Confused. Connective Tissue Disorders. Oy.

[imapumpkin]

I went to meet with a geneticist yesterday at the recommendation of my POTS specialist neurologist. I thought I was going there to rule out whether a my POTS might be a mitochondrial inherited thing. Instead I guess I was going there to find out whether I had a connective tissue disorders..EDS, Marfan etc...and I'm so confused. My neurologist never inidicated that I needed testing for these syndromes because I present absolutely no hypermobility and essentially none of the symptoms of any of the four main syndromes they were searching for. He automatically confirmed through clinical diagnoses I don't have EDS, Marfan Syndrome and sticklers syndrome, and said he really really REALLY didnt think that I had Loeys-Dietz but more or less insisted I get tested for it...even though the only symptoms of it i have are easy bruising (which can be explained by my von Willebrande's disease) and my congenital heart problem (the mitral valve prolapse i had surgically repaired in January). He basically said he wouldn't be at all surprised if the test comes back negative since I don't present the distinguishing symptoms.

He then says if it does come back negative (which i expect and super hope it does because it coincides with a higher risk of aortic aneurysm) then I must have an "unspecified disorder connected to MVP and POTS". I don't even know what that means. He also asked if I was planning to have children in the future to which I said definitely. He also said I would need to go back and see a geneticist again when I plan to start a family because connective tissue disorders "can cause complications for pregnancy".

I feel like a deflated balloon. I'm really confused. No one has ever mentioned connective tissue disorders to me in my case of POTS, (although i know of them from this forum which is why i was positive when they started asking me to stretch and pull on my skin that they were testing for EDS and I knew I didn't have it) and while I suspected there was connection between my MVP and POTS i never thought it was a connective tissue thing, and having just recovered from heart surgery, the thought that i might be at a higher risk for aortic complications feels miserable. Also being told that I might have something preventing me for having a family which I have always wanted and want so badly makes me feel awful.

The doctor also seemed extremely skeptical that my aortic valve has been normal. He asked if "when you got your echo, did they tell me your aorta was normal?". I said yes. He found this to be a dubious statement. The thing is, I've had 1-2 echo's a year and have been seeing my cardiologist for 7 years. If there was an abnormality in my aortic valve, wouldn't he have mentioned it? As in, isn't that something else I might want to watch and monitor? Now he's got all my anxiety bells and whistles going off. I couldn't sleep last night because I was worried there might be something else wrong with my heart and possibly that I might have a disorder that hugely complicates pregnancy. I guess what I'm asking is, wouldn't my POTS specialist and especially my Cardiologist have mentioned if my aorta was a concern or that I was being checked out for connective tissue disorders? I just dont really get what happened and I feel like all it did was up my anxiety level.

[Chaos]

Wow! Would be nice to get docs with a "happy medium". Someone who listens and helps us without going way overboard and adding a pile of anxieties- probably needlessly- to our already overtaxed nervous systems.

First, let me say that I would definitely think that if you have been seeing cardiologists for 7 years and having that many echos (AND just had heart surgery this year) that your docs would know if your aorta was normal. Secondly, let me say that I have EDS and had 5 pregnancies and while 3 of them were fairly complicated, 4 resulted in live births and ultimately healthy babies who are now all grown up into great kids. So don't let this doctor stop your plans/dreams for a minute of having the kids you want to have. There is absolutely no way he can predict what will happen with your pregnancy(s) even if you DO have a genetic pre-disposition...which sounds kind of unlikely.

Last I heard, there were over 200 "unspecified disorders of connective tissue" so at this point, it's all so vague that I really don't know how helpful it is to get that diagnosis. Seems like if it's unspecified, they don't know enough to be able to really tell you what the risks associated with it ARE....just what they MIGHT be....which are probably what just about anybody on the face of the earth has to know are risks they might face.

So sorry you had such a discomforting appt with this doctor. Maybe he's just doing the usual CYA medicine that so many docs practice these days so he can document that he told you all this "in case" but it certainly sounds like he doesn't really think there is much chance that you have any of the things that would be most concerning or put you at high risk for further complications with a pregnancy....other than what the POTS etc already does.

Hope you can relax a little and take some deep breaths. Hard to put these things out of your mind once you hear them though.

Hugs!!

[Katybug]

I think Chaos summed it up nicely. And, for the record, I have EDS also and my aorta checks out just fine as does my aortic valve. I do have MVP. BUt, not every type of EDS or even unspecified connective tissue disorders necessarily imply an aortic problem. I haven't had children but tons of people on the EDS forum I belong to have and they're just fine. I think I would make a follow up call or request the notes from the geneticist visit to clarify what if any diagnosis he definitely gave you. And, I would also follow up with your POTS neuro to find out if you should have been evaluated for some sort of mitochondrial issue.

[imapumpkin]

Thanks for the responses! I'm just so frustrated that this doctor who I've never seen before, who only examined me for a few minutes and found no visual evidence to clinically diagnose ANY connective tissue disorder, but for him to tell me "hey, if you don't have loeys-dietz then you have an unspecified connective tissue disorder" is kind of very upsetting. An unspecified connective tissue disorder? Since when? No one has ever said that to me, that has never been suggested by any doctor I've seen since my POTS diagnosis and I present no symptoms. I feel like he just wanted to shove me into a diagnosis, put me in a box and move on. I'm sorry but just because I don't fit into one box doesn't mean I have to fit into another.

I can't help it, i feel really angry with this doctor for making all these assumptions. He also was condescending about the fact that my cardiologist might actually be on top of my heart situation. At one point he asked me what i do for my low blood pressure. He looks down and with a judgmental look, goes "Do you WEAR pressure stockings?" (He saw my bare legs as I was wearing a sundress and had left my stockings in the car because it was 92 degrees outside.) I said "yeah, they're in the car, it's very hot out." He looked surprised. I am very young looking. I'm 25 but I look 19 or 20 and my boyfriend is also young-ish looking and he was with me. The doctor seemed to have an attitude like we were both just dumb kids and that I don't have a good grasp of what's going on in my body. I don't see my POTS neuro specialist for another month and a half and I really want to ask her what the heck happened to me in that geneticists office. I don't want her to just take is word that I have an "unspecified connective tissue disorder" just because he is a physician and wanted to assign me a diagnosis. I am going to request a copy of the report from the visit because I feel like I didn't have the capacity to stand up for myself and say "wait, i don't understand this" because it was late in the afternoon, we spend 3 hours waiting, it was an extremely hot day, we had driven 2 hours to get there, i hadn't eaten since the morning and my brain fog was overwhelming. I have faith in certain doctors but I am not about to be forced into a diagnosis that I have no reason to believe I have.