, started. The hypothyroidism is not caused by inflammation/autoimmune disease of the thyroid which most people with Hypothyroidism have.

    For how long have you had the cafe au lait spots? Did they occur in childhood?
    What was your earliest problem/sign possibly related to the underlying disease?
    And did you have endocrine problems/hormonal excesses before you got the diagnosis? Are your tumors hormonally active?

    Are you 35 or 53 years old? I thought I read in one of your previous posts that you are 35. I think there is a pre-form of medullary thyroid carcinoma called c-cell hyperplasia and that this preform cannot be seen/exclude by ultrasound/MRi/CT etc but only per biopsy. Do you know anything about this?
    I think the presentation and clinical course can be very variable in these syndromes and that this is what most docs are not aware of. They only look for and diagnose textbook cases.

    Do you think your thyroid tumor came first? From what I remember, a tumor on the hypophysis is quite rare in Men2b, and more common in MEN1.

    What exactly were the troubles which were considered unrelated for a long time?

    Did you ever have an intestinal biopsy confirming altered enteric nervous system/intestinal ganglioneuromatosis which is linked to intestinal dysmotility?

    Thanks so much!

    • johnwylam1957 says:

      Hi — and Many Thanks. Straight to answers: The cafe au lait marks started in childhood, yes. The ganglioneuromas were the first manifest sign; there’s one on my face that was considered a mole for most of my life until now. Excesses: Oh, yes! It’s amazing anyone could live with me some days. I believe the tumors are indeed active. I’m 53; 35 would be a typo I’ll have to check on, and thank you for pointing it out. I’m a stickler for such things. I’m aware of c-cell hyperplasia but have yet to do the MRI. Your point about the presentation has to be what fools doctors. Why would they think to consider MEN? I agree. Did the thyroid tumor come first? It might have but I’m not sure. The neck tumor’s pretty old, tho, I’m sure of that. “Unrelated” troubles: muscle cramps that feel like someone’s trying to pull the muscles out through my skin, weakness, all this crazy dermatology, headaches, changes in heart rate/huge BP spikes. I do have ganglioneuromatosis with dysmotility as well. Again, many thanks for writing back; it’s important for patients to talk about their illnesses, and I’m grateful to know someone else is also fighting back. All Good Wishes!

  2. pelztier86 says:

    Oh, and did you get your calcitonin levels checked?

  3. pelztier86 says:

    How many cafe au lait spots do you have and how big are they?

    • johnwylam1957 says:

      Calcitonin came back OK, thankfully! I’ve got about 10 cafe au lait marks altogether, on both legs, one arm, and the back. They range from about dime-sized to nickel-sized and while they occasionally burst, something I find horrible, they don’t change in color or size.

  4. pelztier86 says:

    Thank you very much.
    Did you ever have a thorough testing of your hormone levels so that you you have an idea which hormones could be responsible for the excesses?

    I am not aware of mucosal neuromas in my mouth; however, I read that these changes are very subtle and can be overlooked when not examined by an experienced guy. I do have some whitish, almost unenhanced little nodules on the mucosa under my front teeth. Don’t know if these nodules mean anything…

  5. pelztier86 says:

    sorry, I meant:…” I read that these changes CAN BE very subtle and can be overlooked ….”

    • johnwylam1957 says:

      Hmmm….not specifically, not yet. I’d go through more of the testing but at this point the neck tumor at least has to come out, and if you’re going to do that, then, well, might as well go the rest of the way. I presume that at some point that’ll also come under scrutiny, though. As to the mouth neuromas it wouldn’t be surprising. I have some similar examples. Again, All Good Wishes with everything you’re enduring. It’s difficult, frightening, and all the stranger because so much of it can be hidden from view and therefore invisible to others. All Bright Blessings—there’ll be more in this blog on the subject, to be sure. Thank You.

  6. pelztier86 says:

    I am not sure about my whitish “mucosal spots”. Could you put a photo of your neuromas in your mouth on this site?
    I do know that there has always been strange little white-reddish nodules in my gut mucosa. someone suggested intestinal lymphangiectasia, and when I read the descriptions of the mucosal appearance of this condition it does sound as if it could be confused with intestinal ganglioneuromatosis.
    Do you know anything about this?

Leave a Reply

Please log in using one of these methods to post your comment:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out /  Change )

Google+ photo

You are commenting using your Google+ account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )


Connecting to %s