Parents fear little Anna (3) will die if wonder drug taken away
A little three-year-old girl may have just months to live if a decision to withdraw the wonder drug that saved her goes ahead.
Anna Turner has a rare condition known as hypophosphatasia, which means that her body cannot convert calcium and her bones do not grow properly.
She is currently receiving lifesaving asfotase alfa injections, but the National Institute for Health and Care Excellence (NICE) has said that it is not cost-effective and may soon be withdrawn from the NHS.
When Anna was born her parents Jenna and Alan were told that their beautiful little girl would probably die within six months as her lungs would grow but her ribcage would not, causing her to suffocate.
She was also very prone to fractures because her bones were so weak, and she additionally suffered from rickets.
At around seven weeks old she contracted bronchiolitis and doctors were unable to treat her because her bones were so soft that the treatment would probably have broken her ribs.
The family, who are originally from Kilkeel but now live in Waringstown, were given a lifeline when they were told about a revolutionary trial in Sheffield for the drug.
Anna was taken by air ambulance to England and her parents said she improved very quickly after the first injection.
Alan added: "Her improvement was remarkable. This drug started to straighten her bones out and her bones started to fill in. It's beyond belief what it's done for her. She has started to grow and she is healthy. The drug saved her life."
Now, three years on, Anna is a very chatty and active little girl. She has just started nursery school and loves playing with her little sister Ella (16 months).
She receives three injections of the drug every week and otherwise leads a normal life.
But last weekend Jenna and Alan discovered that, despite a 100% success rate, NICE had decided that the high cost of the drug - around £366,912 per child per year - could not be justified.
Although the Turners are hopeful that the drug company will continue to provide the treatment to Anna on compassionate grounds, Alan stressed that if their decision was reversed, Anna would quickly go downhill and could die.
He said: "If the drug is taken away and for some reason the drug company stops providing it, Anna's bones would deteriorate and she would end up in a situation where her life expectancy would be shortened. That is how serious this is."
He added that the family was also trying to reverse the decision to help other families who may never get the chance to get the lifesaving treatment and may have to watch as their children die.
He stressed: "Anna has made our lives so wonderful, and the thought that other parents would miss out on that because this isn't value for money is just terrible.
"I just can't imagine the frustration knowing that there is a drug there which will save your child's life but the Government aren't willing to pay for it. We think it is a massive injustice."
But Meindert Boysen, technology appraisals programme director at NICE, told the Belfast Telegraph: "The committee was not satisfied that the company had provided an adequate justification for the high cost per person of asfotase alfa - or for the overall cost to the NHS - in terms of what could be expected to be reasonable in the context of a highly specialised service. The committee concluded that, although asfotase alfa is an important development in the treatment of paediatric-onset hypophosphatasia with the potential to provide major benefits for some people with the condition, it does not represent value for money for the NHS."
To comment on the NICE guidelines, visit https://www.nice.org.uk/guidance/indevelopment/gid hypophosphatasiaasfotasealfaid758/consultation/html-content
The Belfast Telegraph