healthmedicinet

15 June 2014
Last updated at 01:39

James and Emma have Fanconi Anaemia and both need blood stem cell donations

Six-year-old Emma Whittaker knows she needs “special blood” to keep her healthy through regular blood transfusions.

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I want to have the opportunity to see my daughter blossom into a young lady”

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Rachel
Emma and James’s mum

But to stay alive long term, what she needs is to find a matching blood stem cell donor.

“I want to have the opportunity to see my daughter blossom into a young lady. She wants to be a vet,” her mum Rachel says.

The family have until October to find an unrelated donor whose tissue type characteristics match Emma’s in at least eight out of 10 ways.

Family members were not a match, including her four-year-old brother James, and when he was tested to see if he could be a suitable donor, they discovered he would also need a life-saving donation in the future.

Thankfully, James has found a perfect match from the UK stem cell donor registry.

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Why stem cell donation?

People in need of a blood stem cell donation are fighting life-threatening diseases.

Replacing their blood cells through a donation of new stem cells from a healthy matching donor can be their only chance of survival.

About 30% of people find a suitable donor within their own family.

If not, they turn to the UK stem cell donor registry, which holds details of stem cell donors and cord blood donations from England, Scotland, North Wales and Northern Ireland.

There are 894,714 people on the UK register, but less than half of those searching for a donor in the UK manage to find one.

Patients are most likely to find their match from a similar ethnic background.

• Delete Blood Cancer
• British Bone Marrow Registry

Doctors say Emma now faces the last resort of a stem cell transplantation from one of her parents, even though they are only a 50% match.

‘Bruises easily’

Both children have a genetic illness called Fanconi Anaemia, which in most cases leads to bone marrow failure and leukaemia. It affects about 150 families in the UK.

For Emma, this means regular trips to the hospital to have transfusions to bring her blood count back up to where it should be, and regular bone marrow biopsies too.

The effects of her condition have an impact on her life in many ways, Rachel explains.

“She gets tired easily, and her muscles can ache, she bruises easily and she gets rashes a lot.

“She went on a trip to the zoo recently and she was just exhausted afterwards.”

Rachel and her husband found out about Emma’s condition when she was four. She had heart surgery when she 18 months old and she was born with only one kidney – like her brother – and then she started having difficulty breathing.

While Emma’s condition has deteriorated, James is not suffering from low blood counts at present and will not need to call on the help of his anonymous stem cell donor just yet.

Mixed heritage

Knowing James does have a donor match is extremely comforting, Rachel says, but the family are now desperate to find a life-saver for Emma – and this requires people to register as potential donors.

Rachel is half-Iranian so they are particularly keen that people with a Middle Eastern mixed heritage come forward.

Emma needs regular blood transfusions

She says there the process couldn’t be simpler.

“People, especially the younger generations, have no idea how easy it is or what is involved. They only know about donating blood, but this is just as easy.”

To register as a potential stem cell donor, you have to be a generally healthy person between the ages of 18 and 55. After filling out a consent form, a swab of the inside of the cheeks will be collected and used to find out an individual’s tissue characteristics.

If those characteristics match with someone who needs a stem cell donation – about 1,800 people in the UK at any time – then the stem cells can be collected via the blood stream in a process which takes just a few hours, and is as painless as a blood donation.

Deirdra Taylor, from Delete Blood Cancer UK, says everyone should join the blood stem registry.

“It’s quick and easy to do, and it is impossible to overstate how important it is to get as many people on the registry.

“You could be the lifesaving match that someone is seeking, but will never know about it because you haven’t joined the registry.”

Meanwhile, Emma smiles through her transfusions and takes everything in her stride, Rachel says.

“Emma and James are very similar characters. They look after each other.”

The family’s hope is that a complete stranger will look after Emma by registering to donate their stem cells.