Yesterday we finally got to see an endocrinologist. The doctor listened well, and was thorough and knowledgeable. We are grateful to be working with him. (One gripe: No records of any kind had arrived for him, other than a referral letter from our neurologist, although that was of minimal import.)
Frankly, Nichelle’s symptoms puzzled him a bit.
He couldn’t explain the tiny spots appearing on her skin, noting only that they “looked like freckles.” (Yes, they do look like freckles, but freckles don’t generally multiply overnight.)
He did say that Cushing’s was a possibility, but that Nichelle doesn’t exhibit “striking” Cushing’s symptoms, nor would Cushing’s explain all her symptoms. (For example, Nichelle doesn’t bruise easily or have skin that damages easily, which are often found in Cushing’s, and Cushing’s—at least according to him—does not explain all of the pain she is having.) He explained that only fluid shifting could account for the rapid fluxuations in weight, but that normally Cushing’s does not cause such rapid change. (On the other hand, the large fluid retention, swollen face, and inability to keep arms raised he agreed were typical symptoms of Cushing’s Syndrome.)
Note that what may be considered the established symptoms of Cushing’s Syndrome tend to vary somewhat, so what may be considered a definite symptom by one doctor may be disregarded by another. Compare, for example, this entry on Cushing’s Syndome from the Massachusetts General Hospital and Harvard Medical School, and this one, by Gail Adler, MD, PhD, of Brigham and Women’s Hospital and Harvard Medical School. Still another site lists slightly different symptoms, but points out:
Symptoms of Cushing’s syndrome are extensive and can vary from patient to patient.
He ordered a number of blood tests, including rerunning thyroid function tests. The most important, however, will probably be two 24-hour urine collections to test for hypercortisolism. He explained that (as we knew from our own research) the single-point-in-time cortisol test Nichelle had last week was of no value. We also learned that there are cortisol levels below which one is considered normal, and above which clearly show hypercortisolism, but there is a significant “gray area” where a diagnosis may be unclear.
He also said that he didn’t see any symptoms of any other renal or adrenal disfunction.
Nichelle observed that he seemed a bit annoyed (or at least perplexed) that the rheumatologist had told Nichelle she “definitely had a serious endocrine problem.” This may merely have been professional area-of-expertise jealousy, or due to the fact that the rheumatologist did not provide any thoughts on the issue. (I didn’t even notice any discomfort, but Nichelle is much more perceptive than I about such things.)
The samples need to be delivered to Concord, N.H., on Thursday and Friday morning, with blood work being done at those times. We asked if the labs could be done by one of the Dartmouth-Hitchcock labs nearby, but it would have meant waiting another full week after getting a new lab schedule to be approved by Dr. Golding (who is away for a few days)—our fault; we didn’t think of asking until we were partway home. Nichelle is going to try to make the trips herself, if she feels better than today; I’ll act as a backup.
So, with the cortisol tests outstanding, Beth’s Moxie is in a quantum state. Call it Schrödinger’s Soda! (A little non-bio-science Geek humor, there.)
Today Nichelle awoke with another 5.5 pounds of weight increase from yesterday, bringing her current weight to a new record (which I doubt she would want me to publish). We laughed the other day about how I had to keep forcing myself to eat and eat to maintain the sympathetic weight gain.
Other exciting symptoms as of this evening (6:00 p.m.) include, according to Nichelle: “feeling really bad: loads of pain, weak feeling, and the head pain—has been hitting in different sections of my head.”
I will continue to hold you up in prayer!
I, too, am at a new record regarding my weight. My husband, however, calls it “right hand syndrome”!
The Waiting Game
Day 1 of the free urine cortisol test is done. One more day to go. Then it will be 10 to 14 days for the tests to be run and results processed.
Nichelle is feeling somewhat better today, after a week large in bad symptoms, so she’s driving to Concord herself. Yesterday I had to take her, as there was no way she could have made the trip with as much pain as she was in, and all the other symptoms. She slept most of the way, but kept startling awake as the pains hit. She was also exhausted and nauseated.
NaNi kept asking after Nichelle came out from the medical center’s lab rooms, “Mommy, you all better now?”
On the way back, we got an EZPass, as we don’t normally carry cash, finding money for the tolls can be challenging, and going to the bank before heading anywhere north of us is a bit less than convenient. Nichelle gets to try it out today.
Symptoms throughout the day included nausea, stabbing pain, aching, “pins and needles” in many different spots, and one or two fingers twitching uncontrollably on one hand (a new one).
It’s been a long, hard week for Nichelle. Most days brought severe pain, difficulty moving, nausea, and significant swelling. Yesterday we discussed the need to go shopping for new clothing, as almost nothing fits anymore.
She’s spent quite a bit of time online, reading case studies and health-related testimonials from Cushing’s sufferers. Most of them sound very much like her case: Significant symptoms (similar to hers) that increase over time, and visits to multiple doctors without a diagnosis or effective treatment.
