Doctors can't decide on diagnosis

Posted by lillone43 @lillone43, Sep 28, 2017

Hello, I have been looking for a diagnosis since 2013. I was first diagnosed with Fibromyalgia, As the years went by I started getting new symptoms, All over body ache like when you have the flu, low grade fevers, Hands and feet swell, Lymph nods on my neck are always swollen, sores in my mouth, Chronic IBS, Joints are swollen in hands, shoulders, hips, ankles,I have horrible GERD, Foggy thinking, I forget simple things, I have Tested negative three times for ANA, doctors have talked about arthritis, lupus, Connective Tissue Disorder but no one will diagnose it's like they get right to that point and don't pull the trigger. i have seen 7 Family Medicine Dr., 4 Rheumatologists, 3 Neurologists, A Gastroenterologist , Etc....My niece was just diagnosed with Ehlers-Danlos Syndrome (EDS), I read it is hereditary and I myself have (Double Jointed) hyper extended limbs. I am getting worse and I can't seem to get any solid answers. I feel like I wanna give up. Any Advice?

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

John, Volunteer Mentor | @johnbishop | Sep 28, 2017

Hello @lillone43 - Welcome to Mayo Connect. I'm happy you found us. Connect is a good place to share your health concerns, ask questions and read what other Connect members with similar health issues are doing for treatments. I'm sorry you haven't been able to get any solid answers. I'm sure that can get you feeling like giving up. Don't do it! Posting on Connect is a good start and hopefully someone can provide information that will help. Here is a story that may help 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 - http://bit.ly/2nvf21H

I'm not sure if it is a possibility for you but Mayo Clinic is really good at diagnosing health issues that are hard to diagnose. If you would like to seek help from Mayo Clinic, please call one of our appointment offices. The contact information for Minnesota, Arizona and Florida can be found here http://mayocl.in/1mtmR63.

John

heidisue | @heidisue | Sep 28, 2017

Definitely don't give up. It takes a long time to figure out some conditions. I recently was diagnosed with EDS at age 59. Explains so much of life long chronic pain. I also have Celiac Disease and the symptoms you mentioned make me wonder whether you've been tested for that. Read about out and see what you think. My favorite website for learning about CD is csaceliacs.org. Good luck!

Kanaaz Pereira, Connect Moderator | @kanaazpereira | Sep 28, 2017

Hello @lillone43 and @heidisue,

Welcome to Connect. As John mentioned, we are so glad you've reached out to this community.
Heidisue, thank you for joining in with your words of support. I'd encourage you to view the Gastroenterology & GI Surgery Page on Mayo Clinic Connect, https://connect.mayoclinic.org/page/gastroenterology-and-gi-surgery/ which has a lot of information/videos/ studies about IBD and celiac disease.

Here are a few discussions that might also interest you:

– Connective tissue auto immune: https://connect.mayoclinic.org/discussion/connective-tissue-auto-immune/
– Undiagnosed auto immune disease: https://connect.mayoclinic.org/discussion/undiagnosed-auto-immune-disease/
– MCTD (Mixed Connective Tissue Disease): https://connect.mayoclinic.org/discussion/mctd-mixed-connective-tissue-disease/
@jewel8888 @luladavis @regeanna @faithandlove @jimmorris900 @judeeo @lisaann03 @wottone, and others have written about their experiences with various autoimmune disorders, and I hope they can share their insights with you.

I would like to introduce you to Connect members who have discussed Ehlers-Danlos Syndrome (EDS). Please meet @tabitha, @lisafl, @blossom2016 @Deedeerichards, and our Mentor @kariulrich. I also invite you to read this Mayo Clinic post about EDS too: https://newsnetwork.mayoclinic.org/discussion/mayo-clinic-q-and-a-ehlers-danlos-syndrome/

@lillone43, many fellow Connect members with autoimmune issues have touted the benefits of changing their diet; may I ask if you have tried doing that? I love your pets' names – very creative!

Kari Ulrich, Alumna Mentor | @kariulrich | Sep 28, 2017

@lillone43 nice to meet you and welcome! I have multiple diagnosis, including EDS. It was a long journey to get to that diagnosis and there are not many physicians that are familiar with the disease. My symptoms started in my early twenties with joint pain, I did not even realize I was hyper mobile until a researcher from NIH showed me. I had gone through a similar journey as you with rheumatologist, infectious disease (chronic EBV)...So much more. Don't give up just yet, is there any way that you can see your neice's doctor? There is several types of EDS, and some types have genetic testing available others the diagnosis is based on clinical presentation. This organization was very helpful to me when I was first diagnosed: http://www.ehlersdanlosnetwork.org The organization is run by patients and they do their very best to help, there focus is on funding research. Take one moment at a time, EDS and any connective tissue disease is complicated, hang in there!

peach414144 | @peach414144 | Sep 28, 2017

hello. peach here. seems one of my many immune problems is taking METHOTREXATE. my extremely bad anemia which is affecting the heart and etc., etc. was told to stop methotrexate which might help the anemia. however we know what the "catch 22" is when stopping the methotrexate there is more pain, more inflamation etc. dammed if you do and dammed if you don't. any suggestions??? will be appreciated. (methotrexate is for the rheumatoid and psoriatic arthritis). suggestions please?

lillone43 | @lillone43 | Sep 28, 2017

In reply to @johnbishop "Hello @lillone43 - Welcome to Mayo Connect. I'm happy you found us. Connect is a good..." + (show)

Two of the Dr. I saw are with the Mayo Clinic in Topeka, KS

lisabeans | @lisabeans | Oct 3, 2017

My cousin has EDS as well as fibro and a bunch of other things. A genealogist diagnosed her. Maybe try to get in with one.

kibwezi | @kibwezi | Oct 16, 2017

Has any doctor mentioned Sjogren's Syndrome? Do you have dry eyes or dry mouth? I have SS and I have the brain fog, possible IBS, sores in the mouth, GERD, fatigue, joint pain and the dryness. The dry mouth causes the mouth sores because the saliva doesn't have the proper balance to kill the germs in your mouth. Of course many Autoimmune diseases have overlapping symptoms and that is what makes a definite diagnosis so difficult. I was first diagnosed with Lupus and then it was changed to SS. There is no black and white way to diagnose. It is very frustrating.

kibwezi | @kibwezi | Oct 22, 2017

I was also going to ask about Sjogren's Syndrome. I have the sores in the mouth, GERD, possible IBS, joint pain, brain fog, dry eyes, and dry mouth and have been diagnosed with SS. The unknown is so frustrating but don't give up.

oldkarl | @oldkarl | Oct 22, 2017

In reply to @kibwezi "Has any doctor mentioned Sjogren's Syndrome? Do you have dry eyes or dry mouth? I have..." + (show)

@kibwezi Hi. One of the triggers of Sjogren's, and SICCA which is very close to Sjogren's, is some form of the Protein Deposit Disease, or Amyloidosis. Sjogren's and SICCA are actually just sets of symptoms, or syndrome, as you say. I suggest you have your Serum Free Light Chain and total daily output of protein checked. If your Bindings sFLC(c) is over 1.6 mg/deciliter, and/or your daily protein output is over 0.5 Grams per day, you are approaching the danger zone, and prepare to have treatment. In the meantime, look at ALNYLAM.com, Mayoclinic.org, and Amyloidosis foundation, and Wikipedia.com. The Wiki articles include a list of 28 disorders and deseases which have the Protein deposit disorder as part of their makeup. This includes Sjogren's, SICCA, Alzheimers, Parkinson's, Huntington's, etc. Read the stuff on various forms of Amyloidosis. There are over a thousand types.

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