The week before Christmas a letter arrived from one of Tilly’s consultants. It summarised our conversation from an appointment we’d had a couple of weeks before and mentioned a condition which he thought Tilly could have. Nothing new so far.
We’ve had countless letters after countless appointments and countless suggested diagnoses.
By this stage in Tilly’s illness I’ve learnt there’s no joy to be found in Google searches. I’ve read every paper and seen every directory of ‘all childhood rashes’. Weirdly, Google isn’t able to provide an answer where several Drs with years of experience can’t. I know that. But there’s this possible answer staring at me and I have to know what it means. So I turn to Google. And the first page which comes up, halfway down the first paragraph says ‘children with this condition do not make it to adulthood’.
Children who have an undiagnosed genetic condition are classified as swans (syndrome without a name). There are many more children who are swans than I ever thought possible, each with their own unique collection of symptoms.
Every year in the UK around 6,000 children are born with a condition which is likely to remain undiagnosed.
I don’t remember the exact moment I realised she was a swan. It was a gradual process starting from the base of assuming doctors had all the answers and the next, more senior, more expensive, better doctor would take one look and say ‘oh yes! It’s rashy, clumsyitis. Don’t you worry, it’ll pass by the time she’s two and everything will be fine’. It takes a lot to dislodge an assumption like that. I remember when we were in in-patients at hospital and the doctor doing the ward rounds asked if I had seen anything online which might suggest a diagnosis. I remember when the first doctor explained a medication regime which came with a list of side effects as long as my arm and said he wasn’t at all sure if it would make any difference. I remember being told that her rash would pass within four to seven days and looking at it ten months later wondering if I should go back and let the doctor know, so he could warn the next parents.
And slowly, almost two years in, I’m clear. Tilly’s condition is rare. Super rare. We may never know what is wrong.
Life without a diagnosis has its ups and downs. On one hand, the constant not knowing and wondering if the latest ailment is a run of the mill toddler thing, or a new symptom to add to the list of ‘scary stuff to think about’ is tiring. But on the other hand I know we’re lucky. Because without a diagnosis nothing is certain. I have entered a world where statements like ‘children with this condition do not make it to adulthood’ is a reality. And there are families out there having to face that diagnosis and process the consequences. We are lucky because nothing is certain. And there is still everything to play for.