One case she found last night, though, was different. It detailed the story of a woman who was sent to Mayo clinic for evaluation and tests, but who was ultimately told that she did have hypercortisolism, but that it was caused by the constant pain/stress of fibromyalgia. She was encouraged to have the 24-hour urine collection done on days when she was pain-free. “What pain-free days?” was her response. The article doesn’t disclose if CT scans or MRIs were done of the pituitary and adrenals to see if tumors were present, so it’s not really complete, but it was a bit discouraging. It got me thinking about hypercortisolism not being caused by tumors, which would have little or no effective treatment, especially as we know that every attempt at pain mitigation in Nichelle has been completely unsuccessful. I do hope the final determination for Nichelle is hypercortisolism (which we still don’t know) with a specific, treatable cause.
Well I’m glad he’s doing the 24 hr cortisol test. I’m surprised he didn’t think much of the purpura- yet another classic Cushing’s sign (and can be an indication of other things). I guess you have to get what can from him, let the process of doing tests, getting tests results etc. go on. You’re right about how difficult it can be for Cushing’s to be diagnosed- people can have severe obvious problems (things that are objectively measured) before the Dr.s figure it out. Did he have any conjectures on what is causing the water retention problems if it isn’t cushing’s and isn’t renal?
Oh ya! and I will be so disappointed if an Endocrinologist does not save the day!
I can tell you that most MD’s do not like the patient coming in telling them what their or the other Dr.’s opinion was. I could personally see how that would be annoying, but they have to understand that if patients don’t do some homework on their own and if what they have doesn’t pop up on the first X-ray, MRI or blood test, they will be medical purgitory for years. The only MD who didn’t seem to mind that I came in and told her I thought I had MS was the one of the top 10 MS specialists in the country/world, and she just simply said “yup, you probably do- it may take a while to officially diagnose, but you probably do.”
I got the impression that he did think the edema was Cushing’s related, just that rapid “fluid shifting” wasn’t typical of Cushing’s, as were some of the other symptoms. This was related to our discussion of the December 25/December 27 photos, which show a rapid change in the edema. I pointed out that the December 27 photo is far more typical than the December 25 one.
Examination of the purpura do not clearly reveal a cause; we found one or two that seem to be caused by subcutenaous bleeding—because there were one or two blood-red spots of the same size—but it’s very difficult to determine that by examination.
He wasn’t obviously annoyed, either. It was just something under the surface Nichelle picked up on. It may not have been that he doubted the conclusion of the rheumatologist, but was frustrated by having such a statement made without providing any of the reasoning used to reach it.
I left out another symptom that’s developed: Hair loss.
Nichelle had me run my hand over my hair from my forehead to the back, and asked, “How many pieces of hair come off in your hand?” My answer of, “Zero,” is far different than what is happening to her. Female pattern baldness is also on our list of Cushing’s symptoms.
Ah!!! Could she have anymore Cushing’s symptoms? Let’s pray the 24 hr cortisol test comes out obvious. There are other tests to run if it isn’t- I’ll have to look at that.
I had a huge discussion with the other postdoc in the lab- he is an MD- was a neurosurgeon. It drives him crazy that people/me are so open with their symptoms, and how I like to talk about it and explain things to people. Then we decided that it is because I am not an MD- so coming up with potential diseases is fun. Whereas he is an MD- and you don’t go around making quick conclusions. Now, if a person asks me a reproductive physiology question… I’m not so quick to come up with a definitive answer- I purposefully hedge- I’ll explain how things work, but I’m not so quick to “diagnose”.
I keep forgetting the few typical Cushing’s symptoms that Nichelle doesn’t have, although symptoms vary much from person to person. (This is why our endocrinologist was able to say the Cushing’s wasn’t striking.)
As far as we can see, she doesn’t have any striae, although they wouldn’t show up easily on her dark skin. She also doesn’t have high blood pressure or easy bruising.
Yesterday she made some careful observations, and discovered that virtually all her hair on her arms, legs, and hands has disappeared. She found it quite disturbing.
She also noticed Cushing’s-like symptoms in me: Relatively easy bruising, weight gain (despite a careful, lowfat, low-calorie diet for the past six months), striae (on my stomach and arms), hair loss in a few areas, and skin tags.
Don’t worry, Doug, that’s just getting old.
But I have 35 more years before I’ll even consider being considered old.
I suspect my symptoms are due to weight gain. I’m puzzled as to why a low-fat, low-calorie diet didn’t help much, but I’m going to try low-carb (South Beach) again, which worked very well for me a couple of years ago. (I still weigh quite a bit less than I did before.)
Nichelle and I did read an article (which I can’t find currently), that suggested that hypercortisolism, in a less extreme form than we think of as Cushing’s Syndome, may be significantly underdiagnosed and a cause of many adults’ obesity problems, especially those who don’t respond well to reasoanble diet and moderate exercise.
Hypercortisolism can occur in fibromyalgia and in depression.