James’s story: the cutest smile

James was born perfectly healthy in March 2008 and, as time went on, he met all his important milestones. He was walking at 18 months while holding one of his parent’s fingers, and he could say the odd word such as “Dada”, and “Ozza” (Oscar the cat).

He was into everything, says mum Amanda “pinching my lunch, pulling the cat’s tail and helping us to decorate by putting his full arm into the paint tin! All with the cutest smile”.

Amanda was pregnant with her second child and “life was good”.

Unfortunately, this was when James’s seizures started: short, quick jerks that left James floored. And after many hospital tests, James was started on medication.

“When our daughter Ruby was born two months later, it was clear that something was very wrong with James,” says Amanda. “He had stopped crawling, walking, standing and was struggling to sit. He was a different boy – like something had been switched off.”

But when the seizures changed, the family had a glimmer of hope: hospital staff said it might just be epilepsy that needed controlling. “We felt such relief,” says Amanda.

No words

When asked to meet James’s hospital consultant in January 2010, Amanda told us she thought it was to discuss these new seizures. “I hated going to the outpatients department because it was always so busy, but this time it was empty. Two nurses were waiting for us, and alarm bells started to ring.”

“The consultant called us in and gave us a diagnosis: Infantile Batten Disease. There was no treatment; no cure. Our son, James, now nearly two-years-old, would not live beyond his fifth birthday. There are no words to describe what it feels like to be told this. ‘Shocked’, ‘devastated’? Not even close. We learned that Infantile Batten Disease is a neurological degenerative disease, causing James’ brain cells to die.

“We were handed a sheet that read: ‘Over time, affected children suffer mental impairment, worsening seizures and progressive loss of sight and motor skills. Eventually, children with Batten Disease become blind, bedridden and demented. It is always fatal.’ Because it’s a genetic condition we had to have Ruby tested as well. We waited a week for her results and when they came back clear the relief was also indescribable.”

“We had two choices: to let this diagnosis ruin our family or dust ourselves down and live. We never expected to be faced with this but we owed it to our children to give them the best life possible, however short that may be for James. So we pledged to make the days count.

“Bravely or stupidly, we also decided to have another baby. A roll of the dice…

Fortunately, early pregnancy testing is available and we learned that James and Ruby’s new sister, Isabel, would be clear of the disease. Our family life took on a new dimension.”

Loving life

James is proving the doctors wrong. “Yes, he is severely visually impaired, immobile, tube-fed and cannot speak but he has outrun that fifth birthday milestone and he is loving life,” says Amanda. “He goes to school where he has friends. He loves hydrotherapy and the sensory room. He smiles to show us he’s happy. He has started opening his eyes wide to communicate with us and, if we’re really lucky, we get a laugh or giggle. He loves cuddles and having his legs and arms wiggled. His sisters are so caring and thoughtful with him.”

James needs 24/7 care and it’s exhausting. “It’s the hardest job I’ve ever done (and I was deputy head of an inner city primary school!)” says Amanda, “but I love every minute.”

Respite is key to staying upbeat and positive

The family stays at The Donna Louise Children’s Hospice where Amanda is able to get a complete rest because James is so well cared for there.

“There we become ‘normal’. I chat to other mums about feeding pumps and suction machines (other mums without special needs children would have looks of horror on their faces!). During our stay I can be a mother to all of my children and not a nurse. I leave the hospice a new woman.”

At the hospice, there’s counselling, sibling groups and help with equipment. “This respite is key to staying upbeat and positive,” says Amanda. “We’re not sure what the future holds for James but we do know it would be a lot harder without the hospice’s care and support.

“One of my favourite quotes is: ‘Life is not measured by the breaths we take but by the moments that take our breath away’. And James provides us with so many of those.”

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