At a loss, multiple consultations still no answer...any idea?

Posted by change25 @change25, Apr 24, 2021

In the last year my health has rapidly declined, I've recently had a blood test which was normal except for my folate which was low. My Dr conducted an examination, but was unable to properly diagnose me.

Any idea what it may be from these symptoms:
*Pulsating headache, difficulty focusing.
*Weak eyes where they feel droopy along with being dry and painful.
*Dry and sore mouth.
*cheek and jaw pain.
*Changes in pigmentation, face appears gaunt.
*Back pain.
*Odd tingling sensation present in hands and feet.
*cold hands along with an odd rash present on hands and knuckles, which is a deep purple.

I know something isn't right, yet I'm unable to obtain the answers I need. I've added some images before the changes occurred to now so that you can get a context into what's occurred. Any insight will be greatly appreciated, many thanks.

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@change25

I'm glad you've finally managed to get some information. The issue is that near me there are very few specialists that deal with these types of issues. I've been able to see general MD's who've been unable to diagnose me dispute noticing changes in my appearance. I'm 90% sure that it is some type of connective tissue disease… I'm awaiting to see a rhumatologist but given the shortage and covid situation it will be awhile. The fatigue and pain has noticeably increased, along with changes in my face. I can only hope that it will stabilise and that it doesn't continue to progress.

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I can relate, small town, rural. Fortunately, Southern Vermont is trendy and the local hospital has an excellent neurologist. Can you be referred to a neurologist near you? Mine thought my issue was possibly Sjogren’s or autoimmune related as I have PBC which caused liver disease (which was only found out by a specialist in a large hospital 2 hours away…my local primary assumed I was an alcoholic!).

So. If you can try to see one. I’m not sure how I’ll be able to move forward with treatment and additional tests I need, but I can drive a few hours and get to a couple of good hospitals, as long as insurance covers it. So, don’t give up!

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@change25

I'm glad you've finally managed to get some information. The issue is that near me there are very few specialists that deal with these types of issues. I've been able to see general MD's who've been unable to diagnose me dispute noticing changes in my appearance. I'm 90% sure that it is some type of connective tissue disease… I'm awaiting to see a rhumatologist but given the shortage and covid situation it will be awhile. The fatigue and pain has noticeably increased, along with changes in my face. I can only hope that it will stabilise and that it doesn't continue to progress.

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Oh, I meant to add your rheumatologist can definitely order the labs. There’s a lot of info on Sjogren’s, so if you become knowledgeable at least you have the questions to ask about treatment. Because you’ll also need to see an ophthalmologist, dentist, and possibly a hematologist.

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@athenalee

I can relate, small town, rural. Fortunately, Southern Vermont is trendy and the local hospital has an excellent neurologist. Can you be referred to a neurologist near you? Mine thought my issue was possibly Sjogren’s or autoimmune related as I have PBC which caused liver disease (which was only found out by a specialist in a large hospital 2 hours away…my local primary assumed I was an alcoholic!).

So. If you can try to see one. I’m not sure how I’ll be able to move forward with treatment and additional tests I need, but I can drive a few hours and get to a couple of good hospitals, as long as insurance covers it. So, don’t give up!

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I'm sorry to hear that. Are you still unsure what's going on then?
I can, yes – do you think it would be better to see a neurologist instead of a rheumatologist? This week has been awful, pretty much had constant tingling in my legs, arms and hands. I'm having to force my eyelids to stay open and the muscle ache has been horrific. Hopefully our luck will turn around soon.

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@change25

I'm sorry to hear that. Are you still unsure what's going on then?
I can, yes – do you think it would be better to see a neurologist instead of a rheumatologist? This week has been awful, pretty much had constant tingling in my legs, arms and hands. I'm having to force my eyelids to stay open and the muscle ache has been horrific. Hopefully our luck will turn around soon.

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It seems fairly certain I have Sjogren’s, but my labs showed there is something else going on, so I’m to see both a hematologist and a rheumatologist. With neuropathy, if it were me, I’d see both a rheumatologist and a neurologist, at least until you get a firm diagnosis.

My neurologist took labs, but he also had me get an MRI of my brain and a second of my spine. And, I got an EMG and nerve induction test. All these can help the neurologist determine what is causing your symptoms. And, down the line, the neurologist may be able to help you better adapt to neuropathy and also prescribe more appropriate meds for pain.

The pain is clearly the worse symptom. For me I’ve learned to plan shopping, laundry, etc. as these make me hurt worse and are exhausting. Also, sleep can be hard, which you’ve undoubtedly found, so I take 200-300 mg of Gabapentin at night. This helps with the foot pain, nerve pain, and sleep. I also walk 1.5-2.5 miles a day and do Tai Chi exercises, to help keep me in shape and more limber.

I hope you get your appointment soon! Let me know how things go. There are so many informed people on Connects and I was just told about a discussion group for Sjogren’s. PN and autoimmune diseases are both hard to diagnosis and find solutions. Moreover, I’ve discovered they are often related, since I now have been diagnosed with 3! All with different treatments.

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@athenalee

It seems fairly certain I have Sjogren’s, but my labs showed there is something else going on, so I’m to see both a hematologist and a rheumatologist. With neuropathy, if it were me, I’d see both a rheumatologist and a neurologist, at least until you get a firm diagnosis.

