Rare Diseases Day

‘We have a diagnosis’ –

It’s 5.30pm on a Tuesday. The geneticist and I have been playing phone tag between our busy work schedules and we’ve finally caught up with each other.

No beating around the bush – ‘We have a diagnosis’ he says.

It’s the words you never think you’ll hear. The words you kind of want to hear, but also don’t. An end to so many questions, but the start of so many more. I’m speechless.

My eldest daughter is 4 years old when I receive this call. She made me a mother, a job I first set my sights on when I was about 4 myself! I love her so much I feel a physical pull in my chest and parenting her has been a wonderful, beautiful journey. But it has also been one of grief, loss and sorrow. She didn’t feed like other babies do but no one could understand why. Faltering growth, recurrent infections, developmental delay. She still doesn’t really talk, has some issues with her eyes, her tone is a little low and there’s a few other ‘atypical’ features. So the question of whether there’s something that links them all together has been raised… but we’re also in denial. We’ve been living with the hope that it’s an isolated speech condition and by the time she starts school we will have forgotten all about it. Maybe all the other things are just a mere coincidence. We’ve seen umpteen medical specialists and allied health therapists. We’ve done so many tests- genetic and otherwise. Almost every time they produce weird findings – ‘variations of uncertain significance’ for people in the know, but never an ‘answer’. I thought this time would be the same…but it’s not.

He continues: ‘It’s something extremely rare…there’s one paper of 70 participants…and about 300 known cases worldwide. It was only discovered in the last 5 years’.

The rest of what he says I don’t really hear. Random letters and numbers. Something about mutations, exons, proteins, histone complexes.

I hang up the phone. Here I am sitting at the desk in my GP consulting room after a long day of listening to others, making my own diagnoses, consoling them in their grief. I’m the last doctor left for the day. I burst into tears – proper ugly crying heaves, the kind that should only be reserved for the bathroom floor but I am overcome with a strange mix of grief, relief and fear. I did not see this coming.

The next few days are a blur. Having to break the news to my husband and members of our family and close friends brings up more questions. I trawl the internet in the night hours trying to find their answers.

What does it all mean? What will her prognosis be? How does this change things? My brain is in fast forward – what will her future be like? Will she get a job? Drive a car?

Have children? I feel so alone with this new knowledge and these questions – it is overwhelming.

My research leads me to a global facebook support group and a foundation website. I find another Mum whose child was the first person diagnosed with this condition in Australia. My journey of being a Mum to a child with a rare disease has begun.

28th February every year is Rare Disease Day. A day dedicated to the 300 million people around the world living with a rare disease (a disease that affects less than 1 in 2000 people).

Approximately 8% of Australians (2 million people) live with a rare disease. Around 80% of these are genetic. The complexity of these conditions, the fact they are rare, and difficulties accessing genetics services and genetic testing mean that it is often many years before a diagnosis is made. But this is a changing area. Genetic testing is becoming more widely accessible over time, as is what can be tested for.

We are taught in medicine that if you hear hoofbeats coming think horses not zebras. But many zebras together make many hoofbeats, and as genetic testing is more widespread, more and more conditions will be discovered and more individuals and their families will finally be provided with answers.

So for the healthcare professionals among us, don’t forget about the zebras.

And to my fellow parents of children with a rare disease, or those living with a rare disease – we see you. It can be a long and difficult path – both to diagnosis and beyond it. But you are not alone, and there are also so many rewards.

For me, I would like to think this experience is making me a better doctor, a better GP, a better person. I now realise the pre-conceived ideas I had about ‘disability’ and ‘inclusion’, that there actually is no such thing as ‘normal’. I’m learning a lot about acceptance, about celebrating all the wins, however small, about equity. My incredible daughter is teaching me every single day about courage, about determination and about never giving up hope.

For more information/support visit:

Rare Disease Day:

Rare Voices Australia

SWAN (Syndromes without a name):