Just wanted to give my first Hello from here in New Jersey USA... just got my diagnosis from the Rheumatologist last Monday and it looks like this is a great forum!
A bit of my story:
I grew up with the skinny Marfanoid look (like many in our family) and did the double-jointed tricks, etc but never had any real joint "problems" as a child. At age 6 I had surgery to correct a severe pectus excavatum, however most of the deformity returned in the months following surgery. I was checked by an ortho a couple times since I had developed a mild kyphosis and scoliosis and had a mild mitral valve prolapse, but nothing of import came up. I was told to always do postural exercises and be careful about overextending my knees and that was that.
As I got a bit older, I started having mild joint problems - troublesome knees, subluxing TMJ, locking elbow, etc. Always a bit weak and "lazy" in general, and tons of headaches. I considered everything to be fine until last summer (a year after 2nd baby - a very painful pregnancy which left some problems) when suddenly I was dealing with middle back pain, looser-than-normal joints, worse headaches, lightheadedness, mild shortness of breath on stairs and heat intolerance. Needless to say there was a round of testing, doctor visits, and I started seeing a Chiropractor. I pushed the possibility of Marfan syndrome (because of my history) and got all kinds of cardiac testing done, which thankfully showed a healthy-size aorta, although all the valves have mild leaking, and the pectus deformity is pushing on the heart a bit. My conclusion last summer was that maybe a hormonal change had occured - I had just stopped nursing before it all started, and most symptoms (except the back pain) seemed to ease as the weather cooled off in September. I decided to let it go because I was sick of doctors giving me that look, you know what I mean
I continued the chiropractic as needed throughout the past year and kept tweaking my exercise routine where I thought I needed to. (At this point I just walk uphill on a treadmill at home, and do whatever stretches/ strength stuff I feel I need)Then around April this year some weird stuff started... sudden painful spasms in a hip muscle, occasional tingling here and there. Again I just adjusted the exercises and the chiro tended to help a bit. Then in May there was a bad 2-3 week period with muscle and joint aches, painful spasms, muscle twitching (at rest only), lightheadedness and major headaches. It was like last summer but worse! I ended in in the Emergency room three times for the pain, spasms and once when bladder function changed a bit. As you can imagine this started a whole new round of testing, worrying about Lymes or MS, and doctors looking at me "that way" because everything came back normal.
I then got a new primary doctor who actually took me seriously and sent me right to the "arrogant but smart detective" rheumatologist. Ten minutes later I have the HMS diagnosis, about twenty X rays to look for degree of arthritic change, and a lecture on how to isometrically strengthen my VMO (knee muscle). He also (at my request) wrote an order for the collagen A and fibrillin genetic blood test. (I am waiting to hear from my insurance on whether they will pay for that - they probably won't.)
The past couple weeks has been a little tough. LOTS of backaches and random joint pain, trouble braiding my daughter's hair, needing to lie down a lot. Right now my plan is to try Aleve and maybe meet with my regular doctor soon.... and praying hard that symptoms improve in September again.
Mostly what I feel right now is relief. Firstly because I can stop worrying about MS and stuff like that. Secondly because I'm currently enjoying the "ahhhh that explains soooo much!!!!" feeling. And thirdly because my single greatest fear in all of this was following the path of many family members: plagued with these physical problems and never knowing WHY.
Obviously I wish my body wasn't like this, and I know it's a tough road with not too many "fixes" available. But it feels nice to feel normal on here!
. Its always great to have folk come along!