Life with a child suffering from any kind of condition can be difficult, but most parents can take some comfort from knowing what the illness is and what to expect from it in years to come.
But imagine having a child who suffers with a genetic condition which has no name, and the trials and constant questions that come with living without a diagnosis.
Add to that coping with an extensive list of ‘disability’ symptoms, but with no given cause – and nothing to help make sense of it.
That’s the everyday plight faced by March mum Harriet James, whose two-and-a-half-year-old son Tommy has a condition which has come only to be known by the generic term, SWAN, meaning Syndrome Without A Name.
She and the rest of the family have to take each day as it comes, and have no idea how his life will develop.
Now Mrs James, who had to give up her teaching job at Burrowmoor Primary School to be Tommy’s full-time carer, wants to raise the profile of SWAN so more people are aware of the problem.
She is also raising money for the SWAN charity with a fundraising pamper and gifts evening at the school this Friday, April 24, from 7pm to 9.30pm.
Mrs James and her husband Malcolm were unaware anything was wrong with Tommy during the pregnancy. It was only after he was born that doctors concluded he was suffering from an undiagnosed genetic condition which affected certain cells in his body – although which ones, no-one knows.
The left-hand side of his body is much smaller than the right, both externally and internally, and his kidneys are fused together on one side.
He has a shunt fitted in his brain to manage hydrocephalus (fluid on the brain), has crossed and overlapped toes, skin pigmentation disorder, sensory processing disorders, vascular control difficulties, narrowed veins, and global developmental delay.
His eyesight is also affected and he has to be fed via a tube into his stomach eight times a day.
Little Tommy has already undergone 12 anaesthetics, three major surgeries, and in the first two years of his life he has averaged 110 doctors and hospital appointments a year.
He is under the care of four hospitals, including London’s Great Ormond Street and Addenbrookes in Cambridge, has frequent physioptherapy and will probably require leg lengthening surgery in around four years to correct a 5cm difference in leg lengths.
Mrs James said in order to cope with Tommy’s constant care and to maintain normality for his older brother and sister, she had to give up her job as a teacher in December last year.
“Caring for Tommy has impacted on my health also, and he wakes frequently during the night,” she said.
But despite his difficulties, the cheery youngster is always smiling and loves playing football and on the trampoline.
Mrs James said: “Tommy is simply amazing and constantly surprises us. He has a wonderful personality and a wicked sense of humour. You cannot help but admire him.”
Friday’s fundraising event is being held on SWAN’s third annual Undiagnosed Children’s Day, which aims to raise awareness of children living with the condition.
More than 100 people are expected to attend the evening, which will include stalls from Pampered Chef, The Body Shop, Avon, Younique Beauty and Scentsy to name a few. There will also be taster sessions in reiki, nails, hair and massage, as well as refreshments and a raffle.
Entry is £3 on the door, including a free glass of wine or soft drink.
For more information, contact Mrs James on 07817 232705.
Anyone unable to attend the event, but would still like to donate, can give £5 by texting SWAN11 to 70070.