Friday, July 24, 2009 Mallaither13 asks

Q: What treatment(s) are available for Mixed Connective Tissue Disease/many autoimmun. diagnosis'?

I am 28 years old and I have been unable to work for nearly five years now. Although I have been frequently ill my whole life, it wasn't until I was 23 that I began to feel continually ill and started to manifest multiple symptoms that required the consultations of several specialists. When I was 9 years old, I became extremely ill with Rheumatic Fever. I don't remember much about it except that after I 'got better' I had permanent arthritis in my hands and especially my fingers and I occaisionally would begin to suffer from painful, large skin lesions on my shins and lower legs, face, and hands. When I did have active RF, I remember the skin on my fingers completely peeled away continuously for weeks, leaving them raw and oozing. I had to use that liquid skin all the time. I occaisionally get the finger peels now and again, although they don't last more than a week or so,and do not peel as badly as they did during the active infection when I was nine. Around the age of 23, I started to feel extreme fatigue daily that worsened as the weeks passed, severe pain in my feet and hands, terrible headaches, dizziness, fainting spells, severe abdominal cramping and frequent bloody stools and uriine. My doctor at that time urged me to discontinue my employment and move back home with my mom to receive more extensive medical care that my mother was willing and able to provide me. I did so, and began to see an Internal Medicine Specialist as my primary care doctor. She immediately noticed abnormalilties in my blood work, CT scans, heart beat to list a few. I was referred to a cardiologist, who diagnosed me with sinus node tachycardic arrhythmia caused by untreated/ unmangaged care of unspecified autoimmune disease. I saw a urologist who diagnosed me with kidney stones and sponge kidney, a neurologist diagnosed me with axonal peripheral polyneuropathy, pernicious anemia, osteoarthritis and arthropathy.  My rheumatologist ran many radioimmunassay blood tests which revealed the pernicious anemia, high streptolysin-o titer, high ANA antibody, high anti-dNase B antibodies (strep antibodies) and initially diagnosed me with unspecified/undetermined autoimmune disease most likely caused by the Rheumatic Fever I had as a child. He also diagnosed me with osteo-arthritis and chronic inflammatory arthritis. When I was 26 he discovered highly abnormal thyroid TSH, T3 and T4 blood levels and said it looked like autoimmune thyroiditis. He referred me to an endocrinologist who diagnosed me with Hashimotos Thyroidits, goiter, kidney stones, and had to do a biopsy of the thyroid nodules growing on my thyroid gland. He prescribed Levoxyl to take daily to treat the Hashimotos. Shortly after  I received yet ANOTHER diagnosis from the endocrine, I became so depressed that I stopped taking my Levoxyl therapy and haven't began again sinse. I have an appointment with him in a few weeks and i fully plan on following his orders this time. He was the only doctor that I  have seen sinse 2004 (out of 13 specialists too) that provided a diagnosis through diagnostics and provided an actual treatment plan for what I had. I cannot say the same for my rheumatologist, who had me taking large doses of penicillin VK daily "in hopes of" preventing the strep antibody levels from rising any further. After over 3 years under his care, he discovered my thyroid condition and prescribed me hydroxychloroquine for it. Although the endocrinologist disagreed with that and immediately took me off it, it was the only time this rheumatologist offered some sort of treatment for my conditions. The penicillin was suggested as a 'just in case' thing. He had taken many xrays of my hands, knees, etc. and told me that the osteoarthritis in my hands was so severe that if he had not known the patients' age on the xray, he would've guessed I was in my late 50's early 60's the joint deterioration was so bad, yet he never offered ANY help with this problem. He just continually took blood every visit and went over the results with me every three months or so and always shunned me for taking narcotic pain medicatios for the chronic pain that my neurologist/pain management specialist was prescribing. I saw all of these specialists because my primary care doctor sent me to them, and after a couple of years of one diagnosis after the other and over 14 specialists, she determined that my main diagnosis was nonspecific mixed connective tissue disease. She admitted that she had little knowledge of such an illness and was unable to properly treat it. she referred me to the Mayo clinic, which my insurance doesn't pay for. I have been working on getting myself there somehow, but in the meantime, I am very concerned that I have not received ANY treatment options like prednisone, immunosuppressants, and similar medications commonly used to treat autoimmune diseases. Since 2004 my health went from good, where I was able to work full time and live on my own ( since age 17), to going through the change from independence to dependence, inability to complete college courses because of this illness, periodically being unable to walk without assistance, unable to use my hands properly, severe depression due to realization i have a chronic illness that can and does kill many who have it, even those receiving the available treatments. I can feel my body slowly shutting down as the months pass, and I very angry that NONE of these doctors have offered to even try corticosteroids or immunosuppressants to get this illness under control. I have spoken to them about my  coming across the knowledge of these particular treatment options during my many hours of research, and they all either react to my speaking to them about this as me behaving as a hypochondriac reading too many medical texts, or trying to act as though I know more than them and shrug me off, or tell me they know nothing of what I speak of and never attempt to become acquainted with these options.  I DONT KNOW WHAT TO DO! I feel like I am dying slowly but indefinately and I feel sicker and sicker as the weeks pass. I became so discouraged with this wall I seemed to have hit in my medical care, that I stopped going to many of my followups with most of these doctors, including my primary care. The last time I saw her she insisted I see a psychiatrist about my depression before I return, and although I have done this and have been in therapy for nearly four months now, I took about a year to follow through with those orders. I am finally trying to face these problems head on, and have scheduled appointments with ALL of my doctors within the next three weeks or so. I was hoping that someone might know what I really ought to be hearing from these docotors, and what kinds of options I should be getting from them as far as treatments go. I know I will die sooner that later if I dont start getting some kind of care for this illness. My skin has broken out in lesions all over my legs that have been there now for almost two years, they never heal. THe headaches are so severe sometimees that I loose vision in my right eye for several minuntes when they get really bad, my arthritis prevents me from being able to really complete ANY household tasks or even personal grooming rituals often, and the pain is no longer being relieved like it used to be when the neurologist started me on narcotic pain killers in 2005. I have take Fentanyl, oxycodone, hydrocodone, oxymorphone, and am now on morphine. I have scheduled some accupuncture sessions I will soon be attending, they helped out a few years ago when my insurance approved a handfull of visits over the summer. Anyway, what treatment options does one have with this disease made out of smaller diseasees/disorders (mixed connective tissue disease) that might make a difference. I apologize for the short novel I have writen here; my issues are impossible to explain to a point where one might begin to understand them, unless I have a few hours of their time, or write a book about it. I greatly appreciate your time, whomever you are. I hope wherever you are you are enjoying life and having a wonderful day.

