Hi,
I have Marfan's syndrome but was having more problems with my joints than the usual patient so my doctor did blood tests for RA and various other related issues. They didn't find any problems with my joints so that is more than likely all down to wear and tear but instead, they found that I have very high enzyme levels relating to the mucus/sweat gene.
Is the enzyme test sufficient to make an accurate diagnosis of Cystic Fibrosis or should I insist on a sweat test... I don't like asking a doctor for further tests, as I would assume they would request it if necissary and tend to get upset thinking that you are questioning their abilities but I have found that some doctors tend to close the book after the first positive test result while others insist that, for example with the MFS dx that I should have had further tests done.
Althoug I understand that MFS especially, is very difficult to pin down and that not even gene tests is always accurate, but it is quite frustrating.
If you have any advice, I would be very appreciative.
Could you also explain to me what the difference is between a Diagnosis and a Clinical Diagnosis?
Thanks in advance
Andre T. Dreyer