Dwellers’ Stories

My friend’s medical journey through her invisible disabilities reflects the experiences of too many people with hard-to-diagnose conditions. Note: people’s problems differ, so their medical journeys may be easier or even more difficult.

I’ll call my friend Kristy. She majored in Nutrition and planned on pursuing a Master’s in Wellness or Sports Nutrition. Four years previous to our meeting, she ran a women’s gym. So, she was an active, healthy woman in her forties. By the time of our meeting, she was overweight and disabled. Even kneeling to garden caused injuries taking months to heal. This is her true story, albeit long. You can feel her emotions and frustration throughout.

First symptoms, many doctors

I visited doctor after doctor to find the answer to my deep, crushing fatigue. The docs did blood work but could find nothing except anemia. Because of my background, I knew how to feed my body and I did as well as I could except taking breaks for nausea. The last regular primary care doc told me I needed to exercise for an hour a day even though just 5 minutes killed me. I was a true lover of exercise and fitness and loved the rush when I was in my zone but I could not get there. I was too tired.

I next turned to naturopathy, working with a digestive specialist who might have been helpful, but the man gave me the creeps. I could not go back or let him touch my body. I saw a regular gastrointestinal doc who did the scoping of the entire digestive tract. He found nothing of significance to my fatigue and perpetual anemia.

No answers

I really felt like they just were not hearing me. They put me off as a hypochondriac and there was nothing I could find to help me in allopathic [M.D.] medicine. We had a health fair at our gym when doctors came giving some free evaluations. One was a heart specialist who did an ultrasound for me and found thick arteries with zero plaque. He did not know what it meant.

A Chinese practitioner checked my pulse and panicked. She told me I was about to be very, very sick, but she did not know why. I think she told me I had sluggish blood and needed her services. She was so aggressive with acupuncture that I always left bleeding. I quit because she was just too aggressive and would not let up. But she did not know the reason for the problem either.

Naturopath #2, a keeper

I found another naturopath near home and this time decided to take a different approach. By this time, I had crushing back pain and was starting to have constant migraines and sinus and ear infections. I decided to have a good long talk with this young naturopath and told her that I needed some serious help but that she really needed to hear me. She promised to do her best and never give up. To this day, she is my primary care, and she has led me through all kinds of annoying illnesses to a point of never being visited by an ear or sinus infection again. We stay in regular contact, even as my case has grown in mystery and difficulty. She has never given up on me.

Rheumatologist #1

Eventually, through a contact at the gym, I got in to see a rheumatologist. I had never heard of them, but this woman was a nurse who got me in to him within a few days. He gave me my first scary diagnosis because of dry skin in my ear and back pain. He said, very arrogantly, ”People are so stupid. Anyone knows this is psoriasis. You have psoriatic arthritis.” Sixteen vials of blood later, he confirmed the diagnosis was nothing but anemia and some mild inflammation. I still had my growing list of symptoms. Since he was a Stanford scholar, I figured he must be right. So, I was willing to try his way. We started some very strong meds, and via trial and error, I was starting to feel better in some ways. Side effects made my life a living nightmare. I was so sick. I did not know whether it was the drugs or the disease. I got sick in ways the literature said I would, so I could only guess that the diagnosis was correct. My pain lessened. Various places of arthritis got a little better, but somehow I was sicker.

It was a mystery to me. For every new symptom I mentioned, I got sent to another specialist. I was sent to the sleep center because of the fatigue. Lots of tests, nice guys, and therapies I did not want. During tests in the sleep center they found that I needed neurology so they sent me there as well. By now I was wanting to cry all the time, so I suggested he should have a sense of humor if we were going to get through this. He did comply. Neurology sent me to another neurologist sub-specialist for evaluation which gave me another diagnosis. He sent me back to my first neurologist for treatment. We have a good working relationship. He taught me how to take all these different meds very, very carefully, and he got rid of my migraines. He found a few other things but he had me go home to read about them, and he refrained from any serious diagnosis. He told me that I just need to lighten up and go live. Go live well. Hmmm. I took that to be a clue that things were going to eventually get serious but were not there yet, so he could not say it. Eventually my doctor-brother, suggested that I move on to a different rheumatologist as mine was very arrogant and not really helping me all that much. So, I moved on.

