Ehlers Danlos Syndrome, MCAS, POTS, and MALS

Posted by carolinebrown1995 @carolinebrown1995, Oct 14, 2021

Hello,
I am getting pretty frustrated with the health system. I live in the Minneapolis area and drive down to Rochester frequently. When I went down to Mayo back in 2017 I met with genetics and he diagnosed me with hyper mobile EDS, and now I think I meet more of the criteria for classical EDS but no one at mayo will do the genetic testing for me! I was down at mayo this week and I brought up testing for MCAS and MALS and I once again was told we can’t do testing because we don’t have anyone who specializes in those things. My stomach is pretty messed up I have mild gastroparesis take lots of zofran. I am hoping to get iv zofran to use with my port. If anyone has any suggestion for gastroparesis that would be great also! I also have pots and have a port and want to get either in home infusions or I’ll go to a clinic. If anyone has thoughts about how to get fluids that would be great. I also got referred to the POTS clinic but I was told by the doctor the POTS clinic doesn’t so IV fluids. Also joint pain is pretty bad and if anyone has suggestions for that also. Wondering if anyone has been to the mayo EDS clinic in Jacksonville? And how was it?

Interested in more discussions like this? Go to the Bones, Joints & Muscles Support Group.

@gpowr23

Hi Colleen,
Thanks for the links.
No, I'm actually in the Boston area.
I'm in the process of applying for surgery with Dr. Fogelson, a 2nd spine surgery, the first one was in Jan. 2023.
My recovery may have been affected by some sort of "connective tissue disorder"- I had genetic testing about 10 years ago- when there wasn't yet a test for hEDS.

Jump to this post

At the risk of taking this discussion off-topic, I want to introduce you to @jenniferhunter, a fellow patient of Dr. Fogelson.

Jennifer, can you suggest a discussion in the Spine Health group to continue the discussion with @gpowr23? I don't want to detract from the original topic of this discussion on EDS.

@gpowr, there are EDS specialists at Mayo Clinic in Rochester should you wish to talk with your Mayo care team about a referral.

REPLY
@colleenyoung

At the risk of taking this discussion off-topic, I want to introduce you to @jenniferhunter, a fellow patient of Dr. Fogelson.

Jennifer, can you suggest a discussion in the Spine Health group to continue the discussion with @gpowr23? I don't want to detract from the original topic of this discussion on EDS.

@gpowr, there are EDS specialists at Mayo Clinic in Rochester should you wish to talk with your Mayo care team about a referral.

Jump to this post

@colleenyoung @gpowr23, Gail, and I have been communicating because of this discussion about scoliosis and also privately because of her experience after an adverse result of a big scoliosis surgery and she didn't want to cause alarm to other patients contemplating surgery. She is seeking another opinion for Proximal Junction Kyphosis where kyphosis with forward bending happens at the top of an instrumented fusion.

Spine Health - "How do you manage the effect of Kyphosis and Scoliosis?"
https://connect.mayoclinic.org/discussion/kyphosisscoliosis-effects/

We also have these 3 discussions about scoliosis in Spine Health:

Scoliosis
https://connect.mayoclinic.org/discussion/scoliosis-3/

Spine surgery for scoliosis
https://connect.mayoclinic.org/discussion/spine-surgery-for-scoliosis/

Severe scoliosis
https://connect.mayoclinic.org/discussion/severe-scoliosis-1/

REPLY
@gpowr23

Hi Colleen,
Thanks for the links.
No, I'm actually in the Boston area.
I'm in the process of applying for surgery with Dr. Fogelson, a 2nd spine surgery, the first one was in Jan. 2023.
My recovery may have been affected by some sort of "connective tissue disorder"- I had genetic testing about 10 years ago- when there wasn't yet a test for hEDS.

Jump to this post

Hi @gpowr23- I hope the other links and moderators/volunteers are helpful and it's great to see them jump in to help point you forward 🙂

You may be aware of this, but just wanted to say there isn't a genetic test for hEDS. It's the only form of EDS that doesn't have a genetic test. Instead, there are diagnostic criteria: https://www.ehlers-danlos.com/wp-content/uploads/2017/05/hEDS-Dx-Criteria-checklist-1.pdf

In theory, any physician (a PT actually did my first one, but I don't think they're able to make that type of diagnosis) can review it, but at least in my experience most providers don't consider themselves to have enough experience to do so with authority. But if your care team at Rochester thinks a connective tissue disorder like hEDS or HSD might be impacting your recovery, maybe it would be worth asking for a consult with one of the EDS specialists there?

Turns out, I also have scoliosis and had a spinal fusion. It's rough. I'm wishing you all the best with your recovery.

REPLY
Please sign in or register to post a reply.