Picture the scene, at the park, a toddler group, the local children’s centre. Another parent approaches and say’s ‘hi’. They turn to your child and say ‘well hello there, what’s your name’.
GG’s response, – silence and a stare.
They smile, undeterred, and repeat ‘What’s your name?’
‘Me’ responds GG – cautiously.
A chortle and a ‘that’s not your name!’
‘Me’ responds GG – hand on her chest to emphasise her point. Baffled by the strangers response.
The parent looks at me – confused. I try and explain. I might say ‘GG has a few challenges’ or ‘GG has developmental delays’ or ‘Think of GG as a 12 – 18 month old’. The sympathetic looks start, the well meaning ‘Oh she will catch up’ – inevitably followed by some tale of a child they know who had a problem but is ‘fine now’.
Then the question all parents of an undiagnosed child dread: ‘So what’s the diagnosis?’
‘There isn’t one’ – stunned silence. That was unexpected.
‘Oh – so you don’t know what is wrong?’ No, we don’t.
Where do I start? I give it a try.
‘GG has an undiagnosed genetic condition’ – Wow, undiagnosed? Really? In the internet era? Google doesn’t have the answer? ‘No’. Believe me I spent the first 2 years on Google to no avail. Sending a list of conditions to the Geneticist for them to test for.
‘Have you seen a doctor?’ Ha! ‘Has GG had any tests?’ I offer to provide a list of the 13 medical professionals involved in GG’s care. I can’t even begin to list the 100s of conditions that genetics have tested for. A medical conundrum.
So I try something more tangible, ‘GG has 3 types of epilepsy’ – oh right so that has caused her challenges. Um, no. GG also has low muscle tone, hypermobility, misaligned bones, squints, poor pain reception, sensory issues, no sense of danger, severe learning disability. The face drops as the list gets longer.
‘How do you know she has a genetic condition if she is undiagnosed?’ A favourite question of mine. The bottom line is we don’t for sure. However all other known conditions have been ruled out so genetics is the most likely cause. This one at least can create a bit of debate.
‘She’s beautiful / so happy / so smiley / very cute’ – oh yes, GG is and we adore her. Children with disabilities – undiagnosed or otherwise – are just as adorable as other children. Why does that always seem to come as such a shock?
At this point some people politely move away – find another parent they can discuss school choices with and have a relaxed cuppa. I don’t blame you, it is not an easy conversation.
Others bravely probe further. ‘What’s the prognosis?’ We don’t know. ‘Is it hereditary?’ We don’t know. ‘Does GG have a normal life expectancy?’ We hope so but can’t say for sure. ‘Will she need lifelong care?’ Almost certainly. ‘Are her siblings affected?’ No idea. ‘Will her siblings children potentially be affected?’ At this point I well up. The curiosity, the well intentioned questions – all with impossible answers.
Then…..‘Are there others who are undiagnosed or is GG the only one?’ This is the question I like to answer. This one gives a positive slant – I can talk about SWAN – Syndromes Without a Name. My lifeline. The place we finally no longer felt alone. A group of inspiring parents, who have mostly never met, but will do everything within their power to help others in the group. The place I can talk about our fears. The place I can celebrate the small successes that are so important – that other parents cannot begin to understand the significance of. SWAN the font of collective knowledge that taught us so much about the help, support and practical actions we can take.
What do you do about dribble rash? Breastfeeding barrier cream.
Where can we get travel insurance that doesn’t cost as much as the holiday? A list of recommendations within minutes.
Where can I find a changing mat for a 5 year old? Someone offers to post a spare to me.
Being the parent of a child with disabilities is a shock. Being the parent of a child with an undiagnosed condition is an extra layer of difficulty over the top. GG does not fit into a box. There is no ‘tick here’ for an undiagnosed condition on the many forms we have to complete. The emotional impact of the unknown is considerable. The question that will forever lurk in the corners of my mind – did I do something wrong? Did I cause this?
Undiagnosed children’s day is on Friday 29th April 2016. Please share this blog so that others may start to understand the challenge. Please help us to raise awareness and ultimately provide more support for the 6000 families who every year find themselves in this position.