Advice about pursuing genetic testing. EDS?

[GLH18]

Hello,

 

Curious if anyone else has been in my position (but I think I know the answer to that one). 

After a recently abnormal tilt table, I was diagnosed with having Orthostatic Intolerance. 7 yrs ago I had a cardiac ablation for my SVT, so we all are wondering had that not happened, would I also be experiencing more POTS like symptoms. I have gut motility issues now, diagnosed with IBS in 2002, food allergies and intolerances for the past 10 years, but got to a good point up until the last 6 mos or so. Due to the high reactivity in my bloodwork from gluten,  it was also presumed I may have celiac disease but could never be tested since I had cut it out 3 years prior. I should also add we have rampant autoimmune diseases in our family- Hashimoto’s, Diabetes, RA, Alopecia Areata....  but I have never been diagnosed with one.  My cortisol levels are low so going in to see an endocrinologist this month.

In 2017, I had a craniectomy and also a C-section both within a year of each other. I understand (1 year postpartum) why my ANS would be a little wonky from these two surgeries.

After further digging and piecing together some family history, I’m wondering what type of genetic disorder testing to pursue. Ehlers-Danlos keeps popping out but my cardiologist doesn’t feel I fit the mold. I’d say I am definitely in the hypermobile class. Both my sister and I, and now my niece, have    double-jointed elbows, hyper-extendable knees and wrists. I’ve managed to blow out 3 of my ribs from getting sick with a cough (maybe related, maybe not?). During pregnancy I was told I had Symphysis Pubis Dysfunction or SPD bc I could barely walk in my 2nd trimester. I had PROMM and our preterm baby at 32 weeks. Three months later, I had debilitating SI joint pain and could barely walk. I’m wondering if any or all of this is all tied in together? I had read an article about the trifecta. POTS-EDS-Mast Cell. My mom’s side, with all of the autoimmune diseases, seems like the Mast Cell type. We react to any and everything it seems like- bee stings, shellfish, latex, products...anything touching the skinner that is consumed.

Wondering if anyone has any insight...or if this sounds like another disorder we haven’t given thought to? Are these symptoms so obvious to someone who has the exact same ones?

 

Thanks to any help in advance since I know Dysautonomia can leave us all too tired to type.

Warmly,

‘The Desperate One

[Guest KiminOrlando]

I have many of these too including breaking ribs by coughing. My cardiologist says I almost meet the criteria for EDS, but not quite. He also told me IF I had EDS, it would be type 3 which is not detected by a geneticist. He isn't pursuing it. He said they would only be able to treat the symptoms anyway, so it really didn't matter, but I think it does.  My insurance company cares because diagnoses are used to determine what is covered. Does your doctor think you have one of the EDS types seen on genetic testing or the other kind? EDS Type 3 can also run in families, I think. 

I hate to say it, but you sound like you fall in that nebulous category that many of us fall into and are still waiting for answers. I hope you are the exception and get some.

[GLH18]

Thank you for sharing. My cardiologist wasn’t sure if EDS or even which form, but gave me a referral to see a geneticist. I’ve heard the geneticist was booked out a few months, but I still plan to get on the schedule. Maybe nothing will come of it, but at this point I wasn’t even sure if I was barking up the right tree. If pregnancy is in our future again, I’d like to have as much information as possible.

‘I’ve been hanging out in the nebulous category for awhile...what’s a few more years if we don’t find anything.:) 

Bad sarcasm but it’s the only way to get through most days now. 

‘I do wish you find some answers, kiminorlando, and I will let you know if they narrow down anything for me which could help your search.

 

[Pistol]

@GLH18 - I would totally get tested for both. I got tested for MCAS by an ENT/ allergist. It was blood work and a urine sample. ( I was negative, thank god!! ). If you have EDS it will not help with curing the POTS but it could give some clues as to what meds might help. I would think it is also important to  know if you have EDS just as a reason for your symptoms!!! Best of luck to you!!!!!

[p8d]

I have a diagnosis of generalized hyper mobility of the joints that my neurologist gave me as soon as I was diagnosed.  I am generally double jointed (used to think my shoulder/elbow thing was a cool party trick, ha!) but I haven’t done the testing because the geneticist is booking out almost a year and there’s no treatment for me.  I probably will pursue the testing in the next year or so for insurance/disability.  

[toomanyproblems]

I have been tested by a world renown geneticist for EDS and was diagnosed with the hypermoble type at the age 63! And it wasn't even close. They actually gasped at my extreme hypermobility in some of the categories they tested for. There's no genetic test for this type. It's thought to be dominantly inherited. I suppose my dad might have had it but it wasn't striking. I don't know how I got to be that age without knowing or having some of the more horrible complications from a young age, even though I always knew I could do "tricks" others couldn't do.

Knowing for sure about the hEDS helps me put together a theory of my many autoimmune problems. If you are continually overstretching joints to the point of tears, however minor, in soft tissue, this is damaged "self" tissue is being released into your circulation. Your immune system is likely to recognize this and be more likely to form antibodies to damaged collagen and other components released, as well as becoming "annoyed" in general, releasing generalized inflammatory chemicals that increase sensitivity to other "self" antigens, thus increasing the risk of autoimmunity of certain kinds. Because certain types of autoimmune conditions tend to follow EDS, I would assume these are the self antigens the body becomes most sensitized to in this syndrome. In my case, I think the hEDS drives most of my autoimmune problems.

I'm not sure if my theory is one shared by other scientists but it makes sense to me. For this reason, it may help in understanding why one has the problems one may have, and it may make it easier to get these other problems common to EDS patients diagnosed, even if nothing can be done about the EDS itself.

[bombsh3ll]

I was diagnosed with hypermobile EDS by a geneticist. There is no test currently for this type but you can have genetic testing to exclude the other types. I sent saliva to INVITAE to exclude the vascular type. I can highly recommend them. 

I think a geneticist would be worth seeing to clarify your diagnosis. It doesn't (or hasn't for me) lead to any additional treatment, but can help if for example you need to claim disability, because it is more recognized.

B xxx

[bombsh3ll]

On 5/23/2019 at 11:25 AM, Pistol said:

I would think it is also important to  know if you have EDS just as a reason for your symptoms!!!

I think the jury is still out as to if/how EDS causes dysautonomia, although there certainly seems to be an association. The lax veins theory doesn't seem to fit in my own case although it may be the case in some. 

Since EDS can present in so many different ways and is not always considered as a differential when patients present to various specialists, I do wonder if a significant proportion of people are diagnosed with it after developing dysautonomia, who would otherwise have gone through life without it being recognized had they not got this. I had other minor things that could be ascribed to EDS but would never have seen anyone about it without POTS happening. My dad clearly has features, as does my son, but they are healthy so have never been evaluated. My point is this could significantly bias the association.

B xxx