A Brief Update
There are no more good days. Occasionally, Nichelle will have a few hours when she is able to be somewhat active, but it appears that even days like our 1/2-day MFA trip are now impossible. The pain is more severe, and Nichelle’s general debilitation is both more severe and the episodes last longer. Walking any real distance is nearly impossible, although she did complete a less-than-30-minute trip to Wal*Mart last week, this is exceptional. There are unexplained symptoms, like the tiny purpura spreading through her skin, as well as inexplicably normal test results, such as for free T4 (one of the thyroid hormones) and cortisol.
It’s very frustrating. Our most dedicated doctor admits that this is outside his specialty (neurology), and other doctors seem unwilling to exert the effort to find the cause of these problems. If we were to diagnose based merely upon symptoms, my conclusion would be hypothyroidism on top of fibromyalgia. However, the hormone tests run so far for hypothyroidism have been negative. (But hormone problems are often difficult to diagnose, and may defy test-based diagnosis for years.)
Symptoms such as she is now suffering go back all the way to 1992, although they have been increasing in severity enough to be very troublesome for about the last 7 years, the last two years have been much worse. More detail and history are available by clicking on the fibromyalgia category for our BLOG.
Nichelle has copies now of most of her medical records. We are leaving no stone unturned. The common theme expressed by doctors is, “I dunno.”
On the bright side, the illness did make shopping for Nichelle’s birthday presents easy: DVDs from Amazon.
By the way, if you haven’t read this post about Nichelle, you should!
| Symptom | Frequency | Possible Diagnoses |
| Severe edema (fluid shift) with weight fluctuations of 5 lbs. in the course of a day. The swelling varies in intensity, especially around the face, but is always bad. | Continuing. | Cushing’s Syndrome, Hypothyroidism. |
| Significant weight gain (over 65 pounds) in the past year, despite healthy diet and a significant daily exercise regimen (until last fall, when exercising became impossible). | Constant. Weight tends to suddenly shoot up every few weeks. | Cushing’s Syndrome, Hypothyroidism, medication interactions (from the tricyclics used to prevent migraines and sleep problems). |
| Burning sensations, primarily in the hips and back. | Many hours each day. | Fibromyalgia, hypocalcemia, secondary hyperparathyroidism. |
| Pain. Moderate to severe pain nearly always. Episodes of severe, stabbing pain on a daily basis. More than one episode per month of pain as severe or more severe than unmedicated childbirth. | Daily. | Fibromyalgia, migraines, hypocalcemia, myofascial pain syndrome. |
| Difficulty walking or standing. | Constant. Currently able to maintain only a decreasingly short amount of activity at a time. | Unknown. |
| Rapid deterioration of “normal†health over the space of 1/2-hour (normal as defined by the current baseline: still not very good, but able to function with only minor or moderate difficulty). | Daily, when basal health is temporarily good enough to demonstrate a decline. | Hypothyroidism, fibromyalgia. |
| Extreme discomfort in having anything touching the skin on her arms. (Skin sensitivity.). | Weekly. | Unknown. |
| Pins-and-needles sensations all over, especially the head. | Daily. | Fibromyalgia, secondary hyperparathyroidism. |
| Periodic cognitive difficulties. (This is the only symptom that has been less severe than a year ago, we believe because of partly successful treatment of sleep-disturbing migraines.). | Several times a week. | Hypothyroidism, fibromyalgia, hypocalcemia. |
| Sudden or prolonged exhaustion. | Nearly daily. | Hypothyroidism, fibromyalgia. |
| Painful, unusually strong sensitivity to having anything cold come in contact with skin. | Constant. | Fibromyalgia. |
| Feeling very hot or very cold not in conjunction with actual temperature. (Feeling extremely cold often immediately precedes episodes of severe pain.) Night sweats. | Daily. | Hypothyroidism. |
| Occasional inability to grip small items, such as table utensils. | A few times per month. | Unknown. |
| Inability to raise arms or hold an item such as a cell phone against her ear or face. | Constant. | Cushing’s syndrome. |
| Difficulty putting weight on wrists to support. | Constant. | Possible bone problems, hypocalcemia, secondary hyperparathyroidism. |
| Hair breakage/brittle hair. Hair loss on arms, legs, and hands. | Continuing. | Hypothyroidism. |
| Small spots that look like dark freckles that are appearing all over the skin and slowly multiplying. The ones that are a couple of weeks old are now increasing in size. (I had previously labeled these as purpura, but Dr. Hall told us that purpura describes such spots only when they are caused by platelet problems.) | Continuing to increase in number. | Unknown. |
| Severe pain in the bones of her wrists, feet, collarbone, and ribs. | Constant. | Secondary hyperparathyroidism, possible bone problems, hypocalcemia. |
| Stretch marks and skin discoloration over an ever-increasing number of areas. | Continuing to worsen. | Cushing’s Syndrome, may be secondary to the significant edema and weight gain. |
| Dizziness. | Several times a day. | Fibromyalgia. |
| Nausea. | Several hours each day. | Hypothyroidism, fibromyalgia. |
