What is wrong and how do I find a Dr to diagnose it?

Posted by herder42 @herder42, Jul 11 6:00am

My daughter is 19. She has so many issues with her body and nobody will diagnose/help. She shows signs of fibromyalgia, ehlers-danlos syndrome, or some other auto-immune disease. She hurts all the time. She’s always tired, has stomach issues, doesn’t sleep well and on and on and on….adult rheumatologists won’t see her, pediatric rheumatologists won’t see her, her regular dr is at a loss, she’s done PT, seen a physistrist—all to no avail. She’s becoming mentally exhausted and depressed as a result of the continuous issues and lack of help. Any suggestions?

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covidstinks2023 | @covidstinks2023 | Jul 11 7:43am

herder42, I would take her to an Integrative Medicine doctor (out of pocket0 and get his/her take on this. He/she can diagnose if it's fibromyalgia or ehlers-danlos syndrome. A lot of times, Fibromyalgia gets missed to be honest.
Is there another primary pediatric doctor she could see for a 2nd opinion?

Praying for answers and peace for you & her.

John, Volunteer Mentor | @johnbishop | Jul 11 8:28am

Hello @herder42, I would like to add my welcome to Connect along with @covidstinks2023 and others. I know it must be awful for both you and your daughter not being able to find a diagnosis and treatment that provides relief for her symptoms. There is a TED talk by Jennifer Brea who became progressively ill with myalgic encephalomyelitis that might be helpful.
-- What happens when you have a disease doctors can’t diagnose: https://www.ted.com/talks/jen_brea_what_happens_when_you_have_a_disease_doctors_can_t_diagnose

There are also quite a few other discussions on the ME/CFS condition if it sounds similar to the symptoms your daughter is experiencing - https://connect.mayoclinic.org/search/discussions/?search=ME/CFS.

It sounds like she has seen a lot of specialists without much help. Have you considered seeking help at a teaching hospital or major health facility like Mayo Clinic?

tsharkey01 | @tsharkey01 | Jul 11 10:09am

Have they considered Polymyalgia Rheumatica? I had many physical symptoms and was misdiagnosed to finally find a doctor that correctly diagnosed me as having Pmr. The treatment is steroids and it makes a huge improvement in life with pmr.
Blood tests should show high protein and sed rates which is indicative of inflammation in the body.

yesibeleive | @yesibeleive | Jul 11 4:06pm

What??
No rheumatologist will see her??
Have her see an Endocrinologist.

I would not get off the phone until I found out.
A CBC should give you a hint about something.

diverdown1 | @diverdown1 | Jul 12 7:22am

Look at the group Long COVID on this site as well as other sites on the internet. She may have long COVID. It presents with a multitude of symptoms of many other autoimmune diseases. Chronic fatigue is probably the most reported but there are many others.

yesibeleive | @yesibeleive | Jul 12 5:20pm

I'm sorry she is going through this. I don't understand why you say a rhuematologist won't see her. Did they test her for lupus?
Fibromyalgia? Rheumatoid Arthritis? Chronic Fatigue Syndrome?
I would love an update from you aboutHer

researchmaven | @researchmaven | Jul 13 9:34am

herder 42nd -- It is tough to see one's daughter struggle with unknown issues. The only thing I can think of is a doctor that solved her own fibromyagia issues. Dr. Margaret Gennaro in Fairfax, VA. You can find her on the web. This MD has training as a pediatrician. Also, the website Castle and Connolly listed MD-referred doctors that they research for their hopefully superior talents. I rely on it to find my MDs.

sungaltoo | @sungaltoo | Jul 13 10:59am

See if you can get an ANA blood test if you haven’t yet, and also maybe for Myastenia Gravis. Visit their website and see if some of the symptoms match. I had a lot of similar symptoms, was misdiagnosed and finally a blood test confirmed it.
Also find another doctor if you can out of your area for some tests. An MRI should confirm MS. I’m not sure what confirms MD. And I hate to say it but my son went through a lot of growing pains and that’s all it was

anitap67 | @anitap67 | Jul 15 11:41am

I would pursue an experienced chiropractor who specializes in nutrient response testing, and I would have her see a Physical Therapist trained through the postural restoration institute. These would be good starts.

ggr | @ggr | Jul 16 9:14am

See if you can find a doctor who treats mast cell activation. It is connected to Ehlers Danlos and POTS. They are known as the "trifecta". My daughter has all three, but fortunately the mast cell is the one that caused her worst symptoms. She was finally diagnosed about 6 or 7 years ago at Mayo Scottsdale. It has been a recognized diagnosis for under 20 years. Many doctors do not know about it, especially gastro docs. My daughter finally had an allergist who made it one of her specialties. Her main symptom was gut pain. She had recurring Sibo until she was treated for mast cell. Looking back at her childhood, we believe she was born with mast cell. There used to be an active site on FB, but I think the administrator stopped it. However, it may still be up and there was a list of physicians by state who were seeing patients. Incidentally, the doctor at the original Mayo did not believe it was a diagnosis. Don't know if that is still the case. By chance are you in Virginia? That is where her doctor is. If you have any questions, I will be happy to pass along any info I have. I understand what you are going through.