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My mind was racing. The doctor’s weird questions continued for 10 minutes

Settling in for a barrage of questions from a new doctor, a common occurrence for me, those that came out of his mouth were not what I expected

“Your eyes are very far apart.” It was an unusual, and borderline rude, greeting early on a Saturday morning. My fingers were still tingling from the physical pain of entering my Pin number in order to lose $280 (Australian dollars – about €172) of my hard-earned cash to see this “specialist”.

“Thank you ... ?” I replied, not really sure what to say, as I took a seat behind the gargantuan mahogany desk that I probably helped pay for.

Settling in for a barrage of questions, a common occurrence for me with my vast history when meeting a new doctor, the questions that came out of his mouth were not the ones I expected.

“How old was your mum when she had you?”

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“Are you taller than your mum, or the same height?”

As a professional sick person, there is not one part of me that hasn’t been monitored my whole life

“Did you make it to the end of school?” (A simple “did you complete your education?” surely would have sufficed!?)

I answered these bizarre and seemingly irrelevant questions with one-word answers as my confusion grew deeper. The reason I found myself on a low-budget episode of Who Do You Think You Are? violently early on a Saturday morning was because I had recently been diagnosed with a severely underactive thyroid, almost landing me in a coma. So I was sent, urgently, to see an endocrinologist (hormone specialist) to address this issue.

According to my GP, this very strange man fit that description. Impressively he managed to not once mention my thyroid and possible pituitary dysfunction, as the weird questions continued to escape his lips for at least the first 10 minutes of the appointment.

After assuring him I had managed to finish school, was the same height as my mum and that she was only 28 when she had me, he led me over to the bed for a physical examination. The first thing he did was grab my hands and smoothen out the palms with his thumb, staring at them through a furrowed brow. At this stage my annoyance hit a new level, considering the extortionate price tag of this experience, and I snapped at him saying: “If this is a palm-reading, I’m not paying $280 for this!” In shock that a woman had the nerve to talk back, he released my hands and gestured that I sit back behind the ridiculously large desk.

No one could have predicted what was about to happen next.

“Your eyes are very far apart and you’ve got funny-looking lines going down your palms ... very unusual ... have you ever been tested for Down syndrome?”

Thump.

My jaw hit the floor in shock at this man and his notions.

As a professional sick person, there is not one part of me that hasn’t been monitored my whole life – and a condition as well known as Down syndrome MIGHT JUST HAVE POPPED UP.

My brain was racing – was I going to be the oldest person ever diagnosed with Down syndrome, at 24? Was this man a real doctor? Was I being Punk’d? Cos, right now, I would welcome Ashton Kutcher and his huge novelty cheque to make up for the consultation fee. But alas, no Ashton, just this man sitting in front of me, who must have got his degree from Clip Art.

“Ehm ... excuse me? I managed to choke out. “But I’m here to talk about my thyroid!”

With a dismissive wave of his hand, he continues. “Oh no, the thyroid looks fine.” Remarkable, since he’d shown no evidence of even glancing at my file, which sat closed in front of him. “I am very concerned about this, I’m going to send you for a chromosomal analysis blood test.” Cartoon birds chirped around my head as the bafflement grew stronger. If it wasn’t happening to me, there is no way I would have believed it could be real.

It goes without saying that I have no issue with the many amazing people who do have Down syndrome. However, it is one of the few diagnoses I definitely do not have.

This theory was only confirmed by the bemused blood test technician, who revealed that in her 17-year career in phlebotomy she had never done this test on anyone above ... 10 days old.

It took a month for the results to come back, and when they did, the negative result was quickly followed by a negative bank account, as the invoice for the chromosomal analysis test arrived to the tune of over $600 (€370).

This tipped me over the edge. I went straight into “Karen” mode and sent him an email saying I would love to see the clearly fake qualification he holds and that he had clearly made the wrong diagnosis! Amazingly, he still insisted he was right and replied saying he had a “high clinical suspicion”, as I had “severe features reminiscent of someone with trisomy 23 (Down syndrome) therefore, genetic testing is required”.

I have been dismissed at emergency departments with my dodgy lungs and ended up on death’s door mere days later

I googled, and it turns out it is trisomy 21 that is responsible for the presence of Down syndrome.

Eventually, after a month-long argument with the pathology clinic, I ended up just paying $150 ... which was still far too much.

Even though I have admittedly dined out on this story for the pure madness of it, it was a shocking experience, and doesn’t paint a good picture of some “medical professionals”.

This was not an isolated incident. I was told my tummy pain was “all in my head” at age 14 when, in fact, I had a 6cm cyst growing quickly on my ovary. I have been dismissed at emergency departments with my dodgy lungs and ended up on death’s door mere days later. I have to turn up to every medical appointment with my armour on, ready and willing to fight my corner, absolutely loving the extremely rare occasions where it’s not needed.

So, if you are a medical professional reading this, please endeavour to listen to your patients – we swear we’re not spending a fortune on private care and turning up to A&E for the craic.