Scottish Independent Media

By Claire Elliot

BRAVE Lena Forsyth has to take a daily cocktail of medication - or her organs will turn to crystal.

  The eight-year-old is one of only 2,000 people worldwide to suffer from a rare metabolic disease called cystinosis.
 

She was diagnosed with the genetic condition when she was just seven months old.
 

Now the youngster from Mintlaw, Aberdeenshire, must adhere to a strict treatment regime every day starting at 6.30am.
 

She has to wear a baseball cap to go outside when it is bright as her eyes are sensitive to light.
 

And, as Lena does not sweat like other children, in hot weather she has to stay indoors to prevent her body from overheating.

 But despite the severity of her condition, which slowly destroys the organs including the kidneys, liver, eyes, muscles and the brain, she never lets it stand in the way of her childhood.
 

She goes to mainstream school, Sunday School and has been Highland dancing since the age of three.
 

Her mum Vicky, 38, who gave up her work with an insurance firm to look after Lena, said her daughter was “remarkable“.
 

“She just gets on with it,” she said. “If she’s having a bad morning and the time comes to go to school she just gets ready to go.
 

“She never complains. She’s just brilliant.
 

“She is not as physically strong as other kids her age. But she still does Highland dancing and she does PE at school. She is maybe not the fastest but it’s about taking part and enjoying the day.”

 Her dad Roy, 37, who is chairman of the Cystinosis Foundation UK, added: “It’s just the way Lena is.
 

“She is just so easy going. She really is a special kid.”
 

Lena, who has to forfeit playing with her classmates during lunch break to get her medicine, receives a cocktail of drugs through a tube in her stomach five times a day, plus eye drops four times daily.
 

Without it, the cells in her body would crystallise, causing widespread organ damage.
 

When her parents were first told their daughter had the disease they had never heard of it before.
 

Mr Forsyth said: “All we knew was that our baby was sick, which was upsetting.
 

“But we didn’t know how it was going to affect us or what the treatment would be. We were just numb.”

 In the past the disease would have meant Lena had little chance of surviving into adulthood.
 

But there is now medication she can take to prolong her life, with many sufferers now living well into their 30s.
 

Lena also has to get her blood tested every six weeks to check how her organs are functioning and she is fed through a tube every night to make sure she gets the right amount of vitamins and minerals.
 

At home, the family keeps a chart to log the medication, fluids and food stuffs Lena has each day.
 

Mr Forsyth, a mechanical support engineer, said: “Every cell in the body is affected in some way.
 

“Depending on how well the condition is managed depends on how much or little damage there is to the organs.
 

“But we have been very lucky with Lena. She is doing really well.”

Cystinosis affects just one on 200,000 births and there are thought to be only around 2,000 people with the disease worldwide.

 It is caused by a build up of amino acid, cystine, in the cells, which causes them to crystallise and die and in turn damage the body’s organs
 

It only takes a few minutes for Lena’s parents to administer her medication - including a drug that reduces the amount of cystine in her body - but the side affects can leave her feeling ill for at least an hour after.
 

For that reason the family is helping to fund research to improve a drug called Cystagon, so that it is more effective, has fewer side affects and is more palatable.
 

They have already helped collect nearly £80,000 to support research being carried out at Robert Gordon University in Aberdeen and Sunderland University.
 

To add to the research fund Lena’s uncle, Matt Blackham, 33, cycled 200 miles - a mile for every person affected in the UK - finishing on August 29, at Lena’s house.

Her dad said: “To give her the medication it only takes a couple of minutes but the after affects can be up to an hour and sometimes longer.
 

“If we could fool the body into thinking it was something else to push it through system rather than it expelling it they might be able to take lower doses and take it less often.
 

“The drug has a horrible taste, a horrible smell and horrible side effects.”
 

The couple also have a 16-month-old, daughter Ruby, who had a one in four chance of being born with the disease. But tests have shown she is not affected.
 

Lena also has an intolerance to cows milk, which is separate from her cystinosis.
 

Despite the severity of her illness, however, Lena has not been admitted to hospital since she was two, when she had gastroenteritis.
 

Her mum said: “The only time she is in hospital now is for arranged appointments.”