My neurologist took labs, but he also had me get an MRI of my brain and a second of my spine. And, I got an EMG and nerve induction test. All these can help the neurologist determine what is causing your symptoms. And, down the line, the neurologist may be able to help you better adapt to neuropathy and also prescribe more appropriate meds for pain.

The pain is clearly the worse symptom. For me I’ve learned to plan shopping, laundry, etc. as these make me hurt worse and are exhausting. Also, sleep can be hard, which you’ve undoubtedly found, so I take 200-300 mg of Gabapentin at night. This helps with the foot pain, nerve pain, and sleep. I also walk 1.5-2.5 miles a day and do Tai Chi exercises, to help keep me in shape and more limber.

I hope you get your appointment soon! Let me know how things go. There are so many informed people on Connects and I was just told about a discussion group for Sjogren’s. PN and autoimmune diseases are both hard to diagnosis and find solutions. Moreover, I’ve discovered they are often related, since I now have been diagnosed with 3! All with different treatments.

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It sounds like a minefield, hopefully you'll have a better understanding after your consultations. I'll try to get the ball rolling, I didn't mention to my Dr about the tingling sensation as it's only recently occured. Hopefully, from that along with my other symptoms they'll refer me to a specialist as it's worrying how it's spreading further up my leg and isn't going away. Will do, if anything happens I'll make an update to this page. All the best.

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@change25

It sounds like a minefield, hopefully you'll have a better understanding after your consultations. I'll try to get the ball rolling, I didn't mention to my Dr about the tingling sensation as it's only recently occured. Hopefully, from that along with my other symptoms they'll refer me to a specialist as it's worrying how it's spreading further up my leg and isn't going away. Will do, if anything happens I'll make an update to this page. All the best.

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Hello, @change25, @johnbishop, @becsbuddy, @athenalee, @lacy2 and all……John Bishop is on top of the research on a lot of the supplements, quality, etc. Each of us who've shared with you are dealing with some or most of your symptoms, but since we're not physicians, we're patients like you, we can support and share, but not advise.

I have most of your symptoms and have been dealing with them for over 40 years, I urge you to see a good rheumatologist and he may well refer you to a neurologist. I have several autoimmune diseases, like @athenalee with Sjogren's, Sarcoid, and others….but, you may have something entirely different. The rheumatologist is key as he deals with autoimmune diseases and a lot of strange diagnoses like this.

Also, let me reiterate what Becky and John and Colleen said…..seeing doctors at a large hospital or clinic like Mayo or Cleveland or Mass or whatever can be very important for the right diagnosis and to get treatment begun. Then, at or near home, you have the support network of doctors who can keep everything going smoothly.

I live in a city in Florida near Mayo Florida, so don't have the challenges you do about getting to physicians.
Hopefully, you see the new doc soon and he gets the testing started and you begin to get answers.
Blessings, and may you receive answers and peace. elizabeth

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@ess77

Hello, @change25, @johnbishop, @becsbuddy, @athenalee, @lacy2 and all……John Bishop is on top of the research on a lot of the supplements, quality, etc. Each of us who've shared with you are dealing with some or most of your symptoms, but since we're not physicians, we're patients like you, we can support and share, but not advise.

I have most of your symptoms and have been dealing with them for over 40 years, I urge you to see a good rheumatologist and he may well refer you to a neurologist. I have several autoimmune diseases, like @athenalee with Sjogren's, Sarcoid, and others….but, you may have something entirely different. The rheumatologist is key as he deals with autoimmune diseases and a lot of strange diagnoses like this.

Also, let me reiterate what Becky and John and Colleen said…..seeing doctors at a large hospital or clinic like Mayo or Cleveland or Mass or whatever can be very important for the right diagnosis and to get treatment begun. Then, at or near home, you have the support network of doctors who can keep everything going smoothly.

I live in a city in Florida near Mayo Florida, so don't have the challenges you do about getting to physicians.
Hopefully, you see the new doc soon and he gets the testing started and you begin to get answers.
Blessings, and may you receive answers and peace. elizabeth

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Hello Elizabeth, thanks for getting in touch. Yes, it is a brilliant community and I greatly appreciate all the response I've received. I'm sorry you've had to deal with this for such a long time, hopefully you've managed to find some relief. I'll give my Dr one last try as when I was last seen I did not have this stabbing pain or persistent tingling. Once that avenue has been exhausted I'll look at a larger medical facility. All being well I'll have some answers within the next few weeks.

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Update: I've spoken to my Dr, despite my concerns he is reluctant to refer me to a specialist. However, he is sending me for further blood tests. Are these likely to reveal anything or is it a waste of time? If so I'll just bite the bullet and go private.

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@change25

Update: I've spoken to my Dr, despite my concerns he is reluctant to refer me to a specialist. However, he is sending me for further blood tests. Are these likely to reveal anything or is it a waste of time? If so I'll just bite the bullet and go private.

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@change25 Did your doctor say what the additional blood tests would be looking for? Just wondering if he was blowing off your concerns or really trying to help determine what is causing your symptoms. I imagine a blood test can find a lot of potential causes if they are testing for those specific conditions in the blood.

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@change25

Update: I've spoken to my Dr, despite my concerns he is reluctant to refer me to a specialist. However, he is sending me for further blood tests. Are these likely to reveal anything or is it a waste of time? If so I'll just bite the bullet and go private.

Jump to this post

thing is, why not refer you to a specialist and let the specialist decide ? they prioritize and you may have to wait a while but will put your mind at ease and may have seen many cases such as yours over the years….although maybe wait til next results of blood test? J.

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