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

Posted by herder42 @herder42, Jul 11, 2025

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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helendances | @helendances | Jul 16, 2025

For the stomach issues, perhaps see if you can get into a gastroenterologist. An academic center like Mayo or a university could be a good option for any of the specialties.

Prepare for the appointment. Collect relevant information. Have your daughter keep a symptom log, describe the impact of the symptoms (how they affect her daily life), collect family history information. Try writing down your questions ahead of time. I find this pain scale helpful because it includes descriptions (https://myhealth.alberta.ca/Health/pages/conditions.aspx;). I bring a printout with me to doctors' appointments. Sharing it helps me establish a common framework with the doctors.

If you are in the US and if your means allow, perhaps order some blood tests for your daughter on your own through LabCorp or QuestDiagnostics. Here are some resources from LabCorp (simply because I used them myself). I started with Rheumatoid Arthritis as a topic because many of these tests will overlap with "related" diseases. This page lists several relevant tests: Our Guide to RA testing: Rheumatoid Arthritis https://www.labcorp.com/treatment-areas/rheumatology/conditions/rheumatoid-arthritis

PS: There is a neuro-gastroenterologist on Instagram (https://www.instagram.com/drzacspiritos/) who talks about some of this. His content seems sound.

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ggr | @ggr | Jul 16, 2025
In reply to @helendances "For the stomach issues, perhaps see if you can get into a gastroenterologist. An academic center..." + (show)
Profile picture for helendances @helendances

For the stomach issues, perhaps see if you can get into a gastroenterologist. An academic center like Mayo or a university could be a good option for any of the specialties.

Prepare for the appointment. Collect relevant information. Have your daughter keep a symptom log, describe the impact of the symptoms (how they affect her daily life), collect family history information. Try writing down your questions ahead of time. I find this pain scale helpful because it includes descriptions (https://myhealth.alberta.ca/Health/pages/conditions.aspx;). I bring a printout with me to doctors' appointments. Sharing it helps me establish a common framework with the doctors.

If you are in the US and if your means allow, perhaps order some blood tests for your daughter on your own through LabCorp or QuestDiagnostics. Here are some resources from LabCorp (simply because I used them myself). I started with Rheumatoid Arthritis as a topic because many of these tests will overlap with "related" diseases. This page lists several relevant tests: Our Guide to RA testing: Rheumatoid Arthritis https://www.labcorp.com/treatment-areas/rheumatology/conditions/rheumatoid-arthritis

PS: There is a neuro-gastroenterologist on Instagram (https://www.instagram.com/drzacspiritos/) who talks about some of this. His content seems sound.

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A neurogastro dr sounds like a good try. He should be able to say if he will diagnosis and treat mast cells activation. My daughter was diagnosed by a neurologist and referred to him by a gastroenterologist.

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Becky, Volunteer Mentor | @becsbuddy | Jul 16, 2025
In reply to @ggr "See if you can find a doctor who treats mast cell activation. It is connected to..." + (show)
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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.

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@herder42 I like @johnbishop ’s idea of going to a larger , more comprehensive medical center. You might also try GARD- genetic and rare disease organization. You can call them and ask for name of doctor who specializes in rare diseases. They keep a list when possible.
https://rarediseases.info.nih.gov/.
What do you think you could do in the next 10 days?

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subsun65 | @subsun65 | Jul 20, 2025

That’s very worrisome!!
I have cuts, fissures on my vaginal and annus area. I suffer from this for about 6-7 years. No doctor has been able to help. A friend suggested to avoid gluten (a blood test showed no signs of celiac disease). I stoped eating gluten and the cuts were gone.
They came back - I had eaten a large farmers market tomato. I researched tomatoes - they are nightshade vegetables. When I avoid nightshade vegetables and gluten I’m without cuts. The nightshade vegetables contain a natural pesticide to keep insects away, some people develop a sensitivity against that poison (Solanin, Tomatin etc). Solanin is also in small amounts in other fruits (blueberries) although they aren’t nightshades. Some people with rheumatoid arthritis feel worst when eating tomatoes for example.
I also believe that too many chemicals in our food (flavor enhancers etc) cause skin issues.
I also felt fatigue kind of symptoms (I usually have a lot of energy … all my life) - since I’ve avoided gluten, I’m back to my normal energy.
Your daughter could try that. They say you have to stay gluten free for 6 weeks to get it out of your body. I felt it faster than that.
Good luck!!

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