Yours truly,

M. A. Kinney

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Answers (1)
Lene Andersen, Health Guide
7/30/09 10:41am

I am so sorry that you have gone through such a hard time and not been helped by your doctors. No wonder you're depressed!  And isn't it typical - the doctors can't actually help you, so they start making it about what's in your mind. You probably wouldn't be this depressed if you were getting help and medical care...

 

Unfortunately, although I know a lot about RA and a smattering of things about other conditions, I am left speechless and stumped by your story. I can suggest a couple things, though. You do in the right thing by doing a lot of research - not only does it give you a bit of a feeling of control (very important in situations such as yours), but you're educating yourself about your condition and therefore will be an active partner in your medical care. Of course, as you found out, not all doctors can handle that.  However, I'm wondering if it would be worth it for you to talk to your doctor about trying steroids or immunosuppressants - nothing else seems to be working, so why not give it a whirl? if it doesn't help, you go off it, but maybe it would. Of course, you have to consider whether or not it could make your condition worse, but hopefully, you and your doctor would be able to have a conversation about risk-benefit balance.

 

In terms of the Mayo Clinic. I wonder if they have "pro bono" program of sorts? You could try contacting them to ask or find out from your doctor what department would be seeing you and write the head of that department a letter.  Tell them your story, tell them how you feel you're going to die unless you get help and ask whether there is a program for people whose insurance doesn't cover the cost. You never know, you may find somebody who is either compassionate enough or so intrigued by your case that they'll want to see you.

 

I hope you find the help you need.  if you can, please let me know how things go?

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By Mallaither13— Last Modified: 12/25/10, First Published: 07/24/09