Ok, so how did the appt go? Well I am the type who shows up early for anything & my letter said to be there at noon so I was there at 11.30, when I get there they tell me I didn't need to be there til 12.30. So I went down to the subway (it's not a real subway, it's just a little underground mall) & got a bagel & juice since I had forgotten to eat before I left. I got a good spot to sit & eat & read my book. I checked out the medical supply store there & felt like a kid in a candy store, even though it wasn't very big the plethora of wondrous things was astounding. Then I headed back up & checked back in & grabbed a seat.
Then I waited, waited, waited & waited. Finally my name was called. The woman who I saw the the geneticist's PA or something, I didn't ask her title. She did the family tree & did my height & weight & asked a bunch of questions. I didn't know the age of my grandparents when they died, but was able to make guesses that turned out to be within a few years of right so that was good. (Handy tip find out how old people are or were when they died before you go.) I gave her the family symptom sheet I had made at home. Then I went back to the waiting room where I prepared to grow old & die. At about a half hr later I got called back to meet with the geneticist.
I really had some butterflies going at that point & went back. We met in his office & the second I shook his hand I felt much calmer. His pic on the Mayo site made him look a bit formal, but he in person has a welcoming face & a friendly manor. I told him that I have Poland's & said I didn't know if the disparity between my sides would effect any testing & that side-by-side comparison of any joints would not be able to be done. I asked if he could tell me really quick if there were any updates on Poland’s & no they still hadn’t figured that out. He disagrees with the clot theory & thinks there is a genetic component. The first question from him was why I was there now. What did I want from this appt. I told him was there now because I went without insurance for most of my adult life & had insurance now. I told him I was running in to problems with pain & with my joints dislocating more often. I told him I wanted to rule out V-EDS & Marfan's & if we could rule in or out EDS & if in, then what type. I told him I have 3 children & I want to know for them. Seemed that those were good answers & we moved on. He asked about my joints & I showed him a few hand tricks & he said that I wouldn't need to change in to a gown unless I would prefer that. He said he would be able to tell me if I had EDS & should be able to type it. I kinda grossed him out with pulling my finger til the joint at the base separates (that, it turns out is a full dislocation). He asked if I was working & I told him I couldn't. He asked a ton of things about me & the rest of the family & ask if there were more family in the area, but there aren't. He checked my upper chest & skin stretch, plus my joints & how I move when I walk & my scoliosis. We talked about how my symptoms affect me & my life. He explained about the types of EDS & then told me that I do have EDS. I have H-EDS, or by it’s older name EDS III. We talked a bit about that & I asked if the collagen was defective, lacking or both. He said right now they don’t know for sure. He said his thinking about H-EDS is that it may be 2, 3 or more types of EDS being grouped as one. That for some families it may be a lack of collagen or for other families it’s another set of genes & they have defective collagen. I did ask if there was any other connective tissue disorder it could be or anything else it could be. He said no, I have EDS, he said it could be possible that my family is C-EDS, but with only me to examine he felt my symptoms only fit H-EDS.
I then asked about how old my daughter would need to be to be seen. He said some docs who aren’t as experienced my say there is an age children must be, but he feels confident /comfortable seeing kids of any age. I said I would want her seen before she was school age so I along with her pediatrician can formulate anything we need to do for school. He does not treat patients, so I won’t see him again until my daughter goes or if my mom ever moves out here & needs to be dx’ed.
I am kind of still wrapping my head around this, I know I knew going in that this would be the outcome, but that doesn’t make it easy to accept.
About Me
- Queen Slug
- Little Town, Midwest, United States
- Just your average 30-something mom with EDS & Poland's Syndrome.
Subscribe To
Posts
Comments
Map
4 comments:
Hi. I was diagnosed with Classic (type II) EDS about a month ago. I am 32 and have a daughter who is 2 and a half. My case is very very mild, compared to my mother who has many many problems and severe pain. My grandma has it too, but again hers is quite mild. She is 92 years old and very healthy other than the EDS. She still drives even. I think my daughter has it as well, but I will definately hesitate to get her tested unless I am forced to as I don't really want to label her at this point and I do worry about health and life insurance for her future if she is "diagnosed", even though we do live in Canada.
It is hard to accept, and I have mostly been avoiding the issue lately. My mother brings it up, but I am not ready to talk about it fully. She was only just diagnosed in May 2008.
Anyways, thought I would tell you all that and I also found this website I thought you might find interesting:
http://www.clevelandleader.com/node/6446
TeeHart
Big hugs girl. You're making progress in finding some relief. I know it's a lot to take in, but now that you have an actual diagnosis, you can move forward with treatments to help better your quality of life. Lots of hugs. I think about you all the time. <3
I have H-EDS too. The diagnosis is a blow. Even if expected, you always think at the back of your mind that the doc will tell you that you are totally normal. So it is normal to feel like you have been kicked in the teeth. It will soon pass.
I had my kids diagnosed because my daughter subluxated her hip in school (first grade) and no-one believed her.
But it is a personal choice and you have to look at all factors before making a decision like that.
Try to find a rheumatologist with experience with EDS if you can for your continuing care. Mine has really helped me. She totally gets it and has helped with referrals and a bunch of stuff, not just joint pain.
One Sick Mother
teehart - I feel like this is something I can't seem to quite get my head around. In my family my mother was, up until recently astoundingly hypermobile & all things considered, the least negatively affected. My grandmother was in pain & fairly severely affected. My sister was in agony from teen years on. I am somewhere in the middle of all that.
momma - Have I mentioned what a kick ass friend you are?
OSM - I hope the kicked feeling passes soon. I feel a bit disconnected at the moment, very much like limbo. I have had moments where I have felt like this before, it's as though my mind/soul/heart/whatever is making things clear for me to begin to process things in "bite-sized" bits so that I don't choke on it all. I have no clue if that makes any sense to anyone but me.
One of the biggest reasons I am thinking of getting her dx'ed is the bruising & dislocation. The pre-school she's going to start next week, the teacher there has known me for years & will take my word for how to care for Toad, but can I count on schools to take my word?
I know the brand of EDS on ones hide can make insurance an impossibility later, but on the other hand my sister developed crippling depression form years of being told it was all in her head, that there was nothing real wrong. She ran track & liked sports & was constantly told to push thru her pain, I was given a lot of that as well. I am not getting her dx'ed right now, I am waiting to see how she develops over the next 2 years.
Post a Comment