Pyroluria

[stephbg]

After a bit of a hiatus on the medical front, I've got something new to investigate.

Last month Family Member A told me that Family Member B was going to be tested for a congenital blood disorder called Pyroluria. It's a long chain of effects that eventually restricts the absorption of Zinc and B6, leading in turn to a shortage of serotonin. Good stuff serotonin, you generally want lots of it. FM-A suggested that she and I at least should also get tested because of a compelling match in the symptomology.

I wasn't terribly interested at first, as the link provided by FM-A went to a bit of an airy fairy site that focused on the link between this condition and depression. Further research from that kickoff point led only to more sites like that, or to more serious medical articles calling bullshit on that specific relationship. I pretty much decided to ignore the whole thing pending results for FM-B.

Well FM-B tested positive, and I dusted off the research, but this time came across rather more sane articles and I felt much more receptive to the idea. It really did seem like a good match (minor details such as "unable to tan" certainly seemed to fit, plus advice to avoid red and yellow food colouring), and the treatment of various specific forms of mineral supplements weren't that far off what I'd already been led to. The importance of Zinc was particularly striking, as Zinc was one of those things that made a huge difference back when I started it. I have a proven track record of being sensitive to different forms of medication so this interested me.

The test is only done through one lab in Queensland, and the wee samples are only collected and prepared by a single Clinipath lab in Perth. The supplements are also quite difficult to get hold of, and even getting a referral for the test seems to be extremely restricted. Sigh. So I asked for the contact details for the practitioner that FM-B saw, but then she raised the clanger that he was extremely busy and it might be months before I could get an appointment.

By this point a bit of my brain had become convinced that I not only had this disorder but that I was very likely to respond to treatment and would regain large parts of my old life. (The stats for positive response to treatment are really solid.) The pain would go away. I'd be able to sleep. Fatigue would be banished. My mind would be clear. It wouldn't undo the damage that's already been done, but it wouldn't flare up to bother me. I allowed my imagination to run away for a while, and enjoyed a fantasy future where i could get back in the pool and the gym and lose weight and grow MUSCLES again, while also getting back into house and garden maintenance and improvement. I could rejoin the Zoo and do regular long walks around the grounds as part of my rehabilitation. I could work again, and volunteer for Swancon and the stables, and make a costume and some sculptures, and TRAVEL and hike and CLIMB ROCKS and paint and dance and and and...

So yes, I got carried away, but I gave myself permission to do so for a while. It felt good; I often have periods where I can't even remember what it's like to be able to move freely, feel strong, or just not feel pain. So much for visualisation therapy, so I enjoyed the opportunity. But now I've let myself down gently to where I'm still hopeful, but have regained my usual wait-and-see attitude. It will be a minimum of months before I'll know anything for sure, even if I get things moving quickly.

It still looks like I'll need to become a patient of this one practitioner, but I'm not prepared to wait months! I'll have to start with my GP anyway to get a referral, but I'm going to try to get a test referral from him as well so I can at least get the testing underway ASAP. Couldn't get an appointment before lunchtime tomorrow, so he's really busy with flu season I suppose. This means a long wait on astonishingly uncomfortable furniture in a disease-ridden waiting room. I'll also be doing something I hoped I'd never do – take printouts from the internet to educate my doctor, because I doubt very much he'll be familiar with either the condition or the test. I shall have to do my best to convince him that it's likely to be a helpful investigation and hope that he's able to order the test himself. Even if the symptom match doesn't convince him the fact that a close family member tested positive to this congenital disorder should be enough. I hope he'll also give me the referral to the practitioner without quibble. If if if.

So, if I get the test referral tomorrow I'll still need to wait about a week before I can do it (yay, prep), and that will involve a trip to the city with a full bladder. Wont. That. Be. Fun. (With bonus possible public transport chaos, yay). Then a wait of 1-2 weeks for results, which apparently can't be sent to the patient so I'll need another GP appointment. THEN if test is positive try to source the treatment. If I do get the practitioner referral tomorrow I'll make an appointment for as close to the results as possible. THEN it may take weeks or months to see if the treatment is effective, so this whole business is going to keep me occupied for quite some time.

Bring it on.