Tuesday, May 5, 2009

Preliminary Diagnosis - Ehlers-Danlos Syndrome & FIbromyalgia

Sorry for the delay in letting everyone know what happened with the Rheumatologist appointment on Monday. I really was wiped out today after the trip and spent most of the day in bed to be perfectly honest. I am having a hard time accepting the news I think... So bare with me if this doesn't make the most sense ever or I leave out some details.

The preliminary diagnosis is Ehlers-Danlos Syndrome (EDS) and Fibromyalgia.

EDS is an inherited disorder that causes a genetic defect in collagen and connective-tissue synthesis and structure. It is also known as Hyperextensibility Syndrome. There are quite a few types of EDS and right now we are not positive as to which one I have. In order to know for certain that would require genetic testing and knowing the type doesn't appear to be necessary. EDS is characterized by (1) joint hypermobility, (2) cutaneous fragility, and (3) hyperextensibility. One estimate is that 1 in 400,000 people have some form of EDS from mild to severe. Some clinical manifestations that allow for diagnosis include many things from muscle weakness, muscle pain, tendency to fall down easily, poor body control, difficulty walking, bruise easily, joint pain, white and soft skin, underlying vessels are easily seen through the skin, skin has a doughy feel, skin is easily hyperextensible, molluscoid pseudo tumors form at scar sites and pressure points, fragile skin, poor wound healing, joints are hyperextensible, joints dislocate, skin scarring, skin scarring with hyperpigmentation, varicosities, early onset of osteoarthritis, nearsightedness, scars that stretch over time, and scoliosis to name just a few. The management and treatment for EDS is basically to protect the joints and the skin while treating the other symptoms as best possible for the patient.

Oddly it appears that EDS and Fibromyalgia occur together at a high rate of incidence... Lucky me.

If you want more information on Fibromyalgia I have posted about it before here on my blog so just check out the previous posts.

I am to see the Rheumatologist again in 1 month. The current treatment plan for this first month is to get me to regain restorative sleep. This means I get to start some new medications that will hopefully aid in getting to the restorative part of sleep. It also means that I am not to be woken during the night which we are trying to figure out with the dogs and the different schedules that DH and I keep. Another thing that the Dr. said is that there is no such thing as too much sleep for me right now. My DH isn't too happy about either of these orders from the Dr. but I do know he wants me to get well so he is trying to respect her opinion. I honestly think that if I could just wake up and feel refreshed and not still exhausted that things would/could be so much better.

I do appreciate that she is going slow with this and starting with the least dangerous medications possible. Also that she isn't trying to throw too many things into the mix all at once is a good thing in my book too. Yes, it might take longer to get me well this way but it should limit any potential issues that may arise due to medication problems and it should help us to see which things work and which don't much easier. Actually doing it in a systematic stepwise fashion could get me to feeling better faster than throwing a bunch of medications at me and praying for the best considering how many drug allergies I have and how they have a way of not acting as expected.

I know that I am not going to start feeling better overnight, and that I never will feel entirely well again ever. I am working on dealing with that and coming to terms with it. I need to get to a point where the pain is manageable and not all encompassing and I think that we can do that...


  1. I'm glad that you finally received some answers. I'm sure it's not what you wanted to hear, but at least you know what you are dealing with now.

    I was going to ask you if this is considered a disability and I looked down to see one of your ads say that it is and you may qualify for disability income.

    I hope you are able to get the rest you need.


  2. I'm sorry for the rough diagnosis. It sounds like its going to be pretty tough to deal with...but what a blessing to have answers and to not to have to go through more testing and more months of questions.
    I was going to ask the same question as Two Greyounds...will this make your eligible for disability? That would help take off some of the financial burden.
    We'll be keeping you in our prayers. Sleep well.

  3. I am sorry for the diagnosis, but it is always better to know and be aware of what your body is doing,forewarned is forearmed!
    My daughter has fibromyalgia also, and she is trying to get through the police academy right now. It has been very difficult for her.
    Best wishes for you, hug the puppies a lot, it helps!

  4. I'm glad you have some answers and the doc seems very reasonable. We just had sleep disorders in school and that is the beginning and end of it all. You need to get to a deep sleep every night so your body can regenarate & release the right hormones. I hope your hubby will understand when he sees that you are more rested in the mornings...

  5. I'm glad you're getting some answers. As you said, things won't get better overnight... but you're on your way.

  6. Like the others, I am glad that you finally have a diagnosis, as rough as it may be. I'm sorry the news couldn't have been better, but it sounds like you've finally found some health care professionals who actually *care*.

  7. Answers are the start. How you deal with them are the continuation.
    I have been sick since 1997. If you want to "chat" email me kaiminani@gmail.com

  8. Wow, that is a lot to deal with. At least getting more rest is something you can control and with your husband's help can make happen. I'm sure that over time you and your doctor will figure out the best treatment. I'll keep you in my thoughts and prayers.

  9. Sorry to hear the tough diagnosis. One positive is that you know more of what is going on with you so that you can work on getting better one day at a time. I hope you are able to get the rest you need so you feel better soon. Take care!

  10. Sorry to hear about your diagnosis, but at least now you know what's going on exactly. Several auto-immune disorders run in my family, and if I were to offer any advice, not that you asked :), but I would really look hard at all of the alternative treaments as well. My family has had huge successes with some of these. Good luck and best wishes!

  11. I never even heard of that one! My godmother has fibro, so I know that is very painful, but the other I never heard of. I can see why you are having a hard time with the diagnosis.

    I hope you have some improvement...And a good mattress..that makes so much difference in a good night's sleep.

    Keep us posted!


  12. At least you finally have an answer, even if it wasn't what you wanted to hear. Now you have the opportunity to treat it. I think it is a good idea to introduce medications slowly. If you have a reaction, it will be easier to pinpoint the cause. Good luck and rest up on your vacation.

  13. I'm glad to read that you've got a diagnosis, and can make plans for how to deal with it. It wouldn't surprise me if most of us are not getting enough good, healthy sleep (ridiculous modern schedules). Slowly down and letting yourself get all the sleep you need can only do good. Here's hoping the sleep and the medications have some great effects for you.

  14. I have just come back from the dr w/the suggestion that I may in fact have this as well. I am 32 and was diagnosed w/fibro a few years ago. It was a tough pill to swallow. I feel like I am just now coming to terms w/it & have yet to feel like it was truly under control. I am sure of one thing at this point & that is that I also will never feel totally well again. I am not sure what my next step actually is and would appreciate any advice you could give.

  15. I really don't have much advice to give. Over 3 years later and I still don't really have any answers or help from the medical community. I am wait listed with a number of specialists and hoping that once I finally am seen by them I can get some help.