Forum Replies Created
I hate that the doctor did not check for the other types of EDD or some other genetic disorder. Maybe you have types I/II or type IV. Can you order a 23ME test? You can get the test kit online. Maybe that can tell you more info about what genes you carry.
Maybe you have something different than EDS. What are your symptoms? …
Lab-Scientist-Lady – I think I can get the 23andME test but would it demonstrate I have a specific disease? Most reviews of 23andME talk about ethnicity, some mentioned things like the MTHFR gene but I’ve tried the supplements associated with correcting/helping this problem and have had no luck.
The specialist ruled out Classical, Vascular, Kyphoscoliosis, and the Hypermobility type based on clinical examination alone, again she was adamant. See another geneticist? It’s not as simple as that I’m afraid, between NHS failures, private practitioners demanding NHS referrals, and me being pretty ill I can’t simply visit a geneticist.
I’m by no means fixated on a diagnosis of EDS, I just want to know what’s wrong and to be able to have objective proof to show people, especially given that I’m house bound (bedroom bound mostly to cut a long story short), and my health is continuing to decline.
Can you tell us why YOU think you have EDS?
I don’t wish to publically list all my “EDS symptoms” but I’m happy to send a comprehensive email to you Dianna.
My questions are: Can I still have CCSVI, a Chiari malformation, or some non-EDS connective tissue disorder that presents a similar set of symptoms to EDS?
The next thing I was thinking about looking into is Mast Cell issues, as I have unusually strong allergic reactions to tiny amounts of dust/mould/unsure.
Thanks for the replies, it wasn’t an ordinary doctor, it was actually an EDS specialist (one of only two centres in the whole country).
Did either of you get your diagnosis through genetic testing? Which types do you have?
I don’t think another doctor would have much to say, I don’t have any significant hyper mobility.
The link is working now, thanks.
PS: I still can’t PM you though.
Here’s another fun link about medical students misconceptions (You would think these guys are suppose to be up to date on modern research, unlike some of the older generation of doctors).
“If the patient doesn’t agree and they think there is. . .something
actually physically wrong with them, then it is not going to work
‘cos they are not going to believe in it”
There is also a double standard where if a patient said that quote, they would be accused of stigmatising those with mental health conditions (Implying only physical illness is real), but it seems ok those in the medical profession to make this distinction.
Thanks for your reply.
Yes I had very severe Gastroparesis/constipation issues and the most excruciation pain I’ve been in during those attacks (felt like my insides were ripping apart). I’ve been ill a lot longer than two years, duration of my illness depends on which symptoms we’re looking at. I’ve never self diagnosed as having POTS, but like I said I have the heart rate signs.
Looking back through my notes it seems laying on my sides helped during an attack but doesn’t make it go away.
Interesting that you mention histamine, I found out that an anti-histamine I was taking triggered these attacks in a reproducible fashion, which was disappointing because for a while they helped a lot. I suspect I have mast cell issues but the doctors where I live are not fans of testing beyond a few basic bloods. Doctors in the UK are strictly told these (FM/ME/CFS/IBS/MUS) are psychosocial problems, with psychological answers. They all seem to make the grave mistake of thinking idiopathic illness is psychosocial by default, they need to be retaught the scientific method (assuming they ever learned it) and be made to practice these three words, “I don’t know”, as some of them seem to think a psychological answer is better than no answer.
This is the kind of research they favour:
They ignore sudden onset POTS, also check this out:
“POTS is a syndrome that is diagnosed far more frequently in young and middle-aged women than men, and by the time of definitive diagnosis patients have typically spent several years seeking expert medical opinion for their symptoms. Frequently, these individuals report a distant flu-like syndrome followed by a period of inactivity, followed by more inactivity in response to the unpleasant sensations they have while standing or doing mild physical activity. Thus, a downward spiral of inactivity and deconditioning occurs. This downward spiral can be made worse by related perceptual issues including somatic hypervigilance and fatigue that can be improved with exercise training (Benrud-Larson et al. 2003; O’Connor & Puetz, 2005). However, when these individuals seek medical advice their responses are seen as abnormal and frequently pharmacological treatments are prescribed (Joyner & Masuki, 2008).”
Basically saying: You’re merely paying too much attention to pain signals, and that you’re not really as ill as you say you are, no evidence or objective test for this “somatic hypervigilance” offered, of course, but who needs evidence when you have dogma?
I could go on & on about poor or misleading research.
PS: Why can’t I PM you? I have important (not to mention private) things to say. You are so hard to get hold of.
“The inboxes for the following members are currently full, and to send this message you must remove them from your Recipients or CC fields: Dr. Diana”