11/22/2025
Long, but important updates:
I had my second visit with Dr. Maitland at MUSC. She is the clinical director of the new EDS treatment clinic they have started, and she is amazing. She specializes in immunology and rheumatology, with a focus on EDS patients, because her family member has it. She is absolutely the smartest doctor I've ever seen, and spent an hour with us at both visits. I feel so blessed to have gotten in with her this early, because the wait-list is over six months long now and quickly growing. There just aren't enough doctors knowledgeable in the field, and patients are desperate to get in.
I got the results of the massive testing she had done after the first visit. 28 different blood tests, most of which LabCorp had never heard of because they are so rare.
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DIAGNOSIS:
Hypogammaglobulinemia (a type of Primary Immune Disorder, or PID), with secondary Mast Cell disorder.
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WHAT?
Hypogammaglobulinemia means low levels of immunoglobulins (antibodies) in the blood.
Antibodies are proteins your immune system uses to fight infections—especially bacterial and some viral infections.
Common symptoms are recurring:
•Sinus infections (chronic or recurring)
•Ear infections
•Bronchitis or pneumonia
•Throat infections
•GI infections (stomach bugs, chronic diarrhea)
•Skin infections
•Mast cell/histamine/"allergy" issues
-and:
•Infections lasting longer than they should
•Poor healing
•Unusually severe infections from “normal” germs
•Feeling run-down or inflamed a lot of the time
•Vaccine response issues
•Increased pain levels from inflammation
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WHY?
hEDS (connective tissue disorder)
↓
Weak connective tissue in body barriers
(sinuses, airways, gut lining, skin, joints)
↓
More infections get in / infections linger
↓
Chronic inflammation over time
↓
Mast cells activate more → MCAS-like issues
↓
Immune system becomes dysregulated
↓
Antibodies may drop (IgG, IgA, IgM or IgG subclasses)
↓
Poor vaccine responses + frequent sinus/lung infections
↓
Hypogammaglobulinemia or CVID-like pattern
This does not mean EDS causes primary immune deficiency—
but the terrain created by hEDS makes immune issues much more likely to show up.
*It is estimated that 70% of hEDS patients have a form of PID, but it is severely under-diagnosed because of the lack of immunologists per capita
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TREATMENT PLAN:
A few more tests, some changes in medications, and then I'll be starting IVIG, which is an infusion of antibodies that come from plasma donors. I will need this once per month (2-4 hours per treatment) for a minimum of two years. I can go to an infusion center, or have a nurse come to my house.
After that, ongoing testing will occur to see if/how often I will need it, possibly forever, but hopefully not.
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OTHER SUGGESTIONS FROM OUR VISIT:
•the body braid (a specialized full body aid for hypermobile people)
•pregnancy pillow for sleep
•Neuro-mag (supplement) for sleep
•Oxygen concentrator, daily use
•new nebulizer
•referral to gastroenterology
•Dupixent & Montelukast Rxs
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I also got three doctors referred to me by my EDS physical therapist for hip replacements, which will probably be in the near future. That is info I've been searching for, for a long time!
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Even though the diagnosis was not good to hear, we are so very thankful that we finally found a doctor who knows about all this rare stuff and what to test for.
If left untreated, it can lead to deadly infections, cardiac issues, and/or cancer (most commonly lymphoma). There is no cure, but at least we have a treatment plan.
I am so grateful for this clinic, and I look forward to seeing how they can grow and add new specialists, so that EDS patients can have comprehensive care in one place.
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As always, I am thankful to my husband for taking care of me, staying engaged in the process, staying positive, and being my person for 20 years.
I'm thankful to God that I've made it to 45, and have seen my children grow, and had a blessed life. I pray the Lord sees fit to give me many more.
This chaotic wheel of EDS misfortune
keeps turning, and is giving my zebra status a rarer statistic every year it seems 🤦🏻♀️
