Expect the Unexpected When Receiving Second Opinions

Like many of people with Sarcoidosis, I have long been frustrated with coming to a diagnosis and treatment for what seems to be a rare disease which has no clear diagnostic criteria, and no generally agreed upon treatment. The medical issues that most people diagnosed with Sarcoid are divergent to say the least, and the impression of what Sarcoid is, is dependent on the specialty of the people who treat it. When all you have is a hammer, much of the world looks like a nail.
If you have pulmonary symptoms than the disease looks like a lung disease which seems to improve (often dramatically) with steroids. If you have pain in your feet (common) then it looks like an inflammatory joint or tissue disorder- which improves (sometimes dramatically) with steroids. Depending on conditions, it may look like a neurological disorder, or cardiac disease, other endocrine problem, or about anything.. and it often improves (dramatically) with steroids. Sometimes the symptoms come and go without explanation over time. Many people have overwhelming fatigue as their major symptom- only to become worse with treatment of depression, but improve with steroids. A biopsy of almost anywhere affected may show granulomatous infiltration- but consistent but not dramatically diagnostic. (I have had numerous CT and MRI as well as PET scans- showing progression of disease and then improvement on steroids.
The first pulmonologist I saw concluded that I had Idiopathic pulmonary fibrosis (not yet 50) and advised me to go home and get my affairs in order. When I self medicated with prednisone- he asked me what for? He said the side effects would be too intense and I was going to die anyway. My lungs went from ground glass appearance to near normal with some granulomas in a few weeks, then when I tapered the steroids- the changes returned. Pulmonary functions also went from excellent in the past, to awful, and then improved with steroids. My Diffusion Capacity went from normal to as low as 25% and now it remains in the mid 80s (close to normal). During the evaluation, my pulmonologist considered multiple causes like BOOP or IPF- and came up with tentative diagnosis of Hypersensitivity pneumonitis from exposure to metal working fluids aerosolized in the factory where I was a plant physician. Statistically I am a clear outlier from expected life of 18 months (now well over 20 years and counting.)
I had issues with pain in my feet- and symetrical migratory polyarthropathy in joints commonly associated with Rheumatoid arthritis- and 40 years ago Mayo Clinic diagnosed me with sero-negative RA and placed me on Plaquinil which gave some help but bothered my peripheral vision, but when I ended up on steroids my pain went away, and has only recently returned as I am weaned of steroids. RA titers were negative, but sed rates were well over 100 (high).
I also have had issues with overwhelming fatigue- at times forced to take a rest under my desk at work, or stop the car by the side of the road on the way home to avoid crashing. I have had numerous sleep studies, and wear an IPPB machine at night, and manage my sleep cycles, but it remains an issue- and sleep people think I have narcolepsy based upon monitored 24 hour sleep studies.

I have had all the usual issues with steroid use- weight gain (at one time reached 320 pounds- now down to usual weight of 170 pounds), and insulin resistance with elevated blood sugars- but now am well controlled although had to add insulin which increases hunger and leads in me to weight gain. The pain in feet and joints is similar to what it was 40 years ago- almost exactly, but my internist says that I am a diabetic so that must be the reason. Gabapentin did not help the pain, but did make my feet swell dramatically, Doxepin also did not help the pain but made my mouth dry, bothered bowels, and sedated me further to point I could not get out of bed. Methotrexate was added which causes lung disease in some, and is not recommended if it bothers my kidney function- which it did. It is also now stopped.

There are no clear guidelines for drugs that help Sarcoidosis, but there are some for RA- and I have a form of RA. I have started an infusion of Remacaid, and it appears to be helping all of the symptoms- pain, fatigue, joint issues (I am putting off my rotator cuff surgery as my function seems better), and my pulmonary funcion studies have been slipping the last couple years, and when repeated next month I am hoping are at least stablized.

Sarcoidosis is a poorly understood disease which affects people in a variety of ways. It seems that for one person with the disease I am getting relief from an anti TNF drug, although I expect to remain of Steroids for life. Due to insurance limitations, the cost of Remicade (I use infliximab as substitue) can be prohibitably expensive, So you need to find a provider who will listen to you and do their homework. Do not expect a provider to have seen people who are just like you. In a metropolitin area of 1 million people there are likely 150 people who have sarcoid, and some will have primarily lung disease, or primarily heart or other organ disease, and some will be ethnically different, or dramatically different age. All indians walk singe file... at least the one I saw did- is not a comment on Native Americans, but how we view the world. Physicans tend to view the world in terms of the cases they saw. On our board exams there was one patient with Sarcoid- a 30 year old black woman whose symptoms improved with a short course of steroids. Statistically it appears that there are more blacks than whites, and young people verses older, and more women than men with sarcoid. I wonder how many like me, thought this was a disease to look for in young black females, and do not look for it in others. Of course there is little reason to look for the disease if no treatment is approved anyway. I am an elderly white man, and despite separate open lung biopsies to confirm the diagnosis- I had to fight to get treatment authorized.

I have had sarcoidosis for likely well over 50 years, and it does wax and wane- but I have been on the Infliximab now for 8-9 months and I believe it is helping at least me. I think it is important to participate fully in your own care, and not expect your provider to know everything, but should be willing to listen to your concerns. For me at this time, it seems to be working.