Joint hypermobility disorders :
FINALLY! Tentative diagnosis! - - Posted by rhea (rhea), 23 November 2002
Im back from the long trip to see this opthamologist. My aunt is his secretary and was telling him about all my knee/joint problems. He started asking her a bunch of questions about me and than wanted to see me as soon as I was down there way. I saw him today and was he ever nice! Wish all of my docs were that interested in helping me! Anyways he is almost absolutely sure I have Marfan's Syndrome. That's a disease making the connective tissues in the joints and in the organs loose and weak causing a whole score of problems. My height, long legs/arms, my fingers and their deformaties, scoliosis, hypermobility, and a whole wack of other things about my body all point to this rare disease. When I told him what my rheumatologist said about my problems having something to do with weak or loose ligaments he said well that is Marfan's! He said that if I walked into an exam room and the students were asked what was wrong with me, they'd all say Marfan's syndome. He says Im a clear text book case. Oh, and some good news, the lenses in my eyes haven't been affected yet! Well its good/bad news in a way. Good because I dont' need eye surgery, but not the greatest because this guy can't "officially" diagnose me. He did write a letter to my rheumy saying that he saw me and he thinks I have this disease.
So anyways I am thrilled to have a kind of tentative diagnosis. Mom and I were doing tonnes of research on this and it fits to a T. Granted, its a hell of a nasty disease to have, and if my rheumy confirms I have it that means seeing more doctors, including a cardiologist and getting regular echocardiograms every 3 months. I don't much like that, but Im just so happy to get my body figured out!
The bad news about this syndrome is that there is no cure, or any good way of treating the joint problems. So I guess living a completely independant life is not a realistic expectation. But we'll see... Im going to make an appt at our pain clinic and see what can be done for the knee pain. And talk about swelling in my bad knee...it carries right down into my foot. So much so that my shoe barely fits on. A barrel of monkeys!
Well I am in a lot of pain still from the car rides, so to bed I go. I had to knock myself out with gravol just so I could tolerate the ride home, so I apologize for any spelling or grammer errors.
Bye for now everyone, and thanks for all of your support! Here's to my KNEEguru family, who have gotten me through so much!
lots of love and (((hugs))) to you guys!
PS, I got my waist length, 27 inch long hair cut to chin length today! It was too hard to look after in this condition. I donated all of that hair to wigs for kids, a program that makes and gives wigs to children with cancer. My aunt (my hair stylist) said it will make at least 2 if not 3 wigs.
Posted by Rich_NYC (Rich_NYC), 23 November 2002
Congratulations on the tentative diagnosis. After all this time you deserve to start getting some answers
Too bad it has to be Marfan's, even so, knowing what may be wrong should help you get proper treatment. You have come a long way and deserve to start seeing some real progress. Good luck and hang in there you are a real inspiration to us
Posted by tazmanian_devil (tazmanian_devil), 23 November 2002
Rhea, It's great to hear you feeling upbeat again. That was a nice thing you did with your hair. Marfan's sounds really scary, can you show us a good link to learn more?Here is a virtual hug (((rhea))) and virtual M and M's (I forget what they're called in Canada- smarties??) ...................................................................... Theresa.
Posted by rhea (rhea), 23 November 2002
Hi Theresa and Rich,
Thanks for the congrats. Im still happy to be working towards a diagnosis, although Im sure once this sinks in I'll have a few down days, but once I adjust to it I think I'll be alright. Having a name does wonders because now I know what type of battle I am fighting.
Theresa, here is a good page explaining Marfan's syndrome:
Thanks again guys for your encouragement and nice compliments. It really helps me get through the bad days, and celebrate the good days.
Posted by Helen_uk (Helen uk), 23 November 2002
hi rhea post us apicky of your new hair cut I am sure it will suit such a pretty girl.
I am glad you are getting some answers.
I too hope to get a proper diagnosis this week but when I asked him before he laughed and said Helens disorder as he has never come across this in such a complicated form.
Hang in there be brave and I am thinking about you
Posted by Iona_-Uk (Iona_-Uk), 23 November 2002
It's great news you've got a diagnosis. One of my friends whom I went to school with had Marfans and she's done loads of charity work. Se coped extremly well, I think a lot of it was done to good treatment.
Best of luck in getting there Rhea, you deserve it.
Posted by Netty (Netty), 23 November 2002
Can you imagine it, all those visits to OS's and and opthamologist tell you what you have. Unbelievable.
At least with the diagnosis you can begin to understand what your up against but I do feel sorry that you have to go through it at all. Is Marfans a hereditary thing?
Having your hair cut signals a new start in life and I'm sure your going to make a few sick kids feel great with your lost locks. I bet they look terrific. Take Care.
