open-minded approach to investigate underrecognized or rare causes

Posted by stephiebush @stephiebush, Jun 20 7:58am

I am a patient urgently seeking answers and support for a complex, unresolved medical picture since 2017. My history includes avascular necrosis (requiring multiple orthopedic surgeries), extensive spinal fusions, and persistent iron deficiency anemia that has not improved despite multiple rounds of IV iron therapy. I continue to experience chronic thoracic back and rib pain, intense itching across my shoulders and arms, and a blistering, painful rash on my lower back and buttocks. Vitamin D deficiency is also ongoing. Extensive evaluations across hematology, dermatology, gastroenterology, and rheumatology have yielded no clear diagnosis. Colonoscopy, endoscopy, abdominal CT, nuclear bone scan, and bone density testing have all been normal. Autoimmune panels are consistently negative. While lab values confirm iron deficiency, there remains no clear source of bleeding, inflammation, or malabsorption. I am asking for a collaborative, open-minded approach to investigate underrecognized or rare causes that may link these persistent and debilitating symptoms—and finally guide an effective path forward.
Presenting Concerns

• Persistent iron deficiency anemia despite multiple IV infusions
• Severe itching (arms, shoulders) and blistering rash (lower back)
• Thoracic back and rib pain, chronic
• Avascular necrosis (AVN) of both hips; history of multiple orthopedic surgeries
• Vitamin D deficiency

🧪 Key Lab Findings

• Iron: 35 mcg/dL
• Ferritin: 41 ng/mL
• Hgb: 10.2 g/dL | Hct: 32%
• RBC: 3.50 x10⁶/mcL | RDW: 15.9% | RDW-SD: 55.0 fl
• TIBC: 402 mcg/d
• Kappa/Lambda Ratio: 1.60 (normal)
• IgA: 313–379 mg/dL (high-normal)
• Erythropoietin: 22
• CRP: < 0.3 mg/dL | ESR: 26
• TSH: 1.67
• Vitamin D: 20.7 ng/mL
• Homocysteine: 9.3 mcmol/L

Autoimmune Panel: Entirely negative/normal: ANA, dsDNA, SSA/SSB, RNP, Smith, Scl-70, Jo-1, RF, anti-centromere, anti-chromatin, anticardiolipin, beta-2 glycoprotein, etc.

Immunoglobulins: No monoclonal proteins detected on SPEP/UPEP
Complement levels: C3 normal
Coag panel: Lupus anticoagulant, DRVVT—normal
GI Celiac screen: Negative (tTG IgA normal)

📋 Imaging & Procedures

• Colonoscopy & endoscopy: Normal
• Abdominal CT: Normal
• Nuclear bone scan: Normal
• Bone density scan: Normal
• Capsule endoscopy: insurance denied

🦴 Surgical & Medical History

• AVN with multiple hip surgeries (core decompressions, R hip replacement) L hip replacement being scheduled.
• Lumbar fusion: L2–S1 (2008, revised 2022)
• Cervical fusion: C2–T2 (2017, revised 2022)
• Iron infusions: Venofer (Dec 2024–Jan 2025), Ferumoxytol (May 2025)

Interested in more discussions like this? Go to the Blood Cancers & Disorders Support Group.

kdalda75 | @kndaustin71 | Jun 25 4:39pm

In reply to @chefd "Good Day Stephiebush, I would highly recommend that you make a call to Mayo.; Then have..." + (show)

A bit nosy but I'm surprised that being in NC that you were unable to access or not wanting to the Research Triangle......UNC, Duke, Chapel Hill. I traveled from MS to Duke for lung valve placements and would do it again. Was very impressed with the physician and the staff.

chefd | @chefd | Jun 25 6:49pm

Thank you for your thoughts. You are not being nosy. After looking into several options and getting recommendations from many doctors, friends and people I trust, I felt that Mayo offered the best options and success for my blood opportunity.
I sincerely apologize to anyone that took offense to my previous message as an insult or demeaning of their favorite facility or any other facility world wide. My personal experience at Mayo was simply amazing .
May God keep you healthy, strong and bless you and all you come in contact with.
Daniel

kit491903 | @kit491903 | Jun 26 7:32am

I cut and pasted some of your information into ChatGPT ( my question is there at the beginning) and here is their answer. https://chatgpt.com/c/685d3ab8-dc48-800a-8045-8530c25752e2
The last sentence asks if you need help drafting a letter to your doctor to discuss these findings. That would be the best idea to confirm with your healthcare provider that the AI evaluation has merit. To do that by Googling ChatGPT, you simply cut the entire answer and paste it into a new "chat". If you sign up to ChatGPT with your registration info , your queries and history will be saved . At the end it will ask what you want to do about asking your doctor questions and you simply reply with your request.

I hope this helps and take care.

stephiebush | @stephiebush | Jun 26 12:09pm

In reply to @cheryl46 "Vitamin B12/B3 (Niacin) checked?" + (show)

Yes. I am normally normal on this test. I have been low but I had food poisoning then and it was expected.

stephiebush | @stephiebush | Jun 26 12:11pm

In reply to @kndaustin71 "A bit nosy but I'm surprised that being in NC that you were unable to access..." + (show)

I am in Mobile Al. I am now at USA Mitchell Cancer Center.
I Recently changed from another oncologist that i did not have a great experience with.

stephiebush | @stephiebush | Jun 26 12:14pm

In reply to @kndaustin71 "What have the physicians that you have seen say about all this. Very complex medical presentation!" + (show)

They have continued to run tests to try figure out the cause. I have been tested for everything I think. The only thing I have not had is the bone marrow biopsy and PET scan but insurance has been denying that until everything else is ruled out or I die trying to rule it out.

kit491903 | @kit491903 | Jun 26 3:37pm

In reply to @stephiebush "I am now at USA Mitchel Cancer center in Mobile, Al. I have an 8 year..." + (show)

I have my doctor at Mayo, Jacksonville and I am able to do follow up appointments by Telemedicine in between in person visits. My blood is drawn at a local lab and electronically sent to the doctor. Then we meet by phone or on the computer to go over lab results and next steps.

That cycle may be a way for you to use the resources at Mayo Jacksonville and not have to travel 6 hours by car each way to be treated there. The link that was sent of Mayo affiliated clinics by Lori , Volunteer mentor , shows an affiliated location in Baton Rouge , 2 hours from Mobile. It is Baton Rogue Clinic AMC, another option to receive Mayo expertise closer to where you live. Which ever you choose ask them how they manage follow up care for out of town patients and how often an in person appointment is necessary.

If you are able to go to Mayo Jacksonville, I highly recommend it because as others have noted , Mayo has the highest level of research on blood diseases and publications and all other resources are available on the beautiful Mayo campus including hotels and restaurants.

My Mayo doctor explained that every case is discussed weekly in a round table with many other doctors and they collaborate on the treatment options to pursue when there is the need for a meeting of the minds. All specialties are available to them and the complicated nature of your case calls for seeking out a universal approach to reaching a cause of your symptoms or a diagnosis.

Good Luck

stephiebush | @stephiebush | Jun 26 6:12pm

In reply to @kit491903 "I cut and pasted some of your information into ChatGPT ( my question is there at..." + (show)

Thank you. I done this and sent it to my doctor!

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