“We have lost her and we will never get over that.”
As the family of Saffa Shehzan come to terms with her death, they have not lost sight of their ongoing struggle to help other youngsters battling the same rare genetic disorder.
Majid and Saima Shehzan first told their daughter’s tragic story to help raise awareness of her condition – and put pressure on the authorities to approve a drug that was found to slow down the onset of symptoms.
A new drug – Brineura – has been put forward, which stopped the brain condition in its tracks for 20 of 23 children who completed a 48-week clinical trial.
It has been approved for use in America and across Europe, but the National Institute for Health and Care Excellence (NICE), which makes decisions on which drugs to fund through the NHS, has deemed it too costly.
A year’s treatment reportedly costs between £500,000 and £550,000.
It is estimated there are 30 to 50 children in the UK living with the same CLN2 variant of Batten disease that Saffa had.
The five-year-old’s mum Saima said: “We knew it was too late for Saffa. It’s a very aggressive illness that takes away every single ability.
“They do suffer and the family suffers as well. I wouldn’t wish it on anybody.
“Saffa has gone and it’s a huge loss but we can bring something positive out of this.”
But she said it was frustrating that meetings over a decision on whether to approve the drug for use on the NHS have been delayed.
When The Gazette reported in May that the meeting had been pushed back to September, NICE said the extra time would enable its team to “review the recommendations and ensure they have interpreted the reasons for the committee’s decisions correctly”.