Posted by Tizzy953 (Tizzy953), 23 November 2002
This is so awesome that you finally have a good answer. I really hope the rest of the docs see it the same way. When is your other rheumy appointment?
I would love to see your new haircut. I have had short hair since 3rd grade. I am now 25. It is so much easier to do. It will take a little getting used to. The first time you wear something without sleeves, and you are so used to it touching your shoulders and it isn't there. It feels really wierd.
It is about time things started going your way. You so deserve it. Stay positive.
Posted by rhea (rhea), 23 November 2002
Thanks Helen, Iona, Netty and Kenzie for your congrats too! I have an appt with another rheumy dec 13th, but I REALLY DO NOT want to see another doctor, so I am putting my foot down with my parents. I figure my current rheumy is already figuring things out, and with the input of this opthamologist I should hopefully get an *official* diagnosis soon. So I am going to phone the rheumy I am with now, find out if she knows that my mri is in feb (she told me I'd defin. have it before christmas) and if she still wants it, (if not than I'll get in to see her asap) and get her to refer me to the pain clinic here. I was considering seeing another OS with a shorter waiting list for a scope on my left knee but I decided not to with this new diagnosis. If I do have Marfan's, that really complicates everything, so I think I should stick with the doctor I have now who I know is the best and who will know how to treat my knee prob with this new diagnosis. In the mean time I guess its homeschooling and crutching.
LoL, I'll post a pic of me and my new hairstyle for everyone. I look a lot different, and a lot older. Amazing what a new hair style can do LoL.
Thanks everyone. You guys and gals mean so much to me. It means the world to me to talk to you people because you understand!
Hope everyone is doing okay and being careful on crutches with the snow.
Posted by hmaxwell (Heather M.), 23 November 2002
While I'm very sorry about the diagnosis of Marfan's Syndrome, I'm so glad that you can finally name your devil and begin to fight it! And no one can tell you it's all in your head, it's related to growth spurts, it's hormones, it's overuse....all that crap you heard for years.
Just think about it this way: now you can take all the energy you've poured into fighting the medical system and getting your diagnosis into finding a treatment! I think you will probably be able to move mountains if you put your mind to it....
Best of luck and keep us posted.
Posted by Shazinoz (Shazinoz), 23 November 2002
Glad to hear you finally have a tentative diagnosis even if it is for Marfan's. Marfan's, EDS and HMS are all related.
Here is a bulletin Board for all Hypermobility problems including Marfans, in case you wish to post to others with Marfans.
and here is another
Hope these help. The echocardiograms are no big deal I have to have them about every years or so. I can also put you in touch with other groups for teens and sufferes of connective tissue disorders such as Marfans.
Just lete me know if you so wish.
Posted by Sheri (Sheri), 23 November 2002
It is good to know what you have finally. Two of my husband's brothers and a niece have/has Marfan's. (One brother is deceased, though.) It is a very complicated disease and does involve keeping up with all your doctor's visits and medications, but the good news is that it is manageable. Just keep up your health maintenance and do what your doctor's tell you and you can live a relatively normal life. Take especially good care of your heart, as this is affected in the same way as the joints.
I hope you are on the way to recovery now and will feel better soon. Also search the internet for support groups for Marfan's. They do exist, and it might help to be able to talk to others who have it. I know that my family (in-law) has participated in some research study of the disease, but couldn't tell you exactly how. It might be that their health is just being (or has been) studied by a group following the disease.
Go, ahead and see your doctor's. The quicker they get a handle on the situation, the sooner you will feel better.
Posted by wriggley (wriggley), 25 November 2002
hi rhea and folks,
i am so glad to hear you finally got a straight answer. At least now you know whats beentorturing you for years. One of my v v v good friends has marfans and he's 6'10". I call him a beanpole and calls me a smurf! There is a photo of us in the bar with him balancing his pint on the top of my head (ha bloody ha;) ) He thought this was the funniest thing ever as did my fiance who took the photo. Out of interest how tall are you rhea?
Anyway i'll stop babbling, i'm just really glad your finally getting somewhere!
Posted by Janet (Janet), 25 November 2002
It seems I've been following your saga to get an answer to all of your problems ever since I found this board almost two years ago. How great for you that you finally have an answer. It may not be one you were looking for, but at least now they will know what to treat and how to treat it. It must be such a relief! Keep us posted on what your rheumy says and what they do for you. Congratulations on finally having an answer!
