Sisters both struck with Diamond Blackfan Anaemia in unheard of case

By Claire Ellicott
Last updated at 5:36 PM on 8th March 2011

• Doctors say it is 'unheard of' - and now worry younger sister may have it too

When their baby daughter was diagnosed with a rare cancer-causing blood condition, Leona and Hugh Smith-Kerr were told their only hope was to find a bone marrow donor.

Doctors suggested a sibling for their daughter Merlyn would be the best prospect of curing her of Diamond Blackfan Anaemia, a blood condition that affects just a handful of people in Britain.

So when Mrs Smith-Kerr discovered she was pregnant and that the baby was a perfect match, the pair were overjoyed.

But tragically, in a case that doctors have described as ‘unheard of’, the family have now learned that their baby Freyja may also be a sufferer.

Leona and Hugh Smith-Kerr with their daughters Freyja and Merlyn. The family has moved to Leicester to be nearer a specialist hospital

Merlyn, now three, was diagnosed with DBA when she was just one years old. It is a condition that effects just 600 people worldwide.

DBA causes the body not to produce enough red blood cells while at the same time making sufferers susceptible to up to five types of cancer.

Merlyn was diagnosed with leukaemia - a cancer related to DBA - not long after her first birthday meaning she has to survive on a daily cocktail of medication.

Last month specialists at London's St Mary's Hospital told the couple from Herefordshire that Freyja could have DBA too.

So far two tests have shown her rate of ADA - a measure of blood production - being on average over 100, meaning she is positive for DBA. She will have the results from a third and final test in August.

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In this together: Doctors diagnosed Merlyn (left) with an extremely rare cancer-causing anaemia. Now they suspect Freyja (right) may have the condition as well

If confirmed, the diagnosis would mean a bone marrow transplant from Frejya, two, would be useless for Merlyn.

Doctors said either Hugh or Leona, 38, would be a carrier of the disease, but neither has tested positive leaving specialists baffled.

Mrs Smith-Kerr who married her husband last October, said: 'When we were told Freyja might have DBA too we couldn't believe it, the doctor told us it was the first time he had heard of it without either parent being a carrier.

'DBA sufferers are more susceptible to five types of cancer and they can get one or even all five at any time of life.'

She added that it was hard to make sure Merlyn led a normal life while battling two illnesses.

Merlyn has chemotherapy twice a day, morphine, paracetemol, antibiotics, vitamins and food substitutes through a feeding tube but she still managed to have a smile on her face. She is being treated at Leicester Royal Infirmary.

'Merlyn is such a brave little girl and she doesn't let all the medication and things get her down, she just wants to play with her sister,' Mrs Smith-Kerr said.

'When Merlyn was diagnosed with leukaemia it was the most treatable form, but she has still been in out of hospital regularly. In the 12 weeks before Christmas she had seven hospital stays due to infections from her lowered immune system.

'This destroys normal family life and puts our individual realtionships under a massive amount of stress.

'I think she is starting to realise there is something wrong, but most of the time she just gets on with it. It's what she thinks is normal.

'There was a moment when I was bathing Freyja and Merlyn asked 'Why hasn't she got a wiggly', meaning the Hickman line which the access point on her body for the drugs.

'But she just accepted it and said it must be only something older girls get.'

Sisters: A collect of Merlyn, who is receiving chemotherapy twice a week, with Freyja

She went on: 'Obviously we are worried about what they will tell us in August, we are hoping Freyja will prove not to have DBA.

'The thought of going through this journey again, knowing what's to come is terrifying. We don't want to see Frejya suffer the way Merlyn has.'

'But if she does we may have to find two donors.

'The dream is to have both Merlyn and Freyja happy and healthy so they can live normal lives.'

Pub landlord Hugh, 41, said the dream was to have both his little girls leading normal happy lives.

He said: 'Both Merlyn and Freyja are happy bubbly girls, they are so close and it's really great to see them together.

'The only thing that keeps us going is the girls' smiling faces when they wake in the morning.

'It has been hard since Merlyn was diagnosed and we have had to move to Leicester from Herefordshire so we could be close to a hospital that could treat her.'

'Leona is so strong as a mother and her parents have been a tower of strength throughout everything.

'She found out she was pregnant with Freyja before Merlyn's leukaemia was diagnosed. But when doctors suggested the baby might prove to be a match as a bone marrow donor - it gave us hope and confidence.'

He added that they didn't want to try and have a 'saviour sibling' as it didn't 'feel right'.