Share this:
helpdiagnoseme
@helpdiagnoseme

Posts: 5
Joined: Mar 15, 2018

PLEASE HELP ME! UNDIAGNOSED

Posted by @helpdiagnoseme, Wed, Mar 14 10:18pm

I am at my wits end. I have been suffering from autoimmune issues and getting nowhere with doctor visits. About 5 years ago, roughly 2 years after I had my daughter, something hit me hard and has been ongoing ever since. I'm going to breakdown a typical flare up or relapse of my symptoms in basic order as they come:

1.)Sudden fatigue and or severe lethargy
2.)Instant swelling of my hands and sometimes feet
3.) Severe abdominal inflammation
Pain can be from uncomfortable to laying down moaning in pain
4.) Constipation or diareah
5.) Body aches, especially my joints
6.) Blurry vision, hard to focus
7.) Mental fog, forget what I'm saying
8.) Moments I feel like I'm fading, possible passing out
9.) Moments where my heart speeds up
10.) Sometimes I feel nauseas
11.) Sometimes these symptoms can slam me simultaneously to the point I think I need to go to the hospital, bc I'm scared.
12.) Everytime I have a flare up, I get an infection, bladder, kidney, lung, sinus, ear, colitis, vaganosis, you name it, it's gonna happen.
13.) Loss of feeling in my arms, especially when I sleep
14.) I now have had a consistent muscle spasm in my left arm,going strong for 3 weeks.

Previous medical history,
Seizure, cause unknown, although I think,it's anxiety.
Anxiety, but treated and controlled,
I'm very active, happy and run a business. If one more doctor tells me to see a psychiatrist, I will loose it. Not to mention my psychologist was pissed at the doctors bc she could see my visible swelling and I was in pain.

These episodes are becoming more frequent and the symptoms are growing.
I'm physically and mentally exhausted and desperate for answers.

I have a huge hunch what it is, but can't get referred to a specialist because…get this…
ALL MY BLOOD WORK COMES BACK NORMAL. Something is seriously being missed.

Thank you
Julia

REPLY

Hello @helpdiagnoseme, welcome to Connect. I’m sorry to hear you are having a difficult time getting a diagnosis. Connect is a good place to share your health concerns and learn what other Connect members with similar health concerns are doing for treatments. There is currently another discussion for undiagnosed autoimmune diseases that may be helpful to read through here:
https://connect.mayoclinic.org/discussion/undiagnosed-auto-immune-disease/bookmark/?ajax_hook=action&_wpnonce=8933e3d2d7.

Also, I would like to invite other Connect members who have posted about undiagnosed autoimmune diseases to see if they have any suggestions. @lisabeans, @cmtg, @pinkmk, @aman_23_23, @mommaj, @tljam, @whitechinacat, @palscoreen, @terryblink, @pinkstar, @rebo, @v1crew, @jewel8888, @tbeckys, @WendyAnne, @559purplepatty, @atorset, @beff2468, @taterjoy do you have any suggestions you can offer @helpdiagnoseme?

I’m not sure if it is an option for you but if it is, the Mayo Clinic is very good at diagnosing health issues that are difficult to diagnose. If you would like to seek help from Mayo Clinic, you can contact one of their appointment offices. The contact information for Minnesota, Arizona and Florida can be found here:

Mayo Clinic Contact Information: http://mayocl.in/1mtmR63.
Mayo Clinic Tours – YouTube Videos: http://bit.ly/2o3jvMj

I thought this video maybe helpful to let you know you are not alone

What happens when you have a disease doctors can’t diagnose TED talk by TED Fellow Jennifer Brea who became progressively ill with myalgic encephalomyelitis, commonly known as chronic fatigue syndrome.

https://www.ted.com/talks/jen_brea_what_happens_when_you_have_a_disease_doctors_can_t_diagnose

John

So sorry you are going through this. Unfortunately we have to be our own advocate in this journey. How many doctors and what type of doctors have you been to? What labs have been run and how long ago? You can still have RA or other autoimmune diseases without positive bloodwork. I would keep searching for the right doctor. If you don't need referrals, I would go to a rheumatologist and/or a neurologist. It took me 3 years to find a rheumatologist who listens and wants to help. I am still undiagnosed but am finally getting some relief.