Posted by Netty (Netty), 25 November 2002
I think everyone is interested in hearing more about whats happening with you. Please let us know soon whats going on
Posted by rhea (rhea), 25 November 2002
LoL, well I am not quite that tall LoL. I am 5'11, and yes quite skinny. Lol, speaking of bean poll, thats what my dad has always called me
Thanks Heather M, Shazinoz, Sheri, Wriggley, Janet, and Netty for your kind words and support. Last night I guess I discovered the sweet stench of reality. I keep waiting for all of these health problems to be resolved "so I can get on with my life". And well it hit me yesterday night, this is life, Im living it. From all of the research I've been doing, it doesn't look like there is a whole lot they can do about all of the joint pain as its due to the faulty connective tissues. So to think that life isn't going to improve as far as my body is concerned, is frightening for me. I always imagined myself living an independant semi-normal life...and that doesn't look like that is in the cards. But Im not letting all of this get me down too much. Im hoping to get an *official* diagnosis from my rheumy, and also Im going to get myself into the local pain clinic. See what can be done for the pain. And hey, with my new OS maybe at least the knee situation can be improved. Boy would I love to loose these crutches and turn the clocks back just even 6 months ago.
So, here's to living our life one day at a time, and not waiting too much on the doctors and lab tests to dictate life for us.
(((hugs))) everyone! And all of you on crutches, BE CAREFUL. Jeeezzzz crutching into the hospital from the snowy parking lot I just about got myself a free trip into the emerg dept.
Wet crutch tips+ tiled hospital lobby = nasty fall
Take care, and thanks again guys. Its nice to know so many people are rooting for me. It really helps me get through the dark days.
ps, thanks a bunch Shazinoz for those fabulous links.
Posted by Shazinoz (Shazinoz), 25 November 2002
Even with Marfan's you can still ive an semi-independat life once treatment and management start and get things somewhat under control. Once you start with the right/preventative/checking health checks, medications etc you can still hope for as independant life as possible, you can live on your own etc provided there is someone nearby that can help if things "flare-up" etc. You need a good support system (ie family, friends and medical team) and dare I say it you need to keep a positive outlook on life.
Good luck and here is hoping thigs are getting settled for you.
Posted by rhea (rhea), 26 November 2002
Thanks Shazinoz, M, and Sue. If I get this *official* diagnosis, I think that will help me come to terms with the devil Im fighting. Just to know what I am up against would be a wonderful thing. Definitly better than "living in limbo". And guess what I found out! There is a Marfan syndrome support group right in my city!! How great is that? Kind of funny since my city is relatively small at 56 000. So if this is confirmed, it'd be great to attend that group.
Thanks again everyone!
Posted by lbdeharak (Linda), 27 November 2002
Good luck to you! I hope knowing your diagnosis helps you to manage things better. I don't know where you live, but possibly there is some sort of pemanent disability program? I know that here Social Security will cut monthly checks if you can show that you are permanently disabled.
Wishing you the best!
Posted by rhea (rhea), 28 November 2002
Thank you for your congrats. Its funny how much a name helps isn't it? Like I still have all of these problems, but to actually get a name for it will be wonderful. I guess thats because it finally opens the door to treatment, support groups, etc, etc.
I live in Canada, and yes I do believe there is a disability social security thing available. Thank you for that suggestion. Im not ready to declare myself permenately disabled...well at least not until I have tried every single known treatment available. But it is certainly a good thing to keep in mind if things ever come to that.
I hope you are doing all right and hanging in there. Thank you again for your goodluck wishes!
Posted by wriggley (wriggley), 2 December 2002
A wee peice of advice for you about Social security and benefits. Linds is right, start looking into all that kind of stuff now IT DOESNT MEAN HAVING TO TAKE IT. This a voice of experience from someone who left looking into applying for stuff until i actually needed it which as some of you guys know was bloody stupid. The other thing is being registered disabled isn't a sign of giving up in fact it can be something you can beat docs and civil servents over the head with. You can always come of the register at a later date. The other thing is that the extra money can be used to make your life that little bit easier especially if you ever get to the point of wanting some independence because unfortunately everything costs money. But the important thing to remember is that it doesnt mean you have given
Posted by rhea (rhea), 3 December 2002
Thanks for your words of wisdom! Once we get a firm diagnosis pinned down (within the next 30 days or so) than I will be forced to face the music. I won't delay in taking action, I certainly don't want to jeporadize anything by waiting to long. I will get right on it.
Thanks a bunch!
Posted by SueJ. (SueJ.), 4 December 2002
I know I don't write that often but I've always followed your posts, and hopfully finally having a name to your health problems will help everyone to understand what your going through and that it's not in your head!
You've always been so supportive of everyone on this board, we are lucky to have you! Remember we are always here for you!!
I'd love to see a pic of your new hair do! That was a wonderful thing you did!
Updated Thu Apr 29 2010