The last time I asked here to help me find a POTS specialist you guys helped me and I got diagnosed with POTS and I’m now being treated. So I’m back looking for a doctor who can help me figure out if I might have an autoimmune disease. I can’t even begin to think which one I might have but I’ve had autoimmune reactions my whole life notably with severe hives being the main issue of my symptoms. My PCP can’t refer me to a rheumatologist because she ran a very basic rheumatology blood panel on me and it didn’t show anything.
I’m also seeking a geneticist or someone who will help me figure out if I have a connective tissue disorder or EDS. Or something else. I need doctors covered by state insurance. Let me know what you guys think and thanks for helping me as much as you all already have!
Geneticists in the Twin Cities won't touch EDS w a ten foot pole unfortunately. Both Gillettes and U of M only take children.
Was diagnosed by Dr. Cruz in Family Medicine at Allina (she has mEDS) but she dropped all her patients due to her own health issues.
(Whatever you do, don't see Dr. Dorff, she's cash pay only and doesn't follow the diagnostic criteria)
Hmm, disagree here actually. I’m 33 and went to the M Health Fairview Explorer Pediatric Specialty Clinic for genetics and they were very interested in doing a full EDS work up. They diagnosed me with hEDS in office and offered to do the genetic panel, but my insurance doesn’t do prior authorizations so I decided to wait until I had the cash, just in case. My providers there were Christina Dailey and Kaitlin Weisshappel.
u/Zihna_wiyon — As someone with POTS, hEDS, and a few other “cluster” things that tend to meld together with these diagnoses, look at MCAS. That would typically be diagnosed with the help of an allergist rather than a rheumatologist.
Yes I’m on full treatment for MCAS thank you! Thank you i do have an appt scheduled with a dr at m health Fairview. They seem to have lots of doctors who diagnose EDS, which i wasn’t seeing like a month ago?? So idk. But I’m scheduled! Thank you.
Good luck!
Huh! You're the first one I've heard of. Did you have a history of organ issues/tears? I'm in the big MN FB group and there's an email/template from Fairview genetics stating they won't see people for hEDS evaluations that gets sent pretty often. (I personally got denied from Gillettes and not U of M myself). They'll only see you if you have a vascular event or other organ fragility according to the template I've seen.
Nope. Although to be totally honest, I didn’t go to them to seek EDS diagnosis; I went for cancer-related genetic screening (had aggressive breast cancer at 28 and enough other anomalies to consider PTEN mutations). They just heard enough during the whole family-and-personal-history spiel that they decided to Beighton and diagnose me on the spot.
My husband, on the other hand, is far more bendy, velvety, and has a lot of the symptoms of classic EDS with vascular anomalies (VSD and open heart surgery, likely will need a pacemaker before 35, etc.). He’s on a waitlist to see someone for an official EDS diagnosis and the earliest they’ll be able to squeeze him in is in May.
It might not be that they’re totally unwilling, but rather that they’re low on specialists and totally swamped so they’re allocating staff to more urgent cases. 🤷🏼♀️
Is there anywhere else to get it diagnosed (or ruled out)? In my home state I was told only geneticists would address it, but I didn’t get around to seeing anyone before I had to leave. If geneticists in the Twin Cities won’t see patients to check for EDS, then do you know who does?
You can sometimes find a rheumatologist, family med, or orthopedist to diagnose if they feel comfortable enough (such as Dr. Cruz) - the genetic testing through Invitae or GeneDX can be ordered by any MD
I've heard U of M will sometimes take people who have had a vascular event happen (to rule out vEDS) but otherwise they stick to kids
Avery Tucker (family med) is a name I've heard start to float around, she's at Fairview and does Invitae like Dr. Cruz apparently
It's just really unfortunate and I was lucky to get into Dr. Cruz when I did 😭 there really is a huge lack of care in this area
Rheumatology tests for and manages those disorders. Just look for a rheumatology clinic.
Ok thanks some autoimmune disorders are diagnosed by neurologists though rheumatology can only do some.
That’s very rare, apart from things like NMDA meningitis or MS - almost all will be diagnosed through rheumatology. I’m a doc at the U, refer plenty of folks to rheum.
My pcp won’t refer me though
Depending on your insurance (even some state plans), you can self refer. Double check if you’re able to.
Ty I’ll check into this i really appreciate it
Why won’t your pcp refer you?
She said she can’t because a basic rheumatology blood panel for me came back with nothing.
That’s bs. I didn’t have those markers but in the end I was diagnosed by a rheumy. Keep fighting even if you have to switch. I was diagnosed late because of my pcp dragging their feet. I don’t want anyone else to go through that.
I’m gonna try some other doctors and try some internal medicine doctors. Idk what to do so I’m just making appts with all people possible who i think can help me. I’m not giving up.
The doc on this thread is correct that you occasionally don’t need a referral depending upon your insurance. I needed one with my particular insurance when I was first experiencing symptoms. Call your insurance to find out for sure. It should be a quick phone call.
