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.

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

You never know where life's path will lead...we have to be open to see, understand and follow. You are doing that! BEAUTIFULLY!
BLESSINGS on your journey. Elizabeth

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Update: For the time being they've decided to put the MRI scan on hold. They've stated that noticeable atrophy has taken place. However, the neurologist is hesitant as it's extremely rare for PRS to affect both sides of the face. Instead, they've decided to refer me to an endocrinologist where they will conduct a full hormone profile. I must praise the medical staff as they are doing everything they can to diagnose me.

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@change25

Update: For the time being they've decided to put the MRI scan on hold. They've stated that noticeable atrophy has taken place. However, the neurologist is hesitant as it's extremely rare for PRS to affect both sides of the face. Instead, they've decided to refer me to an endocrinologist where they will conduct a full hormone profile. I must praise the medical staff as they are doing everything they can to diagnose me.

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I agree! But, I also praise you for being the best advocate for yourself! You have and are doing a wonderful job getting your medical professionals on your side, working for you. Sounds like you're on your way now to getting real answers.....you can be proud of yourself. Many folks cannot do this for themselves...you are special!
Blessings...keep in touch...Elizabeth

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@ess77

I agree! But, I also praise you for being the best advocate for yourself! You have and are doing a wonderful job getting your medical professionals on your side, working for you. Sounds like you're on your way now to getting real answers.....you can be proud of yourself. Many folks cannot do this for themselves...you are special!
Blessings...keep in touch...Elizabeth

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Some would say I'm irritating, haha. I believe persistence is key. Much of my confidence in pushing for answers is from the support of the wonderful members on here such as yourself. When it comes to medical professionals - many seem intimidated by them, where they don't want to feel like a burden. However, If you ask the right questions and approach them in the correct manner the majority will do everything they can to resolve your issues.

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@change25

Some would say I'm irritating, haha. I believe persistence is key. Much of my confidence in pushing for answers is from the support of the wonderful members on here such as yourself. When it comes to medical professionals - many seem intimidated by them, where they don't want to feel like a burden. However, If you ask the right questions and approach them in the correct manner the majority will do everything they can to resolve your issues.

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Absolutely! Theirs is a helping profession....blessings as you walk this journey. elizabeth

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@change25

Some would say I'm irritating, haha. I believe persistence is key. Much of my confidence in pushing for answers is from the support of the wonderful members on here such as yourself. When it comes to medical professionals - many seem intimidated by them, where they don't want to feel like a burden. However, If you ask the right questions and approach them in the correct manner the majority will do everything they can to resolve your issues.

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I understand what you are saying @change25. I was much older than you when I discovered that when you have a hard-to-diagnose problem, you need to be persistent, even if means being irritating. I don't mind being irritating now because I realize that persistence is the best way to get and to keep the attention of your medical team.

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@hopeful33250

I understand what you are saying @change25. I was much older than you when I discovered that when you have a hard-to-diagnose problem, you need to be persistent, even if means being irritating. I don't mind being irritating now because I realize that persistence is the best way to get and to keep the attention of your medical team.

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It's a daunting prospect. Unfortunately, if you don't fight for yourself no one will. Especially with autoimmune diseases, from the little experience I have, they are extremely difficult to identify and diagnose. I think you learn that if you don't ask you won't get. So the more prepared you are the better your chances. I'm lucky in that I stumbled across this space, it gave me the knowledge and confidence I needed to push for answers.

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@change25

It's a daunting prospect. Unfortunately, if you don't fight for yourself no one will. Especially with autoimmune diseases, from the little experience I have, they are extremely difficult to identify and diagnose. I think you learn that if you don't ask you won't get. So the more prepared you are the better your chances. I'm lucky in that I stumbled across this space, it gave me the knowledge and confidence I needed to push for answers.

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Fortunately, there is a wealth of medical resources on the internet. So, I know I can’t diagnose my ongoing, as yet undiagnosed symptoms, I nonetheless have some leads based on what my neurologist thinks and my labs. So like yourself and others in this discussion I’ll keep up my research while I continue in my queue to see the specialists! At least I’ll have the knowledge to question what they say if I’m not sure I agree with their recommendations.

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@change25 Have you contacted anyone yet about some genetic workup? Especially Ambrygen or Apollo or Sequencing?

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@athenalee

Fortunately, there is a wealth of medical resources on the internet. So, I know I can’t diagnose my ongoing, as yet undiagnosed symptoms, I nonetheless have some leads based on what my neurologist thinks and my labs. So like yourself and others in this discussion I’ll keep up my research while I continue in my queue to see the specialists! At least I’ll have the knowledge to question what they say if I’m not sure I agree with their recommendations.

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Indeed, it gives you some scope but at the same time it is also overwhelming. That's where it is extremely helpful that you can discuss what you are going through before you stumble down the wrong path. Please update me when you hear anything, all the best.

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