Hi there! FMS/CFS...now on top of a rare disorder

[DragonFireWalker]

I'm so glad that there is a support group forum here! I was diagnosed with FMS and CFS all in the same year of 2006. Just recently I found out that I may have inherited my mother's rare disorder Stickler Disease, but some of my symptoms are not as severe as hers.

Stickler Disease is a connective tissue disorder. Connective tissue is throughout the human body as a protein called Collagen and for some reason this genetic disease causes these tissues to degenerate. Many of the current cases with the legal diagnoses of Stickler's are due to problems with the eyes, hearing and major skeletal abnormalities. But this disorder has been thought to be much more elusive for quite some time now. It has been found that people with Stickler's vary so much it's like a spectrum of what a person may have problems with. Certain people have the eye complications, joints etc., while another may only have the joint symptoms! I few months ago I also found out I have Osteoarthritis, but with further looking into, he said I really had juvenile osteoarthritis since I was a teen due to the amount of damage in certain joints being only 36. This kind of problem is also very common in Sticklers.

The possibility of Stickler's Disease being the problem with my joints, jaw and neuropathy seems to be getting stronger over the years. But due to genetic testing not being covered by insurance, and by being extremely expensive, there is no way to get the formal diagnoses.

So personally, I do see my constantly worsening issues to be Stickler's positive with a strong possibility of being a type four. That pushes me to finding little information into why and what gene is causing the syndrome.

Like I said before, I am so happy to find this group here! Not many people know pain and fatigue like us. So I know I can get some good support with all my other challenges, such as the Stickler's. Being there are only a few groups out there but are not very active.

Ok..well thank you for having me! Looking forward to talking more.

 

[Dana A]

Hi DFW, I am new as well. Sounds like you have a long road ahead. I just found this forum and hoping to find some info about FM.

 

[DragonFireWalker]

Nice to meet you too! Do you have, or are wondering if you have Fibromyalgia? Boy, can I remember all the times I kept trying to figure out what was wrong with me! I kept telling doctors when all other tests would constantly fail that I believed I had fibromyalgia, until I finally got to see a rheumatologist.

Ya, sometimes I don't know how I can keep going when the times are bad. But I understand how important it is to continue to do the things you love no matter what. It can be so very hard just to do that, but with my chronic recurrent depression it is a must to live life better. I may not be able to do things full-time but at least I try to part-time in order to bring in more money besides my RSDI.

So what challenges are you dealing with right now?

 

[1sweed]

DragonFirewalker,
Nice to meet you and welcome to the forum. Most of us here are struggling with the pain and weakness problems that go hand-in-hand with fibro. But this forum provides us all with hints and ideas on coping with fibro so we can have better lives.

I never heard of Stickler's Disease. How did it affect your mother? Is it like fibro or more pronounced in muscle problems? I am glad through your struggle to get diagnosised you got to see a rheumatologist and get told about fibro. Now if you read lots of back posts you will gain plenty of coping skills and hopefully you can share some of yours. See you around the forum.