I’ve worked professionally with rheumatologists Dr. Tawatchai Paisansinsup (goes by Dr. Kee) and Dr. Luke Desilet in the past. They are who I would see if I wasn’t so weird about seeing docs I’ve worked with.
I would still switch your pcp. You need a supportive doc.
Yeah I don’t even know if she’s non supportive or if she is just really uneducated about what i need because she constantly is saying she has no idea about anything i am dealing with. But i did book an appt with a new internal med doctor. I have lots of great specialists and stuff it’s a lot to manage by myself tho
There is such a thing as sero negative rheumatoid arthritis. If you have other symptoms, have your pcp to refer you to a rheumatologist.
Thank you 🙏🏼
I have that. My rheumatologist is Kurt Zimmerman and he’s wonderful. Willing to say, “I don’t know.”
Thank you!
Hello--may I ask which POTS specialist you went to?
It is, unfortunately, very hard to find an autoimmune specialist--as far as I know. Everything ends up in different buckets. For the hives, I recommend the allergist Dr. Kelkar at Allina--he was able to diagnose a histamine intolerance for me when the other allergists threw up their hands. For EDS, that's orthopedics. I don't have anyone to recommend but I hope someone does.
Dr Adam loavenbruck at HCMC
Definitely could be MCAS or Systemic Mastocytosis. Allergy/Immunology or Hematology/Oncology would be the best bet. There are blood tests for different mediators along with urinalysis. Ultimately the gold standard for finding Mastocytosis is BMB. Chronic hives is definitely a red flag for either of those conditions so I would reach out to your primary and see if they will refer you to an allergist/immunologist that treats either Mastocytosis or MCAS. Good luck.
They won’t diagnose me with MCAS and say they don’t think i have masticytosis so no need to do the BMB. I am being treated for MCAS even though they won’t diagnose me.
Well, I’m sorry your provider isn’t listening to you. Sounds like you need a new PCP that will advocate to find out what is going on. TMS has support groups on zoom for both MCAS and Mastocytosis. It is common for MCAS patients to exhibit co morbidities with EDS/POTS/Dysautonomia and you can have both Mastocytosis and MCAS. I’m diagnosed with cutaneous Masto and systemic Masto and my current hematologist suspects MCAS as well but MCAS is kind of a taboo disorder with some doctors. Some don’t believe it exists which makes it a lot harder to get diagnosed. The treatment for both is typically similar until you get into the chemotherapy and or biotherapy. Lots of H1 and H2 blockers along with Mast cell stabilizers along with knowing your triggers and staying away from them. Low histamine diets are also common although not everyone has food sensitivity.
No, it’s my immunologist / allergists. I have not ever had high tryptase which is in diagnostic criteria. They did advocate for me to go to Mayo Clinic and I did then the doctor at Mayo Clinic threw up her hands and said my current doctors know more than she does and she’s extremely uneducated compared to them. So idk what to do. She offered literally no advice or help.
You can have normal tryptase and still have Mastocytosis. The WHO criteria isn’t an all or nothing type list. You can have some criteria yet other things don’t match. You also can have high tryptase and not have Mastocytosis, example would be HATS (hereditary alpha tryptasemia)
They think I have HATS and are testing me for that. I’m waiting for the results!
Yeah I went to Mayo for 10+ years and they were the ones to originally diagnose me systemic Masto so I know all about them. I am now currently at Minnesota Oncology and I see Dr. Lemma. He got me on a bio therapy that’s helped some and there are more therapy’s on the horizon for both MCAS and Mastocytosis.
I am on xolair high dose h1 and h2 blockers, singulair. So I’m being treated. I don’t know if it’s helping? I’m sure I can ask for the BMB. I’m sure they’ll do it now that I’ve been sick for a year now. I see John Sweet at HCMC. He’s good just super busy impossible to see.
That is good that you are getting some treatment. Apart from some newer type treatments (Kinases inhibitors) sounds like you are doing all the things. I see my hematologist every 6 months for check ups and my pcp is yearly.
Yeah I’m also on cromolyn sodium and low dose naltrexone and I’m going to ask at my next appt if they think rhapsidio could be beneficial to me.
Oh good! Yeah chromolyn was a big help for me and GI issues. I still get flares but it definitely helps the severity. Remibrutinib is one of the drugs I was mentioning about (TKI,BKI). Suppose to be helpful for MCAS patients and it’s oral so no injections. I’m on Avipritinib (Avykit). I’m also going to talk to him about possibly adding either Rhapsido or the Bezuclastinib. Sounds like you are informed about all the new treatments so that’s good as well.
How do you feel the LDN helps? I’ve heard a few people say it helps inflammation for them, particularly bone pain.
I also have cervical dystonia and POTS and i notice an immediate difference in inflammation if i don’t take it. I get headaches and back of my neck feels hot and inflamed when i miss my dose. It also makes drinking totally pointless to me so like- i don’t drink any alcohol anymore not that i really did to begin with but that on top of it all helps me a lot.