Process for getting Mixed Connective Tissue Disease diagnosis

Posted by ohiokavr @ohiokavr, Jan 22, 2019

Hello, I just found this group online and I’m hoping there’s someone who can give me some encouragement. I have lived with chronic pain and G.I. issues for several years, but one month ago I began to experience symptoms that I now know are Raynaud’s syndrome, red rash-like discoloration on my face, feeling dizzy, and extreme exhaustion.

I am 45 years old and I have always been extremely active. I hike regularly, eat healthy food, don’t smoke, etc. I was go, go, go until a few weeks ago when I had a brick wall. I have had to take a leave of absence from work because I cannot even make it through the morning.

My doctor did lab work which showed I was positive for ANA at 1:1280, so he sent me to a rheumatologist. She was very dismissive of my symptoms but ran more labs, which found that I have a high level of the RNP antibody which is a marker for Mixed Connective Tissue Disease. But she is still dismissing my symptoms! She thinks I have postural tachycardia syndrome, making my blood pressure drop when I stand up. I do not only have symptoms when I change position! I asked about all of the symptoms I am having and she said she doesn’t believe they are necessarily related. There are very few rheumatologist covered by my health insurance, so I don’t know what to do.

Does anyone here have mixed connective tissue disease? What was the process you went through for diagnosis? And what are you doing to treat it?

Interested in more discussions like this? Go to the Autoimmune Diseases Support Group.

John, Volunteer Mentor | @johnbishop | Jan 22, 2019

Hello @ohiokavr, welcome to Mayo Clinic Connect. There is another active discussion on MCTD where your post will receive more visibility. I'm tagging our moderator @lisalucier to see if we can move your discussion here. In the mean time you may want to read through the discussion and meet other members with MCTD who share some of your symptoms.

Groups > Autoimmune Diseases > MCTD (Mixed Connective Tissue Disease)
-- https://connect.mayoclinic.org/discussion/mctd-mixed-connective-tissue-disease/

Mayo Clinic has some information on Mixed connective tissue disease diagnosis & treatment here:
-- https://www.mayoclinic.org/diseases-conditions/mixed-connective-tissue-disease/diagnosis-treatment/drc-20375152

Are you able to get a referral to a rheumatologist from your doctor that your insurance company will accept?

ohiokavr | @ohiokavr | Jan 22, 2019

In reply to @johnbishop "Hello @ohiokavr, welcome to Mayo Clinic Connect. There is another active discussion on MCTD where your..." + (show)

Thank you! I didn't know there was a group. My doctor looked very hard to find outside rheumatologists covered by my insurance, but couldn't find one.

Langold | @rarelybees2889 | May 29, 2023

I do.
I was diagnosed at Mayo Clinic
I have several autoimmune diseases too
Not sure I really understand this disease very well, sorry to say...

dianel44 | @dianel44 | May 29, 2023

So I had positive labs in 2018. It was a year or so later that I was given MCTD dx. My rheumatologist came in and say my rash on my face, my Raynauds, sjogrens was evident and every joint cracked.
That being said, you need to be comfortable and heard by your rheumatologist. So sorry you are not listened to.

annewoodmayo | @annewoodmayo | May 30, 2023

In reply to @ohiokavr "Thank you! I didn't know there was a group. My doctor looked very hard to find..." + (show)

Hi Ohiokavr!

This is about your post about the "outside rheumatologists." I'm not sure what you mean by "outside," but it seems really, really odd to me that your insurance company doesn't cover rheumatologists.

If I were you, I would call the insurance company's customer service yourself and ask them about rheumatologists. And/Or check your insurance company's website for them.

I live in suburban Philadelphia, PA, where we have lots of doctors. Maybe it's different where you live, but it still seems really strange to me that your doctor couldn't find you a rheumatologist.

Is it possible that your doctor is mistaken about your insurance coverage? Unfortunately, you might need to do some "leg work" yourself on this one.

I don't suggest this lightly. I know from personal experience how hard it can be to deal with even the simplest tasks (shower, anyone?) when I don't feel well.

Best wishes and very good luck to you!

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