@Dear Julia, I am here for you and so are others. We do understand your pains, all the aggravation and frustrations that go with it. Hang in there. I am not a professional but a caring person just like the rest of us who are with you. There are others like John Bishop who will be with you. I do care for you. Peach

@lisabeans

So sorry you are going through this. Unfortunately we have to be our own advocate in this journey. How many doctors and what type of doctors have you been to? What labs have been run and how long ago? You can still have RA or other autoimmune diseases without positive bloodwork. I would keep searching for the right doctor. If you don't need referrals, I would go to a rheumatologist and/or a neurologist. It took me 3 years to find a rheumatologist who listens and wants to help. I am still undiagnosed but am finally getting some relief.

Jump to this post

Thanks for your response. In my ignorance I don't Ask to see the tests. I know labs and lab ranges are not all the same either. I've only gone to 2 different primary cares. On the downside I have a state insurance in CT which offered the worst options. I need a referral and the doctors won't give me one. I'm working on taking my own blood work through a third online party who will do a larger panel I can post it to get opinions and go from there.

@johnbishop

Hello @helpdiagnoseme, welcome to Connect. I’m sorry to hear you are having a difficult time getting a diagnosis. Connect is a good place to share your health concerns and learn what other Connect members with similar health concerns are doing for treatments. There is currently another discussion for undiagnosed autoimmune diseases that may be helpful to read through here:
https://connect.mayoclinic.org/discussion/undiagnosed-auto-immune-disease/bookmark/?ajax_hook=action&_wpnonce=8933e3d2d7.

Also, I would like to invite other Connect members who have posted about undiagnosed autoimmune diseases to see if they have any suggestions. @lisabeans, @cmtg, @pinkmk, @aman_23_23, @mommaj, @tljam, @whitechinacat, @palscoreen, @terryblink, @pinkstar, @rebo, @v1crew, @jewel8888, @tbeckys, @WendyAnne, @559purplepatty, @atorset, @beff2468, @taterjoy do you have any suggestions you can offer @helpdiagnoseme?

I’m not sure if it is an option for you but if it is, the Mayo Clinic is very good at diagnosing health issues that are difficult to diagnose. If you would like to seek help from Mayo Clinic, you can contact one of their appointment offices. The contact information for Minnesota, Arizona and Florida can be found here:

Mayo Clinic Contact Information: http://mayocl.in/1mtmR63.
Mayo Clinic Tours – YouTube Videos: http://bit.ly/2o3jvMj

I thought this video maybe helpful to let you know you are not alone

What happens when you have a disease doctors can’t diagnose TED talk by TED Fellow Jennifer Brea who became progressively ill with myalgic encephalomyelitis, commonly known as chronic fatigue syndrome.

https://www.ted.com/talks/jen_brea_what_happens_when_you_have_a_disease_doctors_can_t_diagnose

John

Jump to this post

Thank you, I'm going to look through all of these. I use to live in Scottsdale near the Mayo clinic, I wish I was still there and not in CT.

@peach414144

@Dear Julia, I am here for you and so are others. We do understand your pains, all the aggravation and frustrations that go with it. Hang in there. I am not a professional but a caring person just like the rest of us who are with you. There are others like John Bishop who will be with you. I do care for you. Peach

Jump to this post

Thank you Peach. I'm just trying to figure out what steps to take at this point. If my insurance won't cover me just going to any doctor, and my primary's won't refer me. Where do I go from here? I've heard I can get certain companies to do full panels that most docs won't do and I just have to go to the lab for the blood work. And if anything comes back abnormal then to bring it to my primary cares. Have you heard of any of these?

@peach414144

@Dear Julia, I am here for you and so are others. We do understand your pains, all the aggravation and frustrations that go with it. Hang in there. I am not a professional but a caring person just like the rest of us who are with you. There are others like John Bishop who will be with you. I do care for you. Peach

Jump to this post

Hi, I’m sorry you’re having such a terrible struggle with the symptoms, and findig a doctor who can diagnose and help you. 18 months ago I was hit HARD by a very rare autoimmune disease… it came out of nowhere, and both the disease symptoms and medication side effects have ravaged me and my life. Here are a few thoughts about your post:

1. What is the disease or condition that you suspect is the cause? Your ability to discern so many specific symptoms makes me think you are probably on the right path to diagnosis… often we can internally sense connections or patterns that are hard to explain to a doctor.

