Mum describes difficulties of daughter's illness for rare diseases day

IT’S every mother’s worst nightmare.

Katie Elliott was a happy and healthy child until she was diagnosed with Niemann-Pick disease at the age of eight.

Now aged 27, she cannot speak, walk or look after herself.

Today is Rare Diseases Day and Katie’s mother Susie is sharing Katie’s story to raise awareness of her life threatening condition.

There are less than 2,000 diagnosed cases of Niemann-Pick disease worldwide with no cure.

As the condition progresses it causes learning difficulties and symptoms similar to dementia.

For the first few years of her illness, Katie remained stable and close to her siblings Mike, now aged 24 and Jenny, 22.

When Katie turned 16, she attended a special needs course at Bromley College and started to become independent.

She made friends, got a boyfriend, used public transport and also had a part time job at Debenham’s in the Glades shopping centre in Bromley town centre.

But sadly this wasn’t to last as her condition worsened.

Susie, of Lower Camden, Chislehurst, said: “Worryingly she had no sense of danger and would often cross in front of cars at her own leisure, just expecting them to stop.

“Katie was travelling home one day by train and failed to get off at her stop and went on to London.

“What is disturbing is to this day we have no idea how she got home as her coverage of events that day changed with every telling.”

By her late teens her speech had become slurred and she had lost muscle control.

She struggled to walk and became incontinent.

Perhaps most difficult for Susie was when Katie suddenly stopped speaking.

Susie, aged 54, said: “I miss her voice. Whereas I used to get so irritated with the constant questions I now beg her to try and say something to me.”

As Katie grew more ill, the pressure on Susie to provide continual care became too much.

She said: “I realised I wasn’t coping.

“I rang social services and said something along the line of ‘I’ll slit my throat if I don’t get any help.’ Things then started to happen.”

Katie now receives respite care once a month from Bromley Primary Care Trust and regularly attends care centres during the week.

Thanks to charity Break, which provides support for service users and their carers, Katie will enjoy a holiday in Norfolk later this year, which Susie hopes can become an annual trip.

Susie said: “Even though Katie is not the girl we once knew, we still get glimpses of the old Katie.

“Sometimes I watch her in her own little world, staring and passive and I wonder what she’s thinking.

“Does she feel annoyed, frustrated, sad? Is she content? I know she understands us, just can’t respond.”

Despite the struggles, Susie is determined to stay positive.

She said: “Katie has an infectious smile and we do laugh a lot as a family. We are a tight family and despite the hardships have managed to get through the last few years with our sanity intact.”

“We know there are hard times ahead for this cruel disease but we are fighters and I am determined we will keep strong as a family and make Katie’s life as happy as possible.”

RARE DISEASES IN NUMBERS

-8,000 rare diseases have been discovered.

-0.05 per cent or fewer is the number of people a disease must affect to be classed as rare.

-One in 17 people will develop a rare condition at some point in their life.

-30 per cent of rare disease patients will die before their fifth birthday.

-One in 10 rare disease patients wait more than 10 years for a diagnosis.

Rare Disease Day was set up to raise awareness of the difficulties patients face during diagnosis and when battling illness.

For more information visit rarediseaseday.org