open-minded approach to investigate underrecognized or rare causes

Posted by stephiebush @stephiebush, 5 days ago

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.

Lori, Volunteer Mentor | @loribmt | 4 days ago

Hi @stephiebush You certainly have a complex case which will take some serious consideration. Open-minded, collaborative care has Mayo Clinic written all over it.
If you’d like to request an appointment at Mayo Clinic here is a link to their main page where you can start the process:
http://mayocl.in/1mtmR63
For your convenience there are 3 campuses from which to choose.
Rochester, MN Phoenix, AZ Jacksonville, FL

Have you been working through a large, teaching hospital or clinic?

stephiebush | @stephiebush | 4 days ago

I am now at USA Mitchel Cancer center in Mobile, Al. I have an 8 year old and I can’t travel for long periods of time.

Lori, Volunteer Mentor | @loribmt | 4 days ago

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

Hi Stephie. This has to be incredibly frustrating for you and I sure hope you’re able to get some answers soon.

If you’re not able to travel to a Mayo Campus, there are number of health facilities in the Mayo Clinic Care Network and hopefully one may be closer for you than Mayo itself. The medical facilities in this network meet the standard for quality of care set about by Mayo Clinic.

Here’s a link to the map of clinics affiliated with the program:
https://www.mayoclinic.org/about-mayo-clinic/care-network/network-members
I know it can be inconvenient and costly to travel. But when you have a complicated medical case, where you’ve exhausted local options in an effort to find treatment or at least a firm diagnosis, it might be worth considering a trip to Mayo. The closest to you looks like Jacksonville.
Would you be able to have someone go with you to watch your son if you traveled?

chefd | @chefd | 3 days ago

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

Good Day Stephiebush, I would highly recommend that you make a call to Mayo.; Then have all your medial records sent to the doctor or department for them for review and then make every effort you possibly can to meet with them. I travel from Charlotte, NC to Jacksonville Florida and do not regret for one moment that I do. These are the finest doctors, nurses and staff from around the world that are there to really help you! They are the ones that write the papers that other doctors read and study. You deserve the very best as does your 8yr old child not seeing you suffer. God Bless and give you all you need in order to heal. Daniel

stephiebush | @stephiebush | 3 days ago

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

Thank you so much. I’m going to try to work on getting someone to stay with her so I can hopefully see someone there.

wesleym | @wesleym | 3 days ago

Mayo is state of the art. But a number of other places are also state of the art. For multiple reasons, it's pretty meaningless to say that any one of them stands out for all purposes. First of all, "cancer" isn't one disease. It's a collection of hundreds of distinct diseases characterized by uncontrolled cellular growth with the potential to spread. "Blood cancer" itself - the subject of this group - consists of different diseases. Lots of institutions conduct clinical trials on diagnosis and treatment of various cancers, all of which can result in "papers that other doctors read and study". Lots of places have physicians just as able as those at Mayo. Large teaching institutions have the advantage of internal cross-pollination - the ability of one physician to easily consult with others in the same or related fields (I love the phrase "tumor board"). That's an obvious plus.

So does it make sense for someone with the diseases discussed here to seek out a large teaching institution with group(s) that specialize in blood cancers? Sure. Mayo in particular? Yes, if you live near Rochester, Jacksonville or Phoenix - or if you live somewhere that doesn't have convenient access of one of those large teaching institutions with group(s) that specialize in blood cancers - Mayo should surely be in the differential of institutions. Otherwise, there are advantages - medical as well as non-medical - to being treated close to home.

cheryl46 | @cheryl46 | 16 hours ago

Vitamin B12/B3 (Niacin) checked?

drawlings0803 | @drawlings0803 | 1 hour ago

In reply to @wesleym "Mayo is state of the art. But a number of other places are also state of..." + (show)

I live in Houston near the Texas Medical Center. As you may know, TMC is home to MD Anderson, Methodist, Baylor College of Medicine, etc.
When I was first diagnosed with MDS last March, I asked my Dr at the time if I should go to MDA. She said ‘well you can call them, but I have someone who can see you much sooner at Methodist.’ So I went with
her recommendation & began my treatment with a hematologist at Methodist. I was seen the same week & am happy with my Dr.
I did call MDA to try & get a second opinion simply bc I felt pressure to do so. Over a month went by & I never heard back from them. MDA is an excellent facility. But it is very large, & sometimes you don’t always have the time to wait around for an appointment while they try & figure things out. I have a friend who works there who said she could ‘help me get in’. But by that time, I’d already started treatment with my Methodist team.
I feel God has guided me to where I need to be.

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