And we are go for Pyroluria
Was fortunate last week to pick up a cancellation so was able to see Dr Nigel (psychologist) this morning, rather than wait another two weeks, and he gave me my Pyroluria results. In a nutshell, I unambiguously have Pyroluria: where Normal is <10 and Elevated is >15, I have 24.9. So what happens now?
I was pleasantly surprised by Dr Nigel. Although not a medical doctor he's clearly done his research and is very familiar with the condition, its symptoms, associated medical tests, and treatment options. Just because someone doesn't have a medical degree doesn't mean they can't make a valid contribution, and I felt more helped just today than in half a dozen expensive specialist visits.
He also helped in that he asked the sort of questions I've been hoping doctors would ask me. Rather than have me attempt to recite a potted medical history (for which I wasn't prepared - see not-that-kind-of-doctor), he asked me if I'd had a variety of tests done, or seen sundry specialists. I rambled a bit here and there, and he directed the conversation to the aspects most relevant to the condition. It was great. Many of the tests I didn't recognise or wasn't sure if I'd had them, but it didn't really matter because virtually everything comes back within normal range. It was such a bloody relief to be talking to someone who knew more than I did about something like this. He did warn me, however, that I really do need to be an expert on myself, and not to trust anyone else to know better. Oh well, there goes a dream.
One of the tests he's suggested I get is a Plasma Volume test, basically to see how much blood I've got. Given my history of icy extremities he was surprised that I'd never had it done. If I had, I would have remembered - it involves drawing some blood, adding a radioactive tracer, then injecting it back in and timing how long it takes to travel around my body. When I mentioned that the last Physician/Diagnostician I'd seen had ruled out any kind of circulatory problem I was treated to some sympathetic eye-rolling. I know he's a psychologist and therefore professionally sympathetic, but it was nice. Not sure what happens after the test, but that's not his bag. It's a clue; I'll take it.
The other tests he strongly recommended I get are DHEA and an IGA marker test. The latter can apparently invalidate the results of other tests for coeliac disease if not well into the normal range. He seemed very keen on chasing coeliac disease and that was where I have to say my opinion differed to his. I can eat bread and pasta, after all, and have had the colonoscopy to rule it out. Several people have mentioned Copper testing today and I've always wanted to get Manganese done, so I'll see if I can get that done too, if not a full hair mineral analysis. My GP Dr Greg has previously refused to authorise that kind of voodoo nonsense, but it's worth asking again.
So tomorrow I have an appointment with Dr Greg to see if I can get started on at least some of those tests, but I'll be taking the results to see new GP Dr Jocelyn who apparently believes in Pyroluria and frankly can't be any worse than the pleasant-but-uninspired Dr Greg in managing my chronic illness. I've been wanting new opinions for some time, but now I've finally found some candidates. If Dr Greg won't authorise the tests I want, I'll ask Dr Jocelyn. I'll make an appointment with her once I have a better idea how long it will take to get whatever tests I'm able to get tomorrow. I'll also bring forward my next shrink appointment with Dr T to keep him abreast of developments and talk about melatonin. If things go well I'll be reducing some of my antidepressants (fingers crossed) so will need some hand-holding there.
Treatments for Pyroluria focus primarily but not exclusively on restoring B6 and Zinc to the system, so to start with I have some B6-heavy B group complex (1/day) and some Pyridoxal 5'-Phosphate (P5P) (2 x twice per day), which is a precursor/activated version/something something form of B6. I've also got some Manganese Piccolinate (15mg per day) to go on with, and I'm to stick with the current regimen of Zinc and Magnesium for now. The practice did have some of these in stock, but he encouraged me (most emphatically) to source my own direct from the distributor and supplied an order form. Dr Nigel had no desire to be seen as part of some kind of pyramid scheme. I was also impressed at the number of books he consulted in response to my specific circumstances while putting together this start of a treatment plan - he certainly didn't pull anything out of his arse. Which is nice.
I took the first dose of everything when I got home, and without any kind of surprise I did feel the familiar B-group nausea a couple of hours later. When I spoke to Dr Nigel on the phone later about that and some conflicting numbers in the notes, he suggested to give it 3 more days of 1 per day (morning, with food), then call him on Thursday to review.
I've also got some other things to research on my own: B3 Niacinamide, and some other supplements that he warned were more pyramid-like, and indeed a quick google on them turned up more references to "age-defying properties" and such than, yunno, science. For future reference: Cellgevity, Maxgxl, and ATP by Max International.
I enjoyed the consult on another level, although with the information overload it took a while for that appreciation to filter through my consciousness. It felt good to bitch about the medical hoops (and mainly dead ends) faced by someone with chronic illness like me. I've seen plenty of evidence for it in online communities, but there's sometimes nothing quite like one-on-one face-to-face attention. I believe some of his interest comes from personal experience with the condition, possibly a son. But I think he can help me with some actual psychology too, which was a bit of a surprise. I have a lot of frustration with the medical profession, and I'll be the first to admit I've not applied all my precious energies to beating my head against a brick wall investigating possible causes and cures by meeting with as many doctors as possible, as often as possible. I've also looked at so many things over the last two decades so have not been inclined to pursue old avenues again, but it's time to figure out exactly what's been holding me back and take a fresh look. It's going to be hard on me no matter what, but perhaps it can be made slightly less hard around the edges.
I haven't really explored that last idea properly so might need to have another go at it later. Tired now, but now I have a (cunning) plan to be going on with, and someone knowledgeable that I trust to provide moral support through whatever happens over the next few months. Succeed or fail I'm going to have to make some adjustments.