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

Posted by change25 @change25, Apr 24 2:41pm

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.

Hello change25 – your symptoms sure must be very worrying and I am sorry I cant help but sure you will get some feedback here. I am going through a similar stage of my life with multiple symptoms but no diagnosis and it's so frustrating. Have no medical experience but wonder if others notice from your photos the "butterfly shape" rash on your face…. I have seen this shown on Internet when they have been discussing Lupus, but am sure your doctor would have checked and ruled out? Anyway, just to say I wish you the best and hope that you get a diagnosis and that you will have better health sooner rather than later. J.

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Hello and welcome to MayoClinicConnect @change25 . We’re all volunteers but we’ve all been thru some of the same difficulties as you. Doctors kept brushing me off until I got really bad so they did a brain MRI. And then, they had no idea what they were looking at. My husband then got me an appointment at the university medical center, and they knew right away what was going on.
I know just how you feel when you Know something is going on but no one can figure it out. Has your primary care doctor referred you to any other doctors? If you are anywhere near a major medical or university medical center, I would recommend that you go there. Research the clinics and doctors first. A good rheumatologist is very knowledgeable about strange diseases.
Start keeping a journal of everything that is happening to you and things you take and how you feel. This is very helpful to the doctors.
Will you get back to me and let me know how things are going?

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@lacy2

Hello change25 – your symptoms sure must be very worrying and I am sorry I cant help but sure you will get some feedback here. I am going through a similar stage of my life with multiple symptoms but no diagnosis and it's so frustrating. Have no medical experience but wonder if others notice from your photos the "butterfly shape" rash on your face…. I have seen this shown on Internet when they have been discussing Lupus, but am sure your doctor would have checked and ruled out? Anyway, just to say I wish you the best and hope that you get a diagnosis and that you will have better health sooner rather than later. J.

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Hi Lacy, I know how you feel it is rather annoying. I can only hope that you'll get a diagnosis soon. That seems to be the issue with this area of disease many symptoms overlap making diagnosis tricky or without the eyes of a specialist they can not see what's wrong. I was referred to a dermatologist where the rash was diagnosed as rosacea, they ignored the change in my pigmentation where you can clearly see how pale I've become. Thank you, I'll keep searching for answers.

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@becsbuddy

Hello and welcome to MayoClinicConnect @change25 . We’re all volunteers but we’ve all been thru some of the same difficulties as you. Doctors kept brushing me off until I got really bad so they did a brain MRI. And then, they had no idea what they were looking at. My husband then got me an appointment at the university medical center, and they knew right away what was going on.
I know just how you feel when you Know something is going on but no one can figure it out. Has your primary care doctor referred you to any other doctors? If you are anywhere near a major medical or university medical center, I would recommend that you go there. Research the clinics and doctors first. A good rheumatologist is very knowledgeable about strange diseases.
Start keeping a journal of everything that is happening to you and things you take and how you feel. This is very helpful to the doctors.
Will you get back to me and let me know how things are going?

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Thanks Becky. That's the beauty of forums such as this, you realise you are not alone and people are fighting to regain their health. I've been referred to a dermatologist and a general MD. Unfortunately I'm not near any major medical facility. Thank you anyway and I'll keep you posted as and when I know more.

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Have you been tested for Sjogren’s Syndrome? I’ve had these symptoms and other neuropathy issues and intense pain developed over the past five months. I saw a neurologist and he had labs done to test for a range of neuropathy causes, including autoimmune. I have Sjogren’s and possibly some other disease requiring additional testing. But at least I have some answers. Best wishes! And don’t give up on your pursuit for an answer!

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@athenalee

Have you been tested for Sjogren’s Syndrome? I’ve had these symptoms and other neuropathy issues and intense pain developed over the past five months. I saw a neurologist and he had labs done to test for a range of neuropathy causes, including autoimmune. I have Sjogren’s and possibly some other disease requiring additional testing. But at least I have some answers. Best wishes! And don’t give up on your pursuit for an answer!

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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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Hello @change25, I would like to add my welcome to Connect along with @becsbuddy @lacy2 @athenalee and others. Sorry to hear your doctors have not been able to diagnose your condition and provide some treatment. It might be helpful if you can prioritize your symptoms and possibly seek a second option at a major teaching hospital or large health facility like Mayo Clinic. You might want to take a look at the Mayo Clinic symptom checker and see if it shows any possibilities – https://www.mayoclinic.org/symptom-checker/select-symptom/itt-20009075

Are you currently on any medications for other conditions?

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@johnbishop

Hello @change25, I would like to add my welcome to Connect along with @becsbuddy @lacy2 @athenalee and others. Sorry to hear your doctors have not been able to diagnose your condition and provide some treatment. It might be helpful if you can prioritize your symptoms and possibly seek a second option at a major teaching hospital or large health facility like Mayo Clinic. You might want to take a look at the Mayo Clinic symptom checker and see if it shows any possibilities – https://www.mayoclinic.org/symptom-checker/select-symptom/itt-20009075

Are you currently on any medications for other conditions?

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Hello John, thanks for getting in touch. I'm waiting to see a rhumatologist if that leads to a dead end then I'll definitely travel elsewhere. I've been prescribed folic acid as my blood test revealed low levels. You're right, it is better to prioritize symptoms rather than realing off a long list. It is quite tricky when so many things are bothering you at once. I'll have to take some time to think what is concerning me most and relay that back to who I see.

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@change25

Hello John, thanks for getting in touch. I'm waiting to see a rhumatologist if that leads to a dead end then I'll definitely travel elsewhere. I've been prescribed folic acid as my blood test revealed low levels. You're right, it is better to prioritize symptoms rather than realing off a long list. It is quite tricky when so many things are bothering you at once. I'll have to take some time to think what is concerning me most and relay that back to who I see.

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@change25 I also found another interesting site, an article and a post by @colleenyoung that you might find helpful in your search for an answer.

– Recognize symptoms of folate deficiency – https://ada.com/conditions/folate-deficiency/
– The Vitamin D–Folate Hypothesis as an Evolutionary Model for Skin Pigmentation: An Update and Integration of Current Ideas: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986434/
– Post in discussion Understanding Vitamin importance: https://connect.mayoclinic.org/comment/279672/

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Cheers for the links John. Interestingly, I seem to have most if not all of the symptoms mentioned due to folate deficiency. However, I've been taking folic acid for over a month now where my symptoms have worsened. I'll try to get another blood test to see if there's been any improvement regarding my folate levels.

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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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