| Low body temperature (1 degree or more below normal) most of the time. | Constant. One or twice a week temperature approaches (but does not reach) normal. | Hypothyroidism. |
| Low calcium level (hypocalcemia). | Current. | Vitamin D deficiency, parathyroid problems. |
| High PTH (Human parathyroid hormone) level. | Current. | Parathyroid problems, could be secondary to vitamin D deficiency. |
The official diagnoses, which have not helped with a treatment or identified the causes (most are merely descriptions of symptoms), for the most part, the following:
- Fibromyalgia
- Myofascial pain syndrome
- Secondary hyperparathyroidism
- Vitamin D deficiency
- Hypocalcemia (probably caused by vitamin D deficiency or parathyroid problems)
- Neurosomatic syndrome
- Periodic limb movement disorder (believed being successfully prevented with medication)
What We’ve [Mostly] Ruled Out:
Fibromyalgia is, itself, generally diagnosed by ruling out everything for which a definitive clinical test exists. Here are the few other things that have been ruled out:
- Lupus (this has been repeatedly tested for about the past 10 years; it has always been negative)
- Heart problems/heart disease
- Diabetes
- Sickle cell anemia
- West Nile virus
- Lyme disease
In addition, Cushing’s Syndrome seems less likely than hypothyroidism, due to the fact that some classic symptoms of Cushing’s are absent.
This analysis is hardly complete; there are certainly other possible explanations of these symptoms. If you have other suggestions, please let us know. Personally, I think it’s just Munchausen Syndrome. (Or maybe it’s Munchausen Syndrome by Proxy, just like in The Sixth Sense.)
At any rate, keep praying.
Sometimes Naomi makes me cry.
Sunday night on our way out of church, I asked her how she had enjoyed bowling. (On Saturday night, the kids and I had gone candlepin bowling with a number of people from our adult Sunday school classes.)
She admiitted that it was fun, and added, “When Mommy all better, she come bowling with us, too?”
I couldn’t hold back the tears. That seems to be happening much more of late, and Nichelle remarked this weekend that I don’t laugh as often as I used to. This was after a much-better-than-usual day, where Nichelle was able to attend church in the morning, and even walk and move enough to guide John in making chicken quesadillas for lunch.
I don’t believe I’m depressed, but I do wonder about the effects on the rest of us of Nichelle’s long-term illness and its increasing severity. Last night I chewed Isaac out (and later apologized) when he complained about some petty perceived injustice, urging him to gripe about something that was really worth declaring unfair.
We have medical records showing these same complaints, albeit in much less severity, going back over 13 years.
Nichelle and I have become obsessed with the medical drama “House.” (I bought the first season on DVD for her this weekend.) It’s perplexing and frustrating that an illness that is life-threatening gets immediate attention in our health system, but one that is life-ruining requires massive effort on the part of the patient to receive treatment or diagnosis, especially if a diagnosis isn’t easily obtained.
I suspect there are a number of factors contributing to this. One is the current push for specialization. The general education received by MDs is pretty general, just ask a Ph.D.! But then they specialize. There is so much information available that we have become a nation of specialists. No one can comprehend, never mind keep up with, ALL the knowledge available. The old model of a general physician who has a personal knowledge of and working relationship with their patients is just gone! They know their field of expertise, period. This even applies to DOs. I had a DO as my Primary Care physician for quite a while, but when I developed problems a few years ago and ended up prone on the couch once again, it was impossible for him to diagnose. He cared…he ran the basic tests…there just didn’t seem to be any answer to why I didn’t have enough energy to get up off the couch. After a year and a half of this I gave him another piece of information that hadn’t occurred to me before – I was having an increasing number of sensory seizures per day. He sent me to my Neurologist, who said, “How old are you now?” The problem was I was menopausal (due to prior surgery, I had no obvious symptoms of it) and the estrogen receptors in my brain weren’t getting enough estrogen to make the Tegretol effective in controlling the seizures.
Now, I should mention, that pretty much from Day One, my daughter, then a grad student, told me EXACTLY what the problem was. But my DO wouldn’t listen and ignored her conclusion. The other problem was my Neurologist, KNOWING that this would occur at a certain stage in my life NEVER warned me about it. I suppose they don’t want self-fulfilling illnesses, but c’mon… I lost a year and a half of my life because of this! I have a great neuro…no one better, yet he’s a busy guy who keeps up with the emergencies, the life threatening stuff. Once we had discovered what the problem was it became a comedy of errors – The neuro didn’t know how to administer estrogen and the DO didn’t know anything about how estrogen interacts with Tegretol! So let’s add another 6-9 months of trying to get back to normal…no hurry on their part…but I’m lying on the couch doing nothing, pretty much useless.