Rheumatologist #2: Dr. Jekyll and Mr. Hyde

I was reading a book by a local rheumatologist and thought he sounded like a genius as well as a very pleasant person, so I made an appointment with him. We went over things very carefully and he decided on a different approach, since he was not convinced of my diagnosis. He told me that things did not look good and he would do his best but he did not know if he could help me. I was too afraid to ask him if it meant I was going to die. He was quite dramatic; he hated his job, was tired, and ready to retire. He was nice one time then nasty the next. He became a cyclic Jekyll and Hyde. I hated going to him but my intuition told me that he knew what was wrong but was not going to tell me. So I persisted. What he really taught me was how to cope better with the unknown and that doctors get tired and cranky and need to retire just like anyone else. He also tried me on old time rheum drugs that were more well-rounded to all the rheum diseases. But again, I watched, listened and played his game because he knew something. He could not seem to fix me, but he knew something and I knew it. When he finally retired, I breathed a sigh of relief. I went to the clinic psychotherapist to ask him if there was a doc in the whole city that might treat me with respect and not get mad at me or shame me. He sent me to the next guy who is a gem, a perfect fit for my personality! I had gotten to know other staff members through their various services, checked out others’ opinions, let them get to know me, and let them tell me who would be good for me. Turns out they were right.

Other medicos

By now we had all learned that it was best to keep me off as many meds as possible. I had been to an allergist for a mild mast cell condition. He said I did not have it but he wanted pulmonary testing instead. We established a base line if we needed it in the future. Nice guy. I went to the eye doctor because my eyes were getting worse. He found other things that sent me back to neurology.

By the way, I had been to 5 different psychiatrists as well, looking for the right fit . Others had retired.

During my dentist visits I had a tooth that rotted so fast they never had time to catch it in between cleanings. Another tooth had a swollen ligament that persisted for years. Now that was a weird diagnosis. So I researched it. It said that it usually is seen with scleroderma. Great. I read up on scleroderma and they constantly used the word complicated. That sounded familiar.

Then on to hearing because of hearing problems. Geeezz, I was only in my early 50s. The docs kept telling me I was too young for this type of problem, but the problems were there and diagnosed. As Jekyll and Hyde kept saying, this was complicated.

Then a round of dermatologists. I made no commitments to them unless I found one that could actually tell me what my skin was saying. The first 3 or 4 all said differing things. They did a biopsy and told me I had a very rare skin condition that needed serious treatment. My primary care told me to get a second opinion as a standard protocol. I stepped up the pace.

University Clinic

Eventually the gem of a rheumatologist sent me to his mentors at the University in a specialty clinic. This was the big league now and my learning curve and persistence as well as my courage needed to reach new levels. I was sent to the scleroderma center to rule it out.

The scleroderma center said I did not have it, nor would I ever have it. But they did not receive the biopsy and were not willing to repeat it. They decided I had insulin resistance, a skin disease that could be malignant or be related to insulin resistance, and another disease called panniculitis because fat layers were disappearing in individual places on my body, and scleroderma on my back via an ultrasound of my skin. From a very brilliant scholar. I told them I had Raynaud’s that I developed around 50 years of age. They denied that I had it even though it is a self-reported condition. I had pics but they would not look.

They sent me to a PhD doing clinical studies with his students for ultrasound. He wanted to check for calcium deposits in my tendons. He found those; they were a symptom of psoriatic arthritis but could go with scleroderma if anyone was looking. Then he checked my fancy skin and said it was scleroderma but he needed a biopsy to confirm it. No one would do the second biopsy because I had insulin resistance. I sent the leading professor of my case an email asking for a very simple, noninvasive, cost effective, and 99% ACCURATE test . He was very upset that I was challenging his diagnosis so he sent me a harsh email rebuking me and denying the test. I had learned to do this test myself and knew it would show early scleroderma but they would not allow this simple test to be done properly.

