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Deborah and James Alford's daughter, Isabella, has a rare disease called Tay-Sachs Disease
Deborah and James Alford's daughter, Isabella, has a rare disease called Tay-Sachs Disease
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ISABELLA Alford sits on her mum’s knee, gleefully makes noise on an electronic toy and giggles when her toes are tickled.

During the day she sees friends at playgroup, and at weekends she is entertained by a conveyor belt of doting adults eager to help out parents Deborah and James. As an only child, she gets her share of attention and her mile-wide smile is the sign of a happy two-year-old.

But alongside the carefree distractions of a toddler’s life, the Alford family have to deal with an unavoidable fact: Isabella will die in childhood and likely within the next two years.

In March, Isabella, from Thetford, was diagnosed with Tay-Sachs disease, a rare genetic disorder which affects around one in 360,000 births a year in the UK – only one or two children. Life expectancy for sufferers is four years of age and, before death, mental and physical abilities deteriorate rapidly.

This time last year, Isabella was living what Deborah calls ‘a perfectly normal life’ – playgroup, children’s television, dinner, bath and bed. She developed like any other 18-month-old, able to toddle from mum to dad and beginning to find her own voice. If anything, she was progressing ahead of time.

It was at that point that Deborah noticed that her daughter’s unsteady steps were not improving and after seeking advice from everyone from their GP to a neurologist, they were told that eye tests revealed a cherry-red spot on her retina – a key symptom of Tay-Sachs. Deborah’s own research told her the extent of her daughter’s condition.

“I’d already read about what these things were, the minute I went to see a neurologist I’d read anything I could get to find out what it could be and the cherry-red spot really narrowed it down. I’d already come to the conclusion of what it was.”

A blood test confirmed Deborah’s suspicions and since then the disease’s grip has tightened.

“Up until the first doctor’s appointment everything was fairly normal, only the walking was a real concern. But since Christmas last year, she is totally different. She could walk, she could see normally, she could eat Christmas dinner, she could sit, she could crawl. Now she can’t do any of those things.”

The decline in her physical state has left Isabella blind and unable to swallow. She underwent a gastrostomy in the summer enabling her to eat and plays happily in a specially-adapted chair while food is piped into her stomach via an electric pump. To adult eyes, there is something unnatural and upsetting about seeing a young child spending dinner time this way. Eventually, she will lose her hearing and what is left of her physical capabilities.

But Isabella is happy, and while she is happy Deborah and James feel compelled to make the most of what time she has left.

“We tried to do a lot this summer because there is much more scope to do things and we don’t know where we’ll be next summer.

“The next big thing will be her birthday party in December, which we’ve just started planning, because she’s never had one before.

“In general day to day life you might think about doing something and then six months later get round to it. Now, if we think of something we want to do we get on and do it as soon as possible because we don’t have any time to lose.”

Despite her positivity, Deborah knows there is only one outcome to their situation. Now her and James’ future is set on helping those who find themselves in the same nightmare.

Aside from linking up with fellow Tay-Sachs families, Deborah wants to raise awareness and provide support through the Cure and Action for Tay-Sachs Foundation (CATS).

“Part of the charity is to help families going through it. When people have received a diagnosis there’s not a lot out there but with this charity at least there are some people in this country who can help.

“We also want to raise money so that research can continue, especially clinical trials.”

Isabella is not aware of her condition or fate. Her life has changed immeasurably already, and will change much more in the coming years. For the Alfords, living for the day is a priority, not a cliche.

A fund-raising event for the National Tay-Sachs and Allied Diseases is being held today at Barnham Buzzy Bees toddler group. To donate to CATS, visit www.cats-foundation.org/donate