By SWAN UK member and blogger, Alex Davey - thelongchain.wordpress.com
April 29th 2016 is the fourth annual Undiagnosed Children’s Day, and it promises to be bigger than ever. It’s the third Undiagnosed Children’s Day since our own undiagnosed child, Benjamin, was born, and only the second since we found out that Undiagnosed Children’s Day and the initiative for undiagnosed children, SWAN UK, existed. A fitting time to look back over the past year and forward to the next.
Many things have changed since our first Undiagnosed Children’s Day, not least Benjamin himself. A year ago he was a frail baby, his 7¼ kilos dropping off the centile charts altogether. Now, he is a strapping, 13½-kilo toddler (can you call him a toddler if he doesn’t toddle?), creeping over the 50th centile.
For this we can mostly thank one big decision: that Benjy should have a gastrostomy. One year ago we were bottle-feeding him high-calorie milk his every waking moment and he was still not gaining weight, strength or energy. Tube-feeding has made a massive difference to all of us. Benjamin is thriving; he has energy to grow, to learn and to love. We have the time and energy to enjoy life and to enjoy him and our other children.
A bigger boy, and a bigger character: he wears trendy glasses (a simple thing that has made a massive difference to Benjamin’s experience and enjoyment of the world, thanks to one insightful consultant who gave his brain the benefit of the doubt and the chance to show what it could do with clearer images to work with), adores nursery school, loves chocolate buttons and Mr Whippy ice cream, and will flirt with anything female.
And it’s not just Benjamin that has grown this past year. Thanks to the supportive and encouraging doctors at the Edinburgh Royal Infirmary, a lot of heart-searching, the thoughts and prayers of many wonderful friends and family (and a small amount of bedtime action), our little family has grown too.
With all this growth have come bigger challenges too. Benjamin needs not just bigger clothes, but bigger nappies, a bigger bed, bigger equipment of all kinds. Instead of our nippy little Mountain Buggy we now have a sort of pushchair-wheelchair hybrid that might look like a mainstream buggy but weighs like a tank and handles like a shopping trolley. And it won’t be long before we have to enter the world of hoists, lifts, housing adaptations and WAVs.
The circle of professionals involved in Benjamin’s care also grows ever wider as more and more challenges present themselves. This is a common issue for undiagnosed children – instead of dealing with a single specialist in a known condition, we are sent to a new department for every new symptom. Although we are in the fortunate (and rare) position of having good coordination between most of the services and departments involved in Benjamin’s care, it still results in an awful lot of appointments at an awful lot of different places.
Perhaps the most difficult aspect of Benjamin’s care is the never-ending game of catch-up we play as he repeatedly outgrows the dosages of his many drugs. At its most worrying, failure to increase his epilepsy medication in line with his weight resulted in a three-hour tonic-clonic seizure. If his muscle-relaxant isn’t adequate, he can spend days in a state of constant high tone, fighting against his own muscles, drenched in sweat as if he were running a marathon while lying stationary in his bed. We’re always firefighting, waiting for symptoms to occur before we can increase his doses; where pre-emptive increases based on his weight might save him so much pain.
And, as each year passes, the developmental gap between Benjamin and his peers becomes ever wider. The stares and comments become more frequent, and the opportunities he’ll miss out on more apparent. We can no longer carry his buggy over the bridge to our beautiful beach; it won’t be long before he’s too big to lift into the swings at the play park. Already I can see his experiences becoming more restricted by his physical size and ability. Already he’s being overtaken by his seven-week-old sister in motor skills and communication.
The year has seen big rewards too: developmental ‘inchstones’ of the kind that mean so much for children without a prognosis. Before this year, Benjamin could only smile at people in his direct line of vision; now he has gained the ability to turn towards someone and flash that smile – a new skill to add to his repertoire of flirting techniques. He’s more interactive both inside and outside the home. He loves to go to nursery – his face lights up when he sees his teacher and realises where he is. And he’s slowly learning (largely from the noise) that he now has a little sister.
And at last we’re getting some formal support: family breaks at our wonderful children’s hospice, and agency carers to help put Benjamin to bed some nights. Informally, we find ourselves part of a growing community of friends near and far, real and virtual, with whom we share the experience of special needs parenting and the challenges of being undiagnosed.
Every day we spend with Benjamin is a bonus and a joy. Every year that passes, we move further beyond our tentative hopes that he might survive birth, a few weeks, his first two years, … No closer to a diagnosis, no nearer to a prognosis, we journey deeper into the unknown. How long will he live? How will he be cared for if he outlives us? Could his condition be passed on to his siblings’ future children?
The next year will no doubt bring more big challenges, big decisions, and big rewards (as well as more chaos and a whole lot more laundry…). We’ll become eligible to apply for the mobility component of Disability Living Allowance which, if awarded, will fund a car through the Motability Scheme and should make our lives a whole lot easier. Benjamin will take up a three-year-old nursery placement, fifteen hours a week, which will be a big opportunity for him and a big wrench for me. It will also mean I have the capability to increase my working hours considerably – something I’ll have to think carefully about to work out what’s best for our family. And who knows what new medical challenges it will throw up and what developmental feats Benjamin will achieve?
For undiagnosed children across the UK it promises to be big year: with the UK’s first specialist nurse for undiagnosed conditions starting work, we hope it will be a year for raising awareness and improving care – particularly coordinated care – for children with undiagnosed conditions. Could it be the year we make SWAN UK’s big ambition – that all families who have a child with a syndrome without a name have the support they need when they need it – a reality?
SWAN UK wants to make sure that every family of an undiagnosed child has the support they need, when they need it. SWAN provides the only specialist support available in the UK for families of children and young people with undiagnosed genetic conditions. They support families in hospital and at home offering 24/7 support and information.