My rare disease makes everyone an armchair expert — even doctors

Rare Disease Day, which this year fell on February 28, is one of those rare days when I pause and reflect on the good fortune I’ve had in being treated by people without whom I probably would not be here.

I was born with hypoparathyroidism, a rare condition in which the parathyroid glands either work poorly or are non-existent. These glands are tiny and are situated on the thyroid gland, so conversations about hypopara, rare as it is, often involve needing to explain the “para” bit of the condition.

How the heck does one get diagnosed with hypopara as an infant?

To uncover this particular story, I sought access to my medical records under Victoria’s freedom of information legislation and received the entire medical record covering 19 years of my life.

The late Dr David McCredie took charge of my case and ran a battery of tests to determine what was causing this particular infant to have respiratory trouble, shakes and the various other symptoms that come bundled with this condition.

It was discovered that my calcium levels were low — parathyroid hormone produced by the parathyroid glands regulates this in people without the condition — and all hell broke loose as a result.

That diagnosis by Dr McCredie was spot-on, and he was my paediatric nephrologist for 19 years. I dedicated my book on Crown Casino, published last year, to his memory.

I should at this point state that my case is what the experts called “idiopathic”. That means there was no known cause in my case.

Other people can get hypopara because members of their family have it. Hypopara can also be associated with another illness. Or it can arise as a result of surgery, such as somebody having a thyroidectomy.

Just imagine getting one problem fixed with the thyroid gland and then finding you have another condition for life because the parathyroid glands have been removed or damaged.

Having a rare disorder like hypopara has resulted in a lifetime of monitoring — as with most conditions — and also curious reactions from medical types, as well as people who enjoy imparting tips on healthy diets.

Hypopara is rare, and few medical practitioners see people like me during their careers. A general practitioner once told me that a GP in a clinic would be lucky to see one in their entire career.

Relieving GPs were stunned they had this medical collector’s item before them when, as a younger person, I would front up to get assessed for a seasonal cold or virus or something “normal” people get. They would end up performing the basic tests they were taught in university when they touched on the issue in their early training.

A drop in calcium levels also caused some other things to happen. I lost my voice for no easily explained reason during my secondary college years. The only thing that was really different was that my calcium levels dropped. Bingo! Another assessment of calcium levels and blood tests followed to make sure that such a thing did not occur again.

It is entertaining to listen to food and health zealots try to tell you what you should be doing to help hyperparathyroidism. I say “entertaining” now, but it took me a while to appreciate the humour in a situation that was at first somewhat awkward, puzzling, confronting and — let’s face it — not necessarily the kind of conversation you would expect in a workplace.

I vividly remember conversations over the years with people who professed that their particular diet would help with hypoparathyroidism and the endocrine system. Really?

What these good-intentioned folks forget is that when your parathyroid glands — the hardware — are stuffed, screwed and perform irregularly or not at all, because they have gone permanently AWOL, their recommendations are a pain in the arse.

What does help with hypopara is ensuring there is enough calcium and vitamin D in the system.

It has made me very wary about self-help gurus where diet is concerned, in much the same way that I am wary about general financial advice. Both require a specific diagnosis to be properly handled, not guesswork by people who happen to see you walk into an office with cheese from a delicatessen from the supermarket across the road and some flavoured milk.

Cheese and milk are in my case medication — a source of calcium — that I have on occasion had for lunch because I’ve felt the need for something. This is the other lesson. You need to listen to your own body when it comes to a rare disorder because there is nobody who can do that for you.

Social media is great for people with rare disorders because it has seen people with conditions like hypopara connect with each other. There have been Facebook groups over the years where people have sought support from other people with the disorder because they are learning to cope with symptoms.

Having hypopara has also tested my patience with religious tales of healing. My zero tolerance for the notion of faith healing and fairytales of healing the sick in ancient texts has grown stronger over the years because, frankly, the notion of “having a bet each way” is a waste of time and emotions.

It can take time as a young person to come to terms with the need to treat stories about the healing of the sick in biblical texts as just that — stories — and not as a promise that will be delivered just because it is written.

I am empirical proof of one thing: science works. And thoughts and prayers cannot beat the regular monitoring, blood tests, and correct medication to maintain a decent quality of life.