This is what happened with me… I had a lot of mysterious and seemingly unrelated symptoms that kept evolving and getting progressively worse for 3.5 months, and because I was experiencing enormous pain, I saw TWELVE differnt doctors from numerous specialties in that short time… some wanted to help but didn’t know how, and others said it was anxiety (like your experience) and just dismissed me. But I had a strong feeling it was something autoimmune, and ultimately I was the one who finally discovered my own rare disease – Relapsing Polychondritis. Thankfully I was scheduled to see a second Rheumatologist the next week (lucky doctor #13), and he was willing/able to confirm that diagnosis. There is no cure and I have had enoumous difficulty with treating symptoms and achieving remission, but the day I found that correct diagnosis and a doctor who wanted to help me was THE. BEST. DAY.

2. It’s very unlikely that a Primary doctor will be able to diagnose you properly, but they can/should definitely be referring you for evaluation by one or more specialists. Sometimes they don’t exactly realize how serious your symptoms are, and/or often dismiss your complaints/descriptions if they don’t quite make sense at first glance…. this is very common actually.

My recommendation is to go back to your Primary doctor ASAP and calmly explain that your symptoms are still on-going and very serious (bring written notes – so you don’t forget things, and also so you appear rational and reasonable and it becomes much harder for them to simply dismiss you and say it’s anxiety), and politely and firmly INSIST that he/she help you determine some next steps and the best specialist to try first… don’t leave without one or more referals, there is NO reason they should resist this request. And yes, request a copy of all prior lab results.

3. Continue recording your syomtoms (great job with that btw), take pictures if applicable (this was critical with my diagnosis), and if you can, you might try to sort of chronologically chart out your symptoms… sometimes this allows you to see other factors that would never occur to you otherwise. For me, I discovered that starting or stopping certain medications were the cause of several big complications, and also that my sleep has a HUGE impact on certain symptoms.

I hope you find answers and get the help you need very soon!

@helpdiagnoseme Hi, Julia. You may not know this, but some of us have got into trouble by trying to help others diagnose their troubling problems, like your particular form of Amyloidosis. it is a mis-folded protein disorder which leaves dead or dying protein carcasses in any part of the body. It affects humans and other animals, insects, and other stuff. One of the most popular mutations is ATTR, a mutation which is scattered around your body with the transthyretin material in the blood. You can find the best info on it at the Mayo web site, and watch several of the videos by Martha Grogan and others. And also Check Alnylam Pharmaceuticals, the AmyloidosisFoundation.Org, Pfizer, and places like medscape, cancernet.com, etc. Lots of material. Most of it moves very slowly as a progressive thing. It is also very deadly. You have named many of the symptoms. If you look at my Amyloidosis Dossier, at https://bit.Ly/1w7j4j8, you will see a much longer list of symptoms. I think my list is about 200, nearly all noted by clinics, hospitals, etc over the last 70 years. Anyhow, it is free. Amy is deadly, but she moves slowly unless she gets into the sensori-motor nerves between brain and heart, lungs, kidneys, pancreas, etc. One advice: Fa doctor at an AAA111 clinic like Mayo, Sloan-Kettering, Boston, Fred Hutch, etc. You absolutely must be attached to a top med lab for the diagnosis to advance. Let us know. I just realized you live in CT, so are sandwiched between two of the top Amyloidosis clinics in the world, Boston's Brigham and Women's, and NYC Sloan Kettering. They both rank in the top ten worldwide.

Your symptoms sound just like mine and I have MCTD Mixed Connective Tissue Disease. I have muscle inflammation as well. I also have Lupus of the skin. Do you have a Rheumatologist? If not mention to your family doctor that you would like to be referred so you can find out exactly what is going and what it is that you have. You could also have Myofascial pain too. I have that as well. I hope this helps you

Please login or register to post a reply.