Lethargic Smiles Posted December 21, 2013 Report Share Posted December 21, 2013 Great news -- a geneticist who is very well versed in EDS (Dr Tinkle now near Chicago, used to be located in Cincinnati) agreed to get me in January 6 after being on a wait list for quite some time. After waiting for awhile, we wrote a letter explaining my situation and basically begging for help, and within a week or two, he had his nurse/scheduler get me in as soon as they could. From what I understand, although he doesn't treat it, he will be pretty familiar with dysautonomia.My Mom will have an appointment first, then me. My sister won't have an appointment, but is coming to answer questions for me as she had POTS for about a decade. Both of them will be a big help for providing information on family history which I hear geneticists go pretty in depth on.I was just hoping others who have been to a geneticist could share their experience (the good and the bad) with geneticists. Do you have any questions I should be sure to ask? Is there anything you wish you had known? Are the any tests I should be sure to get or questions to ask? My POTS is genetic, but seems to have an autoimmune root (other family members have autoimmune issues) and was triggered by mono. Quote Link to comment Share on other sites More sharing options...
Dustbunni Posted December 21, 2013 Report Share Posted December 21, 2013 My geneticist experience has been mostly good. The in-office appointment was great. She did request a very thorough family history and performed a physical exam, but most of the in-office time was spent discussing my symptoms: how they started, how they progressed, what conditions seemed most likely and should be tested first, etc. She was definitely more thorough and understanding of the crazy mix of symptoms I experience than other doctors. It's after the appointment things get frustrating with trying to arrange everything via back-and-forth messages, often taking days to receive a response. Obviously, this is not a problem unique to geneticists, but frustrating nonetheless. It can also be difficult to convince other doctors to follow the geneticist's advice. My primary has no problems with this, but other doctors I've seen have not been so accepting. Some of them almost act as if my geneticist was just some quack - she is most certainly not but they're not familiar with my conditions and I don't think their egos handle that well. Overall, I think the geneticist has been the best choice for me simply because she's the only one I've met who is actually knowledgeable enough to look outside the box at rarer conditions. Quote Link to comment Share on other sites More sharing options...
Katybug Posted December 21, 2013 Report Share Posted December 21, 2013 My geneticist is my favorite doc. She has been more thorough in taking history, current status, and physical exam than any of my other docs....and, frankly, that saying something. My best advice is to sit down with your mom and sister before the appointment and write down all the family history....even with all 3 of you it will be hard to remember at an appointment. And, if you don't already have a running list, create one ahead of time of symptoms that you experience. ....again, you'll never remember all of them if you wait for the appointment. Even minuscule things mean something to my geneticist where others blew it off.That all being said, the one problem I have is that my docs office/assistant is not responsive at all. I always have to make several follow up calls to get what I need. I cut them some slack because she is booked over a year out if that gives you any idea of how busy she is. I think the hold up is more with the assistant than the doc. Quote Link to comment Share on other sites More sharing options...
looneymom Posted December 21, 2013 Report Share Posted December 21, 2013 Hi JackieAre you thinking that your POTS may have been triggered by mono? My son was just seen by an immunologist and asked if his could have been triggered by mono. This virus can trigger many things if you don't get it out of your system. This immunologist deals with those type of immune related things.Hope your you visit with the genetic doctor is helpful. My son was seen by one but he was not able to help my son. He did not know much about POTS. Wishing you the best with your appointment.Rachel Quote Link to comment Share on other sites More sharing options...
Lethargic Smiles Posted December 23, 2013 Author Report Share Posted December 23, 2013 Thanks for the tips everyone! It confirms the gist I've been getting which is geneticists in general tend to be much more thourough than other doctors. That's what I need.Looney Mom-- I think it was a perfect storm. I have a predisposition to POTS (my sister had it) and dysautonomia (Mom & Grandma), and was doing fine, then I got mono and it triggered it. My immunologist hasn't been able to help (not for lack of trying -- she's the one who found POTS) because my EBV levels in my DNA are normal. My lymph nodes swell all of the time and the like. Hoping January 6th brings me some answers! Quote Link to comment Share on other sites More sharing options...
Lethargic Smiles Posted January 7, 2014 Author Report Share Posted January 7, 2014 I had my appointment with Dr. Tinkle today. He was very attentive and, between my Mom and I (joint appointment), we were there about 3-3.5 hours. About 75% of that time, was spent with him. A little bit was spent with a genetic counselor gathering background information.He is willing to help with POTS, but offered two specialists. I said, at this point, I don't feel there's much left to learn about my POTS, so I am fine with him managing my medications through my GP! He is willing to try me out on Mestinon which I've been wanting to try. He is going to take some time to sit with my medication list and think of what order he wants to do tweaking in. I will know the game plan by the end of the month.I officially have been diagnosed with EDS 3. We are going to do some physical therapy and some retraining for how I move/position myself and the like...He had no guesses on my lymph node issues (chronic swelling of throat/armpit) or fevers. Family members of mine get swollen joints and fevers. He was uninterested, just no clue on what would be going on there other than it is obviously some sort of autoimmune issue. I sort of liked that he didn't speculate about things he has no clue about and just stuck to what he is an expert at.Also, he was really helpful to my Mom who has all sorts of joint issues and had POTS in her 20s (not diagnosed back then in the 70s). Quote Link to comment Share on other sites More sharing options...
westernmass Posted January 9, 2014 Report Share Posted January 9, 2014 Thank you for sharing your experience! I see a metabolic/geneticist in May. Wondering about EDS and/or mito. It's really interesting you mention lymph nodes! I have one in the back of my neck that swells and goes down and swells, and two in my groin that stay swollen. No one (pcp and neuro) seems concerned but it seems really strange to me. Quote Link to comment Share on other sites More sharing options...
Lethargic Smiles Posted January 9, 2014 Author Report Share Posted January 9, 2014 It's really interesting you mention lymph nodes! I have one in the back of my neck that swells and goes down and swells, and two in my groin that stay swollen. No one (pcp and neuro) seems concerned but it seems really strange to me.Do they hurt and what tends to trigger the swelling? Quote Link to comment Share on other sites More sharing options...
westernmass Posted January 9, 2014 Report Share Posted January 9, 2014 They don't hurt, do yours? The ones in my groin haven't fluctuated at all, but the one in the back of my neck seems to be worse when my neck pain is worse? Maybe? LOL, that might be a reach...there's no definite triggers that I've noticed for the fluctuating size. Quote Link to comment Share on other sites More sharing options...
Lethargic Smiles Posted January 11, 2014 Author Report Share Posted January 11, 2014 Yes, mine are painful. It gets to the point where I wear my fiance's shirts so nothing presses on my armpits. Activity makes mine worse. Quote Link to comment Share on other sites More sharing options...
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