apinecone

[Quick regards+support to Ruth, but if she wasn't kind of 'low' maybe I might probably would not be chiming in ]

I have a similar plight as you, and have been doing some research and found out some things about how the various 'overlapping' symptoms and the underlying biochemistry/pathology inter-relate. The whole background obviously would take books and as you know even then the docs aren't really sure or clear about this all, and it takes some writing here to provide enough background for my 'answer' to your questions, but please bear with me, because I think eventually this gets to a reasonable 'explanation', although maybe not an "answer".

Anyway, much of the 'evidence' of the 'genetic' basis of these 'disorders' is based on tracing its progression in family 'lines' or heritage, and if there is a correlation, it is called 'heritable'. When genetic materials are precisely isolated and the specific biochemical anomalies explained, THEN something can be said without question to be 'genetic'; otherwise it's 'heritable' (a 'scientific' basis can be said to have been established if eg: through studying families with certain propensities and examples in the public health records, a consistent pattern of heritability is found), and the nature of correlation of a 'disorder' with your family heritage is the next closest thing to this hard-core genetics-based Dx.

This is good, actually great! from a Dx point of view, because now a particular 'disorder' can be Dx'd pretty accurately IF (a) heritability can be established [hence, the requirement to check into whether and how the 'disorder' might be expressed in your heritage], and (b) the 'disorder' can be traced to your childhood or whenever it 'normally' "presents" itself [for Tourette's Syndrome, for example, there's a graphical relationship between age and when Dx'd symptoms first presented themselves in the patient, which is typically adolescence; the accuracy of the Dx is 'reinforced', so to speak, when a patient's presentation of symptoms fits into 'norms' that are established for a given 'disorder' by extensive studies at the public health level. Also, if heritability for a given 'disorder' tends to the male side, which most in this area do, then perhaps 'it' can be further correlated with a particular gene [which, as a matter of fact, is the one which a number of other analogous pathologies have been traced to, when actually isolated].

But, alas, a signficant likelihood exists that any particular person's symptoms and ability to determine the above does not result in a 'certain' Dx. This is because of a number of reasons, eg: people's 'symptomatology' doesn't fit clearly into any or precisely enough into Dx norms; in some cases even the norms are not well-established [because they've been 'discovered' only recently or because the results of various studies are conflicting]; sometimes it is hard to correlate a patient's case specific criteria [don't know exact family history; don't remember childhood or don't have med records; pdocs didn't Dx know about the 'disorder' at the time the patient was young (very typical for us baby-boomers); docs didn't pick up on it when it happened to you or mis-Dx'd it; etc.].

Man, we're getting pretty iffy at this point, aren't we? Well, as Walter Cronkite used to say: "and that's the WAY it is!" BUT, fortunately we humans can put together the whole picture from a relatively limited pattern, something like doingn a jigsaw puzzle or a Lego structure: if enough 'pieces' can be put together, then a particular 'pattern' might be discernable and considered to be a Dx. Unfortunately, the 'patterns' by which several related psychological 'disorders' of the kind we're talking about are Dx'd involve 'overlapping' symptoms. (More buts BUT certain combinations can 'rule out' certain 'disorders', although this can be tricky to establish [some pdocs try to do this by trying an Rx with a presumption that if it 'fails' to have a certain result, then it implies that something is either 'ruled in' or 'ruled out'; well, we humans are also prone to do 'trial and error'; it's just that 'errors' in this case can be pretty devastating, so BTW!].

Let me give you an example: ME. I have Dx of [Adult] AD[H]D [Inattentive]; the various notations are qualifiers that indicate a specific Dx "branch". This Dx has been made after checking out/ruling in/out several of the related and present symptoms like anxiety, depression, obsessive/compulsive/tic symptoms, etc, based on screening and blood testing and reasonably well establishing heritability verification (dad and son fit the bill but not Dx'd), etc. Because of some symptoms, it is prudent, shall we say, to establish "anti-seizure"/'mood stabilizing' [for possible BP] Rx before attacking ADD side through stimulants. No harm: Check the box. Start mild stimulant/anti-depressant, continue previous Rx. No harm, somewhat beneficial effect: Check the box. OK!! So, it IS ADD and NOT BP!! Yea!!! Continue Rx.

Well, whoops, some events occur that lead to the additional Dx of "PANDAS", the symptoms of which significantly overlap ADD, BUT: it is not inherited. So, now we have a dilemma, in that MAYBE whatever I have is NOT inherited. Problem: the "un"inherited Dx branch would seem to 'rule out' other 'disorders' that are 'heritable', wouldn't you think? So, what to do? [huddle, huddle, 2nd opinion, 3rd opinion....] Well, MAYBE, since IT IS POSSIBLE TO HAVE >1 'disorder'!! Hmmm....

My point is that even a very careful Dx without a 'smoking gene gun', so to speak, might not be the 'right' Dx. And, worse, there may be no way known to 'rule' any particular 'disorder' in or out but maybe life can be somewhat better, and maybe the Rx for PANDAS in my case would be the same as otherwise (which it is), so it's probably OK to just keep on truckin!!

But now consider this:: pyroluria has overlapping and possibly better correlated symptoms, and, although that is discernible with a common and inexpensive urine test, it is heritable and does not rule out ADD, BP or schizophrenia [ohoh! ruled back in!! ], etc., which are thought to be heritable, or PANDAS, which is not.

Getting tested for pyroluria is a no-brainer, right? Hmm...

Well, you tell me what you would infer based on either outcome?

I know; it's not fair to answer your questions with a question. So I will forge ahead just a bit further.

"weird recessive thing?" "if its not genetic, why do i have it?" "can the schizophrenic gene mutate into bipolar?"

If you can fall into the pathway of my Dx at this point, then we're both in this together!! If not, then I (or anyone) would need to put together enough pieces of symptomatology to see if there were either a 'smoking gun' or enough of a likelihood that you have one 'disorder' or another or >1. I know that's not very satisfying, but I think it's appropriate, given the situation. Anything else would be speculation, which might be harmful, and the FIRST thing in Dx/Rx is not to cause HARM. So, one step at a time, try to put the pieces together as best you can, be patient/don't freak out/don't do yourself no harm, try to mitigate your symptoms as much as you can (study study study!!), and so on. Oh yes, and keep on networking!!