The SPECIALIST'S OFFICE => Joint hypermobility disorders => Topic started by: rhea on December 20, 2002, 06:47:20 AM

Title: Hypermobility. How to get a diagnosis?
Post by: rhea on December 20, 2002, 06:47:20 AM
Hi Everyone,
I was just wondering what steps you all had to go through to finally get a freaking diagnosis?!?  It took 4 OSs to get my knees diagnosed (maltracking) and treated (but now Im on a looooong waiting list for surgery).  Now to get the rest of me looked after is also getting more and more complicated.  At first my naturopath and an occupational therapist were sure I had rheumatoid arthritis and so from there I went to a rheumy who did millions of tests.  While waiting for the results of those tests I saw an opthamologist who was certain I have marfan's syndrome.  The tests came back ruling out autoimmune and inflammatory disorders and my rheumy came to agree that I have something along the lines of marfan's syndrome or EDS, so she is reffering me to a geneticist.  Now I am hoping that this geneticist will be the final doctor in getting a diagnosis that will draw all of the puzzle pieces together.  Am I finally at the right doctor? (I haven't recieved an appt with the geneticist just yet.)  Who ultimately diagnosed you?  

Thanks everyone for your words of wisdom on this journey towards a hopefully correct diagnosis.  

(((hugs)))  hope you are all hanging in there....

Title: Re: How to get a diagnosis?
Post by: Shazinoz on December 20, 2002, 07:11:33 AM
1stly when seeing a geneticist you need all the family history you can get even simple thngs like miscarriages, pain etc.
try then click onIndividuals and Familys then on Family Helath Tree Guide for and idea on how to go about this (the more information you take with you the better). Try to get copies of any all ALL medical records as far back in your life as possible (right down to birth and infant records if at all possible), Marfans and some EDS can be diagnosed by biopsy (and others are based on symptoms and eliminiating the ones that have biopsies).
Look up EDS and Marfans and look under Diagnosis this will give you an idea of the criteria for each of the disorders.
Then I hate to say it it is a case of HOPEFULLY getting a doc who knows enough about the disorders and is willing to make a diagnosis (my diagnosis is still pretty much up in the air with nothing but a Genetic hereditary connective tissue hypermobility disorder (HMS for want of a better name) and no one seems willing to look into it further even though we are pretty sure it is HEDS (old EDS3).
Hope this helps a little  Rhea, and good luck in you quest for a diagnosis.
Title: Re: How to get a diagnosis?
Post by: SL99 on December 20, 2002, 02:51:03 PM
Hi Rhea,

Seeing the geneticist was certainly the trning point for me Darl, so I hope that you are on the right track towards your eventual diagnosis and management now too.  :)

Again, I can only echo what's been said before in be prepared for the appointment with a family medical history, personal history and perhaps a list of the things that particulalry concern and trouble you as it can be easy to forget inportant factors in the emotional overload of the consultation - I know I did as I was not given any idea what to expect from the meeting with the clinical geneticist.

Don't be scared to tell them what it's like for you and how it affects you, make them realise that although it's just a case for them it's life for you. And be prepared yet more tests etc coming from the initial consultantion...I'm still waiting for some of mine to materialise.

Above all Rhea, the bets advice I can give is to stay strong and positive and beleive that this will help.  :)

Hope you are doing okay and feel free to chat if you need to. Take care.

Love and hugs......Jo  :)
Title: Re: How to get a diagnosis?
Post by: Helen_uk on December 20, 2002, 06:09:03 PM
Hi rhea I hope you and your dogs are ready for crimbo, and that you are ok.
Sometimes you dont get a diagnosis but lots of componants my surgeon says it is ahrd to give a certain diagnosis for me and maybe I just have to settele for being duff????? So long as you get the right meds and treatment that works for you a diagnosis is just another label. good luck and kleep your chin up.
H xxx ;)
Title: Re: How to get a diagnosis?
Post by: wriggley on December 21, 2002, 06:29:20 PM
hi guys

this one has a personal interest for me too. I think i have more dodgy jeans than Levi and Wrangler put together!!! ::)  i will need to see a genetic councilor if i decide to try for kids. this is what ive got:-

im colour blind
i have a type of epilepsy that is usally inherited
my dad is a haemophiliac
and last but not least all those lovely joint problems

so as you can see im a bit duff too. There gonna have loads of fun untangling that lot!!! ;D ;D ;D

my friends joke that if when i die i donate my body to medical science the doctors would think it was a 3-D jigsaw!! lol


Title: Re: How to get a diagnosis?
Post by: rhea on December 21, 2002, 10:48:33 PM
Thank you my oddbod pals for all of your words of wisdom! I've got a history all made up from my visit to my 4th OS.  I hope I am on the right track here...  I still have not heard when my appt with the geneticist is or where I am going.  I hope at least that I won't have to wait a LOOOOONG time to see one.

Thanks again for all of your advice!!

(((hugs))) and christmas cheer to my fellow odd bods

Title: Re: How to get a diagnosis?
Post by: Iona_-Uk on December 23, 2002, 06:27:04 PM
Hi Rhea

I really do think this will be the turning point for you, remember to ask all family members if they have joint pains etc.

I've not seen a gentic specialist but whilst going through my various specialists, they all say "thats something that is usually inherited", so it could well be that this will provide the answer you need.

Good luck
Iona x
Title: Re: Hypermobility. How to get a diagnosis?
Post by: PiercedPrincess on September 02, 2005, 04:49:50 PM
I am kinda glad I ran into this page while I have been looking around. This is what I do know:

Many women in the family have had disorders such as Spinosys, spurs and arthitic matters.

A few men in the family have also had arthritis problems and many other things from diabeties to heart problems.  Women anything from heart problems to thyroid problems.

While I have never really broken a bone, I have had multiple dislocations (as well as my mother and grandmother and an aunt and sister).  Much of the time it is a problem I can remedy myself, however there have been occasions of ER visits.

My problem is this-I am not insured and I hear that testing and other forms of medical treatment can be costly. I have no where to start and I because I make a ew dollars more, I am cannot recieve benefits from government institutes for help.


However now I know what to start preparing for when and if I can get money and or insurance to help find out if there is really something more than just "Flexible joints"