The other problem is our expectations concerning the medical community. It’s not until we have a serious problem like Nichelle or Beth or anyone with an autoimmune disorder (and I’ve unfortunately known a growing number of young women with RA and MS). Up to that point your experience with doctors has probably been pretty good. You get a sinus infection, they give you an antibiotic, you’re better in a week. But the hard to diagnose ailments are different. Tests aren’t as definitive as we had thought they were, doctor’s only know their area of specialization and there’s no one doctor to coordinate and make decisions…then just add a Health Insurance plan in there for good measure…and you see how difficult it really is.
Our insurance will cover just about anything a doctor considers feasible, so that’s not a problem in this case. But specialization and a few insurance restrictions can be limiting. Nichelle goes to have an MRI tomorrow, but it is only for the pituitary. It would be really smart to scan the pituitary and adrenals at the same time, but Endocrinologist I won’t buy it (he’s only treating the Vitamin D deficiency), Endocrinologist II is out of town, and we’re still waiting for an appointment with Endocrinologist III (in Boston).
This is where a team of doctors for consultation would be vital, just like they do on “House.” In the past two years we’ve seen two GPs, one OB/GYN (they’re familiar with hormone processes), one neurologist (our favorite: this guy is wonderful, but he’s at his limits for what he can explore), two rheumatologists, and two endocrinologists (and are waiting to see a third endocrinologist).
The two rheumatologists were unanimous in declaring this to be clearly a hormonal problem. Unfortunately, Endocrinologists I and II don’t seem to want to get to the bottom of things themselves, after running a few tests (but not all the tests they could). At least Endo II was willing to refer Nichelle to a Mass General doctor …
Naomi, at 2.5 years, has a clear expectation of what doctors can do. She’ll ask Nichelle after each visit (even after just having blood drawn), “Mommy, you all better now?”
I pray for the day we’ll be able to answer, “Yes.”
What, no boils? 😉
Have you guys tried treating it as if it were hypothyroidism, and changing your diet? (Such as suggested on, for example, http://www.ghchealth.com/health-conditions/hypothyroidism-way-to-prevent-it.html)
I’m very dubious about dietary treatments (especially prescribed by sites whose sole purpose is selling nutritive supplements) for problems caused by glandular disorders or hormonal imbalances.
However, I have asked our patient advocate to see if there is any current research on the effects of diet on thyroid problems.
I would love to treat the suspected hypothyroidism with the standard hormonal treatments. If the symptoms go away, voila!
I have just read a small part of this and I would stake my life ont his person being on the drug elavil. I had a lot of these symptoms on this drug and they went when I stopped it.
I have CFS and fibro and have had for 13 years plus. Elavil is an evil drug and casues masive weight gain. Beware
Nichelle has been taking nortriptylene (a variant of Elavil) for the past couple of years, although she has currently discontinued it. We know it can cause weight gain, although it ought not to cause the weight gain to the degree we’re seeing.
What other symptoms did you have that were similar?
MRIs and Cleaning Fiesta
Nichelle is having an MRI this morning to check her brain (I said they wouldn’t find anything) and pituitary. Our neurologist decided on this scan.
Nichelle has just heard back from Endocrinologist II, who we hoped would agree to MRI the adrenals and parathyroid (since she’s going to be “in the tube” anyway), but he claims he can’t find sufficient cause to run them.
Maybe the symptoms are sufficient cause?
Nichelle’s day began unusually:
Last night a bunch of ladies from the church came over to clean for a couple of hours. I was amazed at the results, although I commented that it made all the cleaning the boys and I have been doing seem incompetent. Nichelle answered that men and women have very different ideas about what “clean” means. She’s so diplomatic. I hadn’t realized just how much dust and clutter had accumulated since Christmas. Normally Nichelle will use her infrequent good hours to keep things in shape, but it looks like the good hours are getting too far apart.
We’re very grateful for the help.
Nichelle received another packet of old medical records. These show blood a number of blood test results from 2000 and 2002 for things (such as free T4, a thyroid hormone) that were in marked low or critical. (T4 was critical.)
Nichelle was never told about these results, although the doctor at the time did refer her to a couple of specialists for further investigation.
I’ll put up a matrix of the tests, dates, actual results, and expected normal range sometime in the next day or so.
Nichelle is in very bad shape this week. We always think it can’t get any worse …
Nichelle’s MRI, which was meant to diagnose problems in the pituitary (the only remaining neurological thing our most excellent neurologist was comfortable ordering himself), was normal.
We did try to get the thyroid, parathyroid, and adrenals examined at the same time, but none of the doctors would okay it.
Endocrinologist #3 has spoken with our neurologist (who, of all the doctors, has most carefully followed the case), and Nichelle is on the cancelation list. Otherwise, she waits until June 2 to get into Boston.