Orange (not his real name!) is my youngest child and he is a medical mystery. He has a Syndrome Without A Name (SWAN for short). He is one of thousands of children in the UK who have complex disabilities but who have no diagnosis for their condition.
Orange was born in March 2011, our second child. Apart from a bit of difficulty with tongue tie, a wonky mashed up little head from the birth and knowing he had hypospadias (where his urethral opening is slightly further down than it should be) he was a picture of health. Small, old-mannish and wrinkly, he was curled up, newbornish and sleepy for the first month of his life.
Orange slept. A lot.
What a RELIEF, I thought, after having had a much trickier time with our daughter two years previously.
He fed and slept, and fed and slept and did very little else for six weeks. He started to smile at six weeks but avoided eye contact and didn’t care about toys. He was very floppy and his head was an unusual shape. His cranial osteopath started to make noises about him being very unalert and having a very stiff neck. His head control was non-existent. I had vague concerns that when he fed it seemed different to feeding Boop. He was noisy, gaspy and sweated as he fed. He failed his newborn hearing screening.
Piece by piece a picture was building that began to paralyse me with fear.
At his 8 week GP check he ‘passed’ all his tests but the GP ummed and ahhed about his muscle tone and asked us gently to come back in a month ‘just to check on his development’.
During that time I Googled. And I Googled some more. I scanned symptom lists, scoured medical journals. The more I read, the more I found. The more I found, the more I read.
I was afraid.
At five months old, he saw a developmental paediatrician at St Thomas’s Hospital. This was the moment my hope that there was actually nothing wrong after all disolved completely. He was very concerned about Orange and immediately ordered a huge number of tests to be done. I came away from that appointment terrified and desperate for answers. The wait for results felt like an eternity. Never did I imagine that the results wouldn’t tell us anything. Neither would the next set of tests, or the next…
Orange has had MRI brain scans, heart scans, kidney scans, chest x-rays, chromosome testing, lumbar puncture, neurological, audiological and opthalmic tests, EEGs to examine his brainwaves, invasive hypospadias repair surgery and has been admitted to the High Dependency Unit for seizures that cause him to stop breathing.
We had hoped, with all the testing and to-ing and fro-ing seeing medical experts, that we would have found a diagnosis for Orange. A reason for his difficulties. But we haven’t. Even the cleverest medical and scientific bods in the world at the Deciphering Developmental Disorders study in Cambridge haven’t been able to find a cause for Orange’s difficulties.
All we have is an (ever growing) list of symptoms of unknown cause that now includes epileptic seizures that cause him to stop breathing, visual impairment and learning difficulties.
Without a diagnosis we do not know what the future holds for Orange, whether his life expectancy will be shortened, or whether he will ever learn to walk or talk.
Once we realized that Orange’s life was going to be more complicated than we’d imagined, our world turned upside down. I wanted to return to work when he was three months old but couldn’t because that was the point his hospital appointment rollercoaster began. Our lives quickly became unsustainable but, at the same time, gradually, our values, hope and dreams changed too.
So we sold our house in London and moved to the south-east Cornwall coast. Now Orange and Boop are growing up by the sea. He copies the sounds of the seagulls and gets to enjoy Rock Pool Therapy on sunny days. He has a lovely life. We have a lovely life.
Orange is cheeky, has an insane sense of the ridiculous, he laughs when his sister is getting told off, he goes nowhere without his favourite Bert and Ernie toys (yes, from Sesame Street!) and he has a smile that has charmed countless women already (and he’s met a LOT of women, what with doing the rounds of all the local therapy clinics and hospital wards).
He likes to ‘sing’ along to 80s power ballads in the car and has a penchant for country music and brass bands while being a budding percussionist himself. He likes to throw stuff and smear food all over his head.
He thinks burps and farts are funny, which is a good thing because he likes to eat a lot of curry.
He can sit in front of the telly, tunnel-visioned, for hours, especially if there is rugby or an episode of the Pajanimals to be watched. He adores his sister and she adores him, except for when he’s making tidal waves in the bath.
In spite of his difficulties, Orange is getting on with being a typical boy. A loud, messy, funny, typical boy.