Crystal sisters: Siblings both face kidney failure by age 10 as 1 in 3.5m disorder causes rock to take over their bodies
At least my daughters can comfort each other, says devastated motherBoth girls have gastrostomy tubes fitted into their stomachs overnight as they find it difficult to swallow
10:53 GMT, 11 April 2012
A mother has revealed how she discovered both her daughters have an incredibly rare condition that is slowly turning their organs into crystal.
Jessica Kemp, was eight months pregnant with Poppy-Mae, when doctors diagnosed her first daughter Emily with the devastating disease cystinosis, It is an incurable condition that only affects 2,000 people in the world making her case one in 3.5million.
As it is a genetic disorder it meant second daughter Poppy-Mae had a one in four chance of inheriting it.
Darren and Jessica both carry a recessive gene that meant their daughters Emily (left) and Poppy-Mae had a one in four chance of having cystinosis
Ms Kemp said: 'I already knew in my heart
that she had it. I was devastated when the doctors confirmed our worst
fears – both our little girls had cystinosis.'
The condition causes a build-up of the amino-acid cystine in the cells of the body and over time these compounds crystallise in the cells. The crystals form in the kidneys, the eyes, the thyroid gland and the liver and cause damage.
Without treatment, three-year-old Emily and her sister
Poppy-Mae, 22 months, are likely to experience complete kidney failure by about age ten.
In the past, it was rare for people with cystinosis to survive into adulthood.
But while the sisters will most certainly both face kidney transplants in later life, the youngsters are facing their uncertain future together.
Ms Kemp, 25, from Leeds, said: 'Basically their bodies are slowly being taken over by the crystals which build up in their cells.
'Children with cystinosis don’t have the best life expectancies but at least they each know what the other one is going through and they will always have someone around to look after them.
'When Poppy-Mae was also diagnosed it was devastating, but now I’m glad in a way that they have each other for comfort.'
She added: 'Poppy is a very cuddly child and whenever Emily is feeling down or retching from her medications she will go to her and give her a hug.
'And when they have hospital appointments, Emily always makes sure Poppy has a toy to play with in the waiting room to take her mind off it. She will say, “One for Emily and one for Poppy”.'
Darren and Jessica don't know what the future will hold for their daughters but know they will both need kidney transplants
The family’s story began less than a year after eldest child Emily was born. Previously a perfectly healthy baby, Emily suddenly began vomiting frequently and losing weight.
Doctors were convinced she had picked up a passing virus, but Jessica’s instincts told her differently.
She said: 'When Emily was born everything was fine until she was about 10 months old.
'I ended up taking her to the hospital three times in the space of five months because my mother’s intuition was telling me there was something wrong.
'The doctors kept saying there was nothing really the matter with her but I just knew something wasn’t right.
'The final time we took her in they said they would start running some tests. I think they understood that I wasn’t leaving until we got some answers.'
Doctors at Leeds General Infirmary began testing for everything from leukaemia to cystic fibrosis.
Emily’s mum and dad, Darren Atkinson, 33, were told that the rarer her condition turned out to be, the longer the diagnosis would take.
In the end, it was eight months before they received the call to say she had cystinosis.
Emily (right) and Poppy-Mae must have eye drops every day to preserve their sight
Jessica said: 'The whole time we were waiting we were frantic with worry. She was still losing weight all the time and we just didn’t know what was wrong with her.
'We kept going back and forth to ask if there had been any progress but we had a feeling it was something to do with her kidneys.'
Emily was finally diagnosed with cystinosis and Jessica was told a build-up of crystals in her daughter’s body was damaging her organs.
She discovered Emily is just one in 2,000 people in the world to have been diagnosed with cystinosis making her case one in 3.5 million.
She would need medication for the rest of her life, a feeding tube through her stomach to give her nutrition at night and in the future would require a kidney transplant.
Then the parents were told there was a one in four chance that any other children Jessica had with Darren together would have the condition.
Jessica said: 'When I was told about Emily’s diagnosis I just burst into tears because I was already eight months pregnant with Poppy.'
Poppy-Mae was diagnosed with the disorder shortly after birth.
Jessica said: 'When we found out that Poppy had it too, it was really hard. I was suffering from post-natal depression and the diagnosis just sank me into despair.
'But it was the girls who picked me up from it. They both cope really well with their conditions and their courage has inspired me.
'There are times when it’s quite hard for them, such as when they have to have their blood taken, but they manage to cheer each other up and just get on with it.
'They are pretty much inseparable and do everything together from playing in the sandpit to watching TV. Emily even tries to climb into Poppy’s bed sometimes.'
Today Jessica and Darren Atkinson juggle the demands of being the girls’ full-time carers, which means making sure they take their medication every six hours.
The girls also need eye drops as the build-up of the crystals in their corneas makes them very sensitive to the light. Without them they would slowly go blind as the crystals developed.
The disease also affects their ability to swallow so both children are fed through gastrostomy tubes fitted directly into their stomachs overnight.
Jessica said: 'They sometimes kick up a fuss over their medications and their eye drops but apart from that they just get on with it.
'There’s nothing that they can’t do at the moment although we do have to be careful because of their gastrostomy buttons.
'Sleepovers might be an issue when they get a little older but I guess we will just have to have them all over at our house.
'They both have great little personalities. They love playing outside and they love animals – most of the time they are just happy, little girls.
'It’s awful when one of the girls has a bad reaction to their medication but so far we have managed to overcome most of the obstacles life has thrown at us as a family.
'They look after each other and have just adjusted to the way they live.'