Appt With Genetic Counselor Next Week! And A Few Other Questions...

[JeWareGT]

I had an appt with my cardiologist yesterday and mentioned EDS to him, and he gave me a referral to a genetic counselor. I have an appointment a week from today...any advice?? Anything else I should go ahead and get tested for while I'm there? I've never done genetic testing before, so I'm not really sure what all they can test for, etc.

My cardio appointment was pretty much worthless other than that; yesterday was apparently day 2 of their brand new computer system, so I mostly got ignored while he tried to figure out how to enter my information into the system. I asked about licorice and whether or not I needed my potassium levels checked (I've been drinking licorice root tea every morning for about 2 weeks, and I've been sleeping so much better and can definitely feel a difference) and his only response was "I don't like tea with dysautonomia because it has caffeine, but if you like it and it makes you happy, go ahead and drink it." Um.... first of all, it is caffeine free, and secondly, I just told you I'm self medicating with an herb and wanted to know if it's safe, and you basically ignored me. But of course, after sitting under fluorescent lights up on the table with my legs dangling for 45 minutes, my brain was a little too foggy to actually think to say that. So I didn't get an answer. Anyone know?? I'd like to start taking it in pill form, but herbs kinda freak me out so I don't want to do anything that might end up being dangerous.

Also a bit of advice...always bring your own salt when you go to someone's house! I was at my inlaws all weekend, and felt especially crappy despite over salting all my food as normal, etc.... well Sunday night, I went in their pantry and saw the big container of light salt. It didn't occur to me that they would have only low sodium salt in an effort to be healthy, and inadvertently make me feel like garbage all weekend. Lesson learned, I'll always bring my own on trips from now on, or at the very least check to see what's actually in the shaker!

[ukwildcat]

GTgrad24, I wish I had advice for you about EDS genetic counselor and tests but I dont. Instead, I am in the same boat. I have been having increasing joint pain along with pots. Due to my second positive RA factor test, I have been referred by my cardiologist and family doctor to see a rheumatologist and a geneticist. However, I have to wait till April to see geneticist and Feb. for rheumatologist. They did let me speak to a genetic counselor on phone, which helped me to understand some and ask questions about EDS, while waiting for my appointment in April. However, I really dont know what test they do etc. The unknown is always a little nerve racking. Good luck on your appointment. Any information you find out is always appreciated. Thanks for starting this post, I have also been searching for answers.

[JeWareGT]

Wow, that's such a long time to wait! I guess I'm really lucky I got an appointment so quickly... I hope this means they aren't as well qualified or anything like that.

I will definitely report back next week and let you know how the appointment went.

[ukwildcat]

There are many good doctors out there, but it was recommended that I go to Bradley Tinkle. I was so excited that he was located by me and Cincinnati, OH. However, when I called, he left and relocated to Chicago. So, I decided to make an appointment with a doctor(geneticist), that was still located here and I also heard good things about. From what I understand, this doctor worked and was a team mate with Dr. Tinkle. We will see what happens from there. However, if you look up Dr. Tinkle, you can find a lot of information on hypermobility EDS. Another thing that I found was the beighton test. Look that up, it is one of test they do for hypermobility EDS. I may be telling you things that you already know. Im just starting to research information on EDS, so I am a newbie on this illlness. When you first start researching an illness, it is difficult to know where to start, what is good information, and the information that applies to you. All very confusing and overwhelming. Some people say not to look things up on internet, however I always think (after dealing with pots) the more I know about an illness, the more I understand when the doctor is talking to me about an illness. Also, I can be a better judge of the doctor, because I have wasted alot of my time with doctors that didnt know much about pots and how to treat it.

[issie]

The one type of EDS that you need to be concerned about is the vascular type. There is not much that can be done for EDS - other than pain meds and muscle relxrs. And you have to be careful with those. I support my collagen and veins with Vit C and Quercetin. Many of us with POTS have the type 3 EDS and that can not be tested with genetics. Along with EDS and POTS ---the doctors are also connecting mast cell issues with these two things.

Also, many of us with those things also have autoimmune related problems. I'm low IGG called hypogammaglobulinemia. The doctor also thinks that I have mitochondrial issues ---but, that hasn't really been tested either. But, I do support my mitochondria with CQ10 and a few other things.

It is good to know if you have EDS or not and especially if a surgery is required. It can be pretty touchy with us with these issues. It may take a lot longer to heal and also there has to be more care given to closure, anesthesia etc.

Issie

[Katybug]

The geneticist that saw me 2 weeks ago made a clinical dx of EDS Hypermobile Type (3). As Issie said, there's no test for it. There's only 2 of the 5 types that there is any type of test for and apparently those tests aren't fool-proof. So, there was a 30-some page questionairre that I had to fill out ahead of time. It included much more detail than any other doctor's questionairre I've ever seen. I tried to figured out a way to attach it to this post but I can't. If you want to PM me your private email address I am happy to forward it to you. It was all information that was used in my diagnosis and also in determining the type of EDS I have. Once I was there, we briefly went over some points of the questionairre, then she conducted a very thorough exam. Everything from neurologic tests to range of motion, strength, checks eyes thoroughly (I have very blue schlera), found little bumps/papules around my ankles I didn't know were there that are an indication of connective tissue disease, etc. I guess what struck me was that all those little symptoms the every other doctor has ignored all these years were important to her, so I would advise you to make a really thorough list over the coming week of anything you can think of regarding your symptoms or your medical history or family history. I am not having any testing that is "genetic" in nature but based on the appt, she is sending me for another echocardiogram, a CT angiogram, an upright MRI for brain and cervical spine, physical therapy, ankles braces, and orthotics. There were several other recommendations she made for me too. Good luck and I hope you get some answers.

[JeWareGT]

Thanks for all your responses! I'm completely new to all this EDS business, so this is really helpful. Katybug, I sent you a pm with my email address.

[arizona girl]

Well I'm not new to dinet, but it looks like I'm hypermobile too, though I had the vascular test ruled out years ago. Just saw a genetic doctor for another reason, but this issue came up, and it appears I have it, I just don't know what kind. We only briefly touched on it and she mentioned avoiding yoga, and high dose vitamin c in the future. We are going to deal with my mthfr gene defect first.

Katy, I'd also love to know who your doctor is and the testing information, I'd like to shoot that to the genetic doctor I saw and will see again in the spring. All the other tests you mentioned have not even been suggested to me yet and would seem to be very useful. I've had many tests, but none of those.

When you get through all of them, I hope you will share with us the results and treatments. It sounds like you've got a real good doctor on your team. Consider sharing her name and location with the forum members.

Take care all, and wishing you all a good journey with your new doctors.

[corina]

Hi GTgrad24, welcome to the forum! I liked your advice on always bringing your own salt. That is SO true! I went on a really nice weekend out some time ago where it turned out they didn't use any (added) salt. It had an immediate impact on my body. Good luck on your testing!