Two months into pregnancy in 1985 I developed swollen ankles and fingers, numb toes, and little red "pimples" that turned out much later were not pimples at all.
Much of the swelling went down in my ankles, and sensation gradually returned to my toes in the year following the pregnancy. But my feet were never the same. The swelling in my fingers was permanent, and so we had to buy a second wedding ring. Ever after that my feet were achy and burny, and my ankles would swell if I stood for too long, or even worse, I would get extremely painful lower legs with red, itchy spots on them that I now realize were bouts of phlebitis. Things went on like that, pretty stable until 1979.
In 1979 the tendonitis began. My antinuclear antibodies (ANA) were sky high: 2560 where over 40 is abnormal. The doc kept doing the same antibody tests over and over again. Of these, only once was the ds-DNA test mildly positive. During this period the ANA pattern was either speckled or homogeneous. But, just once the ANA pattern was nucleoloar (indicates scleroderma), and the doc ignored that.
In 2002 the autoimmune symptoms came crashing down hard, with an extremely painful right "frozen shoulder," horrible body pain all over. My arms would fall asleep up to 5 or 6 times a night, waking me. Night sweats. The fingers swelled again: a 3rd wedding ring. The chronic pain was/is unrelenting, leading to depression. My right hand developed those same aching burning sensations that had been in my feet, and then it gradually spread to both hands and both forearms. I could feel it creeping up into the legs. I would get sharp stabbing pains in my feet and lower legs like someone was repeatedly jabbing me with a long needle. At times I could elicit burning sensations in the skin by simply blowing on the hairs. An MRI showed the right spinnatus muscle in the shoulder was possibly degenerating. A nuclear scan revealed the inflammation in my right shoulder. A later one showed that both shoulders and both feet were degenerating. A cervical scan showed a limited of range in motion in my neck was due to spontaneously fused vertebrae. He discovered I had IgG kappa monoclonal gammopathy (MGUS), which has been monitored since. X-rays showed I had suddenly developed calcified heel and elbow tendons. A neurologist had found I had abnornally brisk (3+ reflexes), and bilateral Hoffman's sign, and mild abnormalities in my EMG/NCV. He said I had an ulnar nerve problem from resting my forearms on my chair arms. Trouble is, not of my chairs had any arms! He didn't ask me about my feet.
Finally the ANA came through very highly anticentromere pattern, but that, too, the doc ignored. And right after that he left for a position in another state, without telling me about it. He turned me over to another doctor in that office.
When I went to her she was very dismissive. To this day I don't know why. She simply said, "I will not treat you." No reason given, no appointment given for followup, and no referral to another doctor. I felt abandoned. I went from doctor to doctor trying to find out why all this was happening to me. Several of them treated me like a hypochondriac.
I started noticing that I sometimes get a sharp pain in my esophagus if I take a too-large gulp of water. Dry food and pills linger in the lower esophagus. I get gastric reflux when bending over to weed the garden, or sometimes when lying down. I started noticing constipation, with sometimes short episodes of diarrhea. Sometimes the constipation was so bad my anus would break open and bleed. A couple of times I was so impacted I was desperate, and had to use my index finger to loosen things up.
My shins and lower legs had become ultra-tender to the touch so that even the seams of my jeans would hurt them. A new internist pinched both of my lower legs simultaneously and then both of my upper arms simultaneously, and pronouced that I had fibromyalgia. I had been told by my rheumatologist, who knew the correct way to test it, that I did NOT have it. The internist kept talking about me seeming anxious. Well, I guess he'd be also if he could have felt the way I'd been feeling, and then having to deal with idiots like him!
I admitted to my new rheumatologist that I was staying abed until 3 PM sometimes, trying unsuccessfully to get some sleep. He suggested a sleep study, and I scheduled one. I would have to wait for 2 months for it. Meanwhile, I went to a new doctor about the MGUS, and he ordered a total body PET CT scan to investigate a bone lesion. This scan revealed intense inflammation in my spine, liver and thyroid. He then ordered an MRI, which revealed 4 herniated discs in my spine in addition to the one I already had in my lumbar region. It also revealed cysts and angiomas in the liver.
I also discovered that what looked like little red angiomas or telangiectasions had suddenly popped up all over my trunk and arms, and I noticed that almost all of the hair had disappeared from my arms and legs.
