Undiagnosed Autoimmune Disease

@dstone501957 Welcome to the support group for autoimmune diseases! I hope you’ll hear from members before too long. The undiagnosed program sounds very intriguing! Be sure to let us know if you are accepted!

I have 2 add to immune diseases and I have struggled for years. Severe environmental and food allergies, anaphylactic reactions, chronic hives, joint pain all over, 5 fractures in 4 yrs, asthma. Been to multiple allergist immunologist and got no answers other than your case is too complicated for them . I just went to Barnes Jewish Hospital/Washington and seen a an allergist/immunologist, and she diagnosed me with mass cell activation syndrome And she is recommending Xolair injections. She thinks the injections will calm down my cells so they’re not so reactive to any everything I put in my mouth, causing the anaphylactic reactions etc, plus hopefully help reduce inflammation in my body and help my asthma. Just waiting to see if insurance approves the Xolair injections🙏

I was just reading through BJC/Wash-U find a doctor searching on immunologist. I recall seeing a female doctor who listed mass cell activation. I googled it to see what it was. Not related to my issue though.
I have been dealing with an undiagnosed autoimmune immune disease for over two years .Actually going down to Big Barnes tomorrow for a lidocaine infusion for pain. This is second one, first had little impact.

I hope you can find a Dr that can help you!
I have 2 add to immune diseases and I have struggled for years.Pemphigus Foleausus (allergic to my own skin,) environmental and food allergies, anaphylactic reactions, chronic hives, joint pain all over, 5 fractures in 4 yrs, asthma. Been to multiple allergist immunologist and got no answers other than your case is too complicated for them . I just went to Barnes Jewish Hospital/Washington and seen a an allergist/immunologist, and she diagnosed me with mass cell activation syndrome And she is recommending Xolair injections. She thinks the injections will calm down my cells so they’re not so reactive to any everything I put in my mouth, causing the anaphylactic reactions etc, plus hopefully help reduce inflammation in my body and help my asthma. Just waiting to see if insurance approves the Xolair injections🙏
I take zyrtec 2 x a day, Sudafed 12 hr,
Flonase, nasal spray, Atrovent nasal spray, montelukast, Dulera inhaler, Pepcid, natural meds from holistic Dr to help calm immune system and Mast cell activation ( he has helped me so much)
Anyone have any suggestions?

@dstone501957
Have you had a small fiber neuropathy skin punch biopsy to officially diagnose small fiber neuropathy? Do you have any abnormal results in your bloodwork? Have you seen a ENT and endocrinologist in addition to your neurologist? What other specialists have you seen and what testing have you had to get to the root cause of your burning and chills?

@dstone501957
Another thought is neurological impact due to Covid shots or infection that may be causing your symptoms. Did you get the Covid shots or have the Covid infection?

I wish I had known about the undiagnosed autoimmune group!
From Long Covid I developed ET, Essential Thrombocytosis, a chronic leukemia. It was easy to diagnose from 1 million + platelet count. Hydrea brought my numbers down but for 2 years I kept saying I wasn’t well. Finally diagnosed with POTS which is not diagnosed by labwork, but by symptoms. Each prescribed med made me sicker - Fludrocortisone and Midrodine. Hope to next try LDN - low dose naltrexone and maybe a vagus nerve stimulator.

@fessenbeck65 my daughter takes Xolair injections and she is doing much better.

Yes, on Covid shots up through last fall. I may had had the covid infection in March 2023, it was too late to test for it when I went to Urgent care. I did have skin punch "SYN-One" through Life Data Science. The Neurologist staff sent the skin samples in an expired fixative solution; the lab voided it. Took almost a year to get the repeat test, received results on May 27, Neurologist had sat on the report since April 29. I asked an admin assistant to place it in the portal. The Neurologist never has contacted me to review the results, everything appeared normal though.

Unrelated I had Cervical spine surgery in November 2024, the Orthopedic surgeon prior to the surgery noted I had a paralyzed left vocal cord. Recovery has not gone well.

I have seen two specialized ENTs referred to as Neurotologist, neither made any attempt, I had a pain doctor do right medial branch ablation, it did not help either. I also saw a Rheumatologist, she was a NP with limited experience.

In 2023, I had an elevated ANA 1:320 and FGFR3 7,500 (normal value 3,000). Repeat test nearly a year later ANA turned negative and FGFR3 decreased to 3,300.

@dstone501957
If your skin punch biopsy came back negative, you may not have small fiber neuropathy. That is the gold standard test. Mine came back with severe small fiber damage.

I also had cervical spine surgery in 2022 (ACDF C5-C6) and 2025 (ACDF C6-C7) which caused daily headaches, contributed to hearing loss/tinnitus, facial/lip burning, and many symptoms below my neck. Did you have any vocal cord issues before your cervical spine surgery or did they injure your vocal cords during surgery? My surgeon sent me to an ENT to get a vocal cord baseline before surgery for my second ACDF surgery since I also had thyroid surgery (2 neck surgeries prior). I have a follow-up with the ENT next month but it doesn’t seem like I have any changes.

What was the purpose of the nerve ablation and what was expected in helping to reduce symptoms? Have you had your thyroid checked with bloodwork panel (TSH, T3, T4, TPO) and neck ultrasound? Do you have any nodules in your thyroid or swollen lymph nodes pressing on nerves? Thyroid issues can affect sensitivity to temperatures.