Elena pictured with her daughter Cezy (11)
Cezy Fosca is a vivacious 11-year-old who lives with a challenging medical condition and is facing losing the only treatment that is available to her.
At two she was diagnosed with Morquio Syndrome - a rare genetic condition results in abnormal development of the bones including the spine, along with fatigue and painful joints.
In 2011 Cezy was selected to go on a trial for a revolutionary drug - Vimizim. It is licensed in Ireland but her family are now fearful that after years of treatment the drug will no longer be able to them.
Elena Focsa explained that her daughter currently receives weekly infusions of Vimizim which have helped her. For over three years, the manufacturer, Biomarin, has given the drug for free on compassionate grounds.
“When the drug went on trial Cezy was selected and then it was approved and licensed. Before she had to go to Manchester and then to Temple Street Childrens' Hospital to get the drug. Now she gets her weekly infusion in St Luke's Hospital. There was nothing available for Cezy prior to this and I don't know how she will be without it,” her Mum, Elena said.
“We have found out that from December the drug will no longer be able to her. Cezy is a bright and bubbly girl and we just want to keep things as normal as we can and give her every chance we can. She knows what is happening and is very annoyed by it,” she added.
Vimizim is a form of enzyme replacement treatment and was approved by the European Medicines Agency in 2014. The manufacturer has continued to provide the drug free of charge on compassionate grounds. In the meantime the Fosca family were waiting for Vimizim to be assessed by the National Centre for
Pharmacoeconomics which has now decided not to recommend it for reimbursement. The HSE said the final decision lay with them and they have informed BioMarin that they would not be reimbursing it.
In a letter to the girl’s consultant in Temple Street Children’s Hospital, the company said the HSE refused to reimburse Vimizim in Ireland 'due to lack of clinical data and a perceived lack of value for money'.
“While BioMarin has been given leave to appeal the decision and is going through the appeal process, there is no guarantee, despite best efforts, that the appeal will be successful.”
As a result, the letter said, it was ‘with regret’ the company was ceasing free access to Vimizim in Ireland. A spokesperson for the manufacturer said that it ‘will continue to use all efforts to succeed in getting Vimixim approved for reimbursement in Ireland’ and described the decision by the HSE as ‘surprising’.