Because of the liver inflammation I was referred to a gastroenterologist-hepatologist. He said I possibly had amyloidosis occuring in my liver because of the MGUS paraproteins and that my liver just may some day burst.
Because of the thyroid inflammation, I was referred to an endocrinologist. He ordered his blood tests, and a couple days later called me. "You are hypothyroid, and I'm starting you on levothyroxin." The subsequent sonogram came through consistent with Hashimoto's thyroiditis.
Meanwhile, 2 days before my sleep study, I was so sleep deprived I fell asleep at the wheel of my car and went through a red light, scraping another car.
The sleep study showed I had severe sleep apnea. I was waking or arousing every 2 to 3 minutes to breathe. They titrated me for a CPAP machine.
On followup with my endocrinologist, I said, "I've read that hypothyroidism can cause sleep apnea." To this he replied, "Correction...UNTREATED hypothyroidism can cause sleep apnea!" He sounded really steamed at my prior doctors.
So I went to my lab and asked for copies of my old labs. Turns out that all my TSH values had been above 3.0 from at least 2003 onward. In 2001 or 2002 the American Association of Clinical Endocrinology had issued a proclaimation that the upper range of TSH normality should be adjusted downward to 3.0. My doctors all had ignored this despite my taking a long list of hypothyroid symptoms to one of them who was himself an endocrinologist. I had gone untreated from 2003 to fall of 2007!
A couple of months later, I was still sleep deprived and not adjusting well at first to the CPAP mask, and again fell asleep at the wheel of my car. This time I plowed headlong into the rear of a parked car, totalling my car and ending up at the hospital.
I had nerve biopsies does at Hopkins which showed progressive nerve dropout in my legs. He wanted me to come back in another year for a third biopsy. I said, "If I do, and it shows still more nerve drop out, will you do any testing to find out why?" He said, "No." I said "Goodbye."
I was referred to a new endocrinologist about my osteoporosis. She was interested in my neuropathic problems, and referred by to a new neurologist who she was sure would be more receptive to finding out the "Whys" of what was ailing me.
In the second visit the doc witnessed me have a full-blown attack of Raynauds.
The third visit, the doctor, himself conducted the entire exam. I reminded him of the Raynaud's attack and that I had discovered that one of my old labs had shown an anticentromere ANA staining pattern. I asked him if he would order the anticentromere B test. He did.
To conclude the story, this test was highly positive: about 230, where over 99 is considered positive. Everything I've read says this test is extremely specific to CREST scleroderma, with some accounts saying over 98% specific. With the positive anticentromere B test, only 2 of the 5 CREST acronym items are required for diagnosis. I have at least 4 of the 5. If calcified tendons, or little calcium deposits adjacent to the spine consitutes "subcutaneous calcinosis" than I have 5 out of 5.
Here is what the CREST scleroderma acronym stands for:
C = calcinosis: calcium deposits under the skin or in deeper tissues
R = Raynaud's (color changes in the feet or hands due to cold or emotion)
E = Esophageal dysfunction
S = Sclerodactyly (or at least finger swelling)
T = Telangiectasias
It's a lot more than that though, there is an underlying vasculitis which accounts for the phlebitis, and probably the liver, thyroid and spinal inflammation as well as the neuropathy. The entire gut is hardening, not just the esophagus. This accounts for the constipation. Eventually the skin of my fingers may thin, harden and distort the fingers, curling them in toward the palms.
In retrospect I've realized that my dad had this, and his mom before him, and likely her mother before her. Dad had virtually all of this happen to him. We just never found out why. I recall hat his mother, too, complained of the painful feet, and just before her death I saw she had these strange radial furrows around her mouth. It was the "purse-string" mouth of scleroderma. I saw it in among pictures of scleroderma last week, and was shocked that I had seen it before - in my grandmother. And her mother died of liver damage, even though she was a teetotaler. No one ever knew why, but I think I know why now!
So for any of you reading this, who see yourself in this description. Please, please, go to a rheumatologist and get the ANA test. Then if it is positive, insist on both the SCL-70 and anticentromere B tests, REGARDLESS of the staining pattern! Perhaps YOU won't have to go 24 years undiagnosed like I did!
Good Luck, and I hope you don't have it. As for me, I now have an appointment at a major university's Scleroderma Center, where perhaps they can offer ways of slowing down the damage, even though this is incurable.