More Searching

I searched for another dermatologist to do a biopsy. But he read the records and said no, it was just a cosmetic problem because it was insulin resistance.

For goodness sake! These guys will not diagnose something staring them all in the face.

Back to nice-guy rheumatologist

He had told me very early on that he did not want a scleroderma patient because he hates the disease. His dad was an oncologist and he felt it was even worse than cancer. That it was to him the ugliest disease on the face of the earth and he could not take it. At that time, we thought it was a cousin disease scleredema so he said OK. I could remain his patient.

I have spent time making this guy feel good about having me as his patient. He told me that I was very rare in that I was the most informed patient in the whole clinic and they just were not used to that.

He also told me he did not have time for a complicated case. I told him I would do all the research and send him the pertinent stuff giving him links and references. He politely said thank you and accepted my offer.

Now what?

At this point, I have fully done my research and have found every single symptom that every single doctor could not explain. I have found them ALL to be the lesser known things about scleroderma including not having any antibodies. Not having the antibodies makes me an interesting patient because less than 10% of scleroderma patients have no antibodies. That makes me rare in a rare disease. I have found a dermatologist willing to do the biopsy, but he needs my medical records. It has been 3 weeks and they have not been received yet. I will bring her this information, have her do two biopsies, if she will to, determine if I have both a rare form of scleroderma and scleredema.

My own brother even rebuked me for suggesting that I have scleroderma telling me he has seen it before, and that’s not what it looks like. I reminded him he sees his patients in ICU and on their death bed so he has no idea what the early stages look like. He told me that if I continued to not lose weight I would get diabetes and die of a heart attack, rather blunt and rude. But he will not talk about scleroderma.

When doctors are so afraid of a disease they won’t even diagnose it……? You must be your own advocate.

Reviewing my records, I found I’ve seen sixty-four medical people. Holy Moly! That is how many I have had to work with through this ordeal. An unbelievable amount!!! Now I need to deliver the message to the docs so they cannot keep putting this off.

• Nystagmus found by eye doctor and confirmed by neurology.
• Dysphagia confirmed by testing.
• Sensory neural hearing loss confirmed by ear doctor.
• Muscle weakness not related to my back. Self-reported but confirmed by a physiatrist (Physical Medicine and Rehabilitation doctor).
• Bladder pain and an inability to empty my bladder, self-discovered then found in medical text.
• INFLAMED tight skin confirmed by pictures, still tight and getting tighter.
• Thick puffy fingers that are beginning to harden.
• Unnaturally pigmented skin.
• Loss of hair on legs and arms.
• Raynaud’s of feet and hands confirmed by foot doctor.
• Loss of foot pad, confirmed by foot doc.
• Loss of fat on my knees and upper thighs, shins and arms, confirmed by 3 different doctors. Unknown reason.
• Thick tight skin on chest, legs, arms, back, face, hand, elbows, knees, trunk, ankles.
• A tooth that spontaneously rotted.
• A tooth ligament that will not heal after 3 years. Confirmed by endodontist.
• Ruptured capillaries in my nail ford and cuticles.
• Disordered sleep.
• GERD.
• Constipation and diarrhea cycles which I am told is due to inflamed tendons.
• Calcium deposits at tendon sites.
• Tight foot fascia and very sore inner arches of feet that will not resolve.
• Fatigue and nausea.
• Low appetite.
• Food sensitivities.
• Drug sensitivities confirmed by doc and found as part of scleroderma in medical test.
• Joint pain with very little swelling.
• Rare symptoms with lack of antibodies…confirmed.
• Mood disorder confirmed and normal for scleroderma.