Aah - I couldn't remember the genetic grouping for the life of me. Twas interesting though that the genetisis doctor I was referred to for this - determined the Elhers-Danos for me and gave me some good ideas. I guess there's an advantage to being sick for a while - you get to go down all sorts of pathways! I sincerely hope the "get well" cheese is at the end of the maze for you :)!!
Hi - I have googled Gaucher Disease and unfortunately the questionnaire does not cover the South African vicinity. It really pays to share your concerns with other people on these forums as there are always suggestions that might just put you in the right direction. Thank you again for your sound advice and yes, I will keep you posted with the opthamologist outcome.
You go well and take care always
Also, you can google Gaucher Disease. At the main research place for it, in Philladelphia, the nurse does an intake over the phone. If you fit, there's a good chance they will help you, even if you don't have funds. They have a sponsorship of some kind and a lot of enthusiasm. If you can't find the place - let me know I'll dig it up from my records. It's free to google, it sounds like it might fit you :).
Ida, sounds like a plan! Make sure it's an opthomogolist, not optometrist if you want to check for eye diseases and health (spellings?). I don't know why depression is used as such a weapon to dimiss patient complaints no matter how irrevant a diagnosis, so it's unfortunate that you had to deal with this. If the neurologist is will to refer you - and it's paid for, then you can check out that psych's repuation and if it's okay, you might do better getting a non-depr diagnosis from the psych. Thank goodness the anti-imflamatories are working. I'm sorry you have to wait for a new year to be able to pay for the medical care you deserve. I wish you could get it now. Good luck! If you have more questions - don't hesitate to post :).
Thank you both for this informative and reassuring information.
MRI is hard to come by when you have a diagnosis of Depression from the Neurologist and he has fw these findings onto your GP. From his report she is now determined that I need to go on at least another 3 months of anti-depressants as she believes the bone pain is a symptom of the depression. I have told her that I no longer need the anti-depressant as the anti-inflammatory is doing a wonderful job of relieving the bone pain, it has even reduced the number of migraines with severe eye pain I get lasting 2 - 3 days. When mentioning this, she was totally taken aback and said that she could refer me to a Psychiatrist who could give me the anti-depressant designed especially for me - makes me wonder what the Neurologist told her? She also mentioned that I should see a speech therapist regarding my speech slur.
Anyway, this is my plan of action - now that I have temporary relief via the anti-inflammatory, I will see an optometrist to rule out any eye diseases and to help with the blurry vision and watery eyes. I will then also see a physiotherapist to assist with any spine related problems which might be causing the leg/bone pain and next year when I have medical funds available (as the Neurologist used them all up for his depression diagnosis), I will seek a 2nd neurologist's opinion and make sure that he has no recollection of any of the history I have given to the most recent neurologist and GP. And for now, I will just try not to walk into things, break all my crockery and keep awake whilst driving.
Thank you both
Take care always
IDA
It doesn't sound like FM/CFS types of pain. There's a condition, Gaucher Disease who's hallmark is bone pain and fatigue and spleen enlargement and is treatable. There's a lab test for it and a genetics doctor is who would diagnosis it. These symptoms are too distinctive for them to start giving up so early on a diagnosis.
The dismissal of your doctor by deferring only to the depression, and your other doctor by not persisting in a diagnosis so appropriate treatmetn can be used, is not the most helpful.
The field of neurology is very large and I find neurologists tend to know their own areas, so exploring with some other ones, especially at larger teaching hospitals, might give you more.
Thank god your cancer testing came back negative. That's a real plus. Your bone pain does NOT sound like Fibro...at least in MY opinion and like you know what, everyone has their opinions.
There are several things your doctor should have tested for....Lyme Disease, Multiple Sclerosis, being two that come to mind. An MRI would show if you have any pinched nerves in your spine, which could also cause leg pain. Have you had an MRI? If you haven't, I would insist on one. With and without contrast dye.
Their is also a blood test that can check for inflammation in the body. It's called an ANA. Make sure that your doctor has done this test. Mine came back as a positive "titer" with a reading of 1.60. Since I have MS, this is not at all unusual. I was also tested for Lyme Disease, which at that time came back negative. Last year, I WAS bitten by a tick that carried Lyme Disease, but was treated for two weeks with antibiotics. I was lucky I had a quick, smart doctor on that one. Don't need Lyme Disease on top of MS. Having Fibro on top of this MS is bad enough. Your Epstein Barre virus makes me suspicious. It can have lasting effects many years down the line.
Please keep us informed. Please ask for those tests I spoke about, above.
Best Wishes, heather