Diagnosis

Okay, well I thought I ought to begin at the very beginning- when my parents were told I had Pseudoachondroplasia.

Mum had already noticed that I wasn’t the typical toddler, climbing over furniture and running everywhere, yet put it down to my nature and the fact I was a calm child. However, when she noticed that I was frequently getting pain when I had bent down and would struggle to get back up again, I was taken off to the GP. The problem was, I wouldn’t necessarily be in pain during that doctors appointment, and although more than one doctors appointment was booked, and a doctor was called to come see me at home once (or twice? I’m not sure, I can’t remember this myself), there were no visible signs to the medical professionals. So, this meant, in their eyes that there was nothing wrong and my Mum was a neurotic mother! Or was she?!

I’m not entirely sure in what order everything after this happened… but eventually, after getting the doctor to recognise that there were unusual patterns developing in the way my body worked (that I would get pain whilst bending down and I couldn’t walk as far as other children could), a misdiagnosis and many tests and x-rays, at three years old, I was diagnosed with Pseudoachondroplasia.

Being told that their daughter would be shorter in stature than her classmates, would suffer pain in her joints from a young age, and would require surgery later in life to correct bone deformities must have been quite a shock for my Mum and Dad. Being their first child too, parenting itself was a new adventure, let alone bringing up a child with a physical disability!

My parents were told that I had a ‘mild’ case of the condition. I have since been told there is no such thing as a ‘mild’ case. Yet I have read articles saying that in fact, there is such a thing. Either way, I have Pseudoachondroplasia. I am one in 30,000! 😉