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[MightyMouse]

hi everyone...

I got the call today from the genetic counselor: my genes don't show the suspected error they were looking for, which apparently is present in better than 90% of those who they test who also are short like me.

The geneticist and I both don't quite know what to do next --we both think I have some type of genetic syndrome, but not sure which it is. I did tell her I didn't want to come back to see the doc I'd seen in June b/c of the fact that I didn't think it was professional of him to flippantly state he's taking away the EDS diagnosis, but then fail to tell me what he thought I had, and leave the room, all in less than 3 minutes of a 3 hour long appointment (3 others, including the counselor, took care of me for the other 2 hours and 57 minutes ). I told her he'd really ticked me off; and she said she noticed that at the appointment but couldn't fix it. I did tell her I appreciated that and I was pleased with how she and the other two did their jobs, but that the head doc blew the whole thing by being such an idiot... I know she can't fix it. She said she'd talk to the other doc there, and also would keep my file in case she comes across something that "sounds like" me.

I also requested a referral to a pain management doc that might be able to help me--the drugs I've been given haven't helped; oxycontin makes me too hyper to sleep (if I can't sleep, life isn't possible for me). I was back at PT for a while (6 weeks this summer) and it actually made things worse with my neck and shoulder and I've not recouped. I don't want to go back to my current pain doc b/c his last suggestion when I told him what happened with the oxy, was to give me morphine. There have to be other options...

I'm a bit bummed to not have an answer that pulls the whole picture together, but feel at least okay knowing that my overall treatment plan, for now, is pretty much stable.

Nina

[pat57]

I believe narcotics--oxy and morphine, are much safer long term. My feeling is- they are good choices.

Did the morphine keep you up?

Are you still working? Going to school?

Hope you get some answers.....

[Mrs. Burschman]

Sigh. What a pain (literally!)

I'm sorry you didn't find what you were looking for. (Only here would someone be relieved to find out they have some sort of syndrome!)

The answer's got to be out there somewhere. In the meantime, keep looking! And I'm glad your treatment plan seems to be A-OK.

Amy

[Rachel]

Nina,

Sorry to hear that you still don't have an answer. It's frustrating when you know there's something more, but just can't quite find it. Glad you're keeping a positive attitude. I hope you can find a good pain management specialist who can help you. If you learn anything new, let us know.

Rachel

[flop]

Hi Nina,

sorry that you don't yet have an answer to the genetic conundrum - maybe no-one has yet named whatever you have, you could call it "mouse syndrome" or "mighty syndrome" or something like that???

Flop

[Mrs. Burschman]

Nobody likes to have a syndrome, but I must admit, it would be pretty cool to have one named after me.

Amy

[MightyMouse]

thanks for the responses...

morphine-makes me sick to my stomach and gives me a horrible headache that rivals the pain I'm already in.

oxycontin-makes me so hyper that I could easily be mistaken for someone in the middle of a manic episode. My talking is super fast, my thoughts race, and I'm physically hyperactive--can't sleep at all, even with additional meds targetted for sleep. The combination of excess activity exhausts me physically, which compounds the pain problem--because then I'm in pain and exhausted from being without sleep.

NSAIDs (asprin and it's relatives like motrin, alleve, etc.) are not a solution, although they do help. My problems with GI reflux, inflamation, erosions, etc., mean it's only a very rare time that I might use some safely and only on a full stomach--even with use of Nexium, which I already take 2x day (so much for their advert saying it provides 24 hour releif!).

I'm already fused at the joint from which the pain is emanating--so the cervical epidural shots aren't possible either--there's no disc space to put the needle into. Teri has been looking into some pain management systems that implant a pump that delivers meds directly the problem area--but that would certainly mean neurosurgery again. In a perfect world, I wouldn't have to have back surgery again...in MY world, it's highly likely to be needed again, but I want to make sure I've done EVERYTHING that's possible, based upon scientific evidence, to address the pain before going down that road.

So, I gave in and took Aleve tonight. Tummy woes to follow certainly. I took two b/c I figure if I'm going to use up my one chance in a long while, I might as well do it MIGHTY big .

Hugs to all, Nina

[morgan617]

Sorry Nina, I am awaiting genetic results too, and as things usually never go well with me, expect them to find nothing...I couldn't be that lucky. I know you will know how I mean that. Who wants it, but you've got something totally crappy, it would be nice to have the validation.

My blood is in Germany, so I won't have to worry about dealing with a jerk. I would imagine you have a syndrome they haven't discovered yet. For Periodic Paralysis, there are over 30 mutations and they only look for the three most common in the U.S. Hence, my blood being in Germany.

I was going to recommend the injections they do under flouroscopy, but am not sure if those are the injections you can't have. I have a friend here that had them and she says she had no idea how really bad she felt till she got them and felt so much better.

I hope your gut doesn't suffer too much and you can get some answers. Oh what a world.....

[mkoven]

Hi Nina,

Sorry to hear about the diagnostic chaos and all the pain. Do you still have plans to see Francomano? EDNF folks rave about her, and she's a national specialist in connective tissue disorders in general, so wouldn't fixate on eds, if that doesn't work. I really would like to see her too, but it's hard to coordinate her availability with when I'll be in the area.

I wish I had something useful to say about pain meds. I'm really sorry about all that's going on and that there are some new strategies that emerge with minimal side effects.

Thinking of you,

Michele

[pastordari]

I'm sorry Nina.

I have the same reactions to the meds you do . . . frustrating.

I'm so very sorry you are "back at the start" as you term it.

Dari

[doctorguest]

Hi Nina,

It's understandable that it would be more definitive for you and your doctors to have a positive genetic testing result. However, not to have diagnostic tests match with a clinically suspected diagnosis is a common conundrum in medicine. Things just don't always add up when evaluating a patient with a complicated disorder. I would venture to say that because you tested negative for this specific mutation does not negate the clinical features of your disorder - that is that some kind of mutation in either collagen, fibroblasts or another component of the cellular matrix may be still present. Yet another possibility is that you may have fallen in the 10% of patients with this disorder whose genetic tests are negative. Do you know what were the reasons behind the geneticist refuting a diagnosis of EDS? This would be valuable to know with respect to whether he is certain that you don't have EDS or whether he is simply not sure if you have it.

Therapeutically, I don't think that testing positive for this genetic disorder would have changed much for you, unless of course it involves the factor of having biological children. Essentially, you're still left with the same problems after the testing as before the testing, and this would have been the case even if you had tested positive. As you said, you're back to square one, and I hope you get better pain management as it seems to be a more pressing issue for you at the moment.

Take care,

doctorguest

[MightyMouse]

The head doctor discounted EDS; however, I clearly got the impression that the other 3 docs didn't completely agree with him. He said my joints weren't that hypermobile (at least not the ones he looked at). He didn't believe me when I told him of all my dislocations (jaw, toes, wrist, etc.). He said I didn't have stretch marks (i have hundreds of them on my calves, buttocks, thighs and chest). He didn't think my skin was all that elastic, to which I did argue that the elastic skin isn't a primary dx issue for EDS III, but a secondary finding. I DO have very smooth, young looking skin for my years. I think my stature threw him to hypochondroplasia, which I can accept, but i want a better rationale --one based on my actual body condition and not on his preconceived idea of me from the case conference he had in the hallway with his fellows before stepping in to meet me for those 3 minutes.

I agree, too, that I could be in the 10%, but I got the sense the genetic counselor didn't think so.

You are correct, it doesn't change anything with regard to my current menu of treatments. I did, however, let my hopes get a little bit up that i might have a diagnosis that would connect all the dots, finally. Maybe too, a sense of validation to be able to counter some of my relatives who are sure I am making all this stuff up and certainly, I'm a hypochondriac. I am strong enough to know that what's going on with me is real enough. I'm not going to have biological children--i don't think it would be safe for me, and since what's going on seems to be genetically dominant, it's a high risk of passing it on.

I just really needed to vent and appreciate that this is a safe place to do it. Thanks. Nina

[lalalisa]

Nina,

Hello. I'm sorry to hear about your recent testing woe's. Being validated is definitely something we all long for and I'm so sorry to hear about the pain you are experiencing and the family members who aren't taking you seriously. Sounds frustrating!

Please take care and keep us posted.

Lisa

[morgan617]

It's sad that we don't need the validation for ourselves, but to refute others opinions. I totally get that. I tested negative for sjogren's, but that is one thing the doctors all do agree on, and no one refutes. A certain percentage of people just test negative, so they go by my symptoms.

That doesn't help with unresponsive and non supportive family and relatives though, does it? It sounds like you would have had to be a freak show for these guys to believe you. I am really sorry, and it would be so much easier if we had the proof. We all need one of those easy buttons from staples or something...

[Sophia3]

Nina

Sorry about all the tests and challenges you are going through. I hope you get a handle on the pain as that is such a drag and pain meds can give us such odd and unusual side effects.

If it's not nausea, it's some weird feeling to our muscles or they make my ears feel three feet apart. Sigh.

Hope you find something to help.

[doctorguest]

Hi Nina,

Dealing with family members who don't understand is always difficult. I don't think that because you didn't test positive for this disorder means that you didn't get the validation of your medical problems. I have patients who don't fit into any diagnoses, and and in those cases, their diagnosis becomes a broad diagnostic category with the words like "undifferentiated", "unspecified" or "NOS - not otherwise specified" attached to it. If it would make your family understand better, you can always tell them that you have "an unspecified connective tissue disorder". This happens a lot in rheumatology and immunology when people don't fulfill diagnostic criteria for lupus, for example, but have some features of it nevertheless. The rheumatologist may choose to treat them for lupus, but can't call it lupus, so they come up with something like "an unspecified autoimmune syndrome", or "lupus-like syndrome", etc. Well, I hope these test results did not make you too upset. If it makes you feel any better, clinical genetics is a very new field in medicine and is in the "developing stages" - more than the autonomic disorders field. The geneticists probably didn't add anything in the process of their evaluation, but they didn't take anything away from your problems either, despite the questioned EDS diagnosis.

[Maxine]

Nina,

I forgot how your EDS hyper mobile type III was first diagnosed. Did you have contact with a compentent EDS geneticist who has years of experience with this disorder-----previous to your recent appointment with this genetist? The beighton scale is one of the tests used to determine hyper mobile type------------but I think you already know this. Of course there is other testing------------ detailed genetic screening is taken, checking for poor wound healing, and additional questions on health history ect. My beighton score was 6 out of 9, which is high for MY AGE.

If you feel in your gut that you have EDS, then maybe you could give Dr. Nazli McDonnell's office a call. I'm on a waiting list for a study. I need to follow up. I filled out the questionaire, and was accepted into the study.

Good luck, and I hope you find some answers.

Maxine :0)