12-year-old Cezy Fosca lives in Kilkenny City and suffers from Morquio syndrome. Her family waited for months on approval for her treatment, after she lost access to it. Finally, the Health Service Executive approved funding for Cezy’s treatment. Keep reading to learn more, and follow the original story here for additional details.
In 2011, Cezy and one other child waited on the trial list for a new treatment. The treatment, known as Vimizin is the only enzyme replacement therapy targeting the root causes of Morquio syndrome.
Morquio syndrome is a rare genetic disease caused by an inherited recessive trait. Morquio syndrome belongs to a group of diseases known as mucopolysaccharidosis syndromes and is also referred to as MPS IV. Morquio syndrome is a deficiency in the body’s ability to store specific cellular materials. With cells unable to recycle these materials, buildups occur within cells, muscles, bones and organs. This leads to heart disease, abnormal skeletal structure, loss of hearing, and weakness in the legs.
For more information on Morquio syndrome click here.
Previously to Cezy’s request, the Health Services Executive denied a series of similar requests. These requests all involved BioMarin, Vimizin’s manufacturer. March 29th saw a change of events. On March 29th, BioMarin arranged with the Health Services Executive (HSE) to supply Vimizin to Irish patient with Morquio syndrome.
In months prior, Cezy traveled across the country. Everywhere she went, she and her family appealed for treatment. Various leaders and officials heard the need of this young patient and began calling for her need to be addressed.
Over the Easter break, Cezy’s mother, Elena, received a call from a nurse at Temple Street hospital. The nurse informed Elena that Cezy would be able to resume her medication.
Cezy’s mother expresses relief and joy that their ordeal is over for now. She issued a statement explaining her gratitude. Furthermore, she explained that Cezy faces a few more weeks of waiting before her medication. In the meanwhile, she points out how exhausted her child is. This, she elaborates, shows the effect of taking her off her medication.
BioMarin contacted the Fosca family as well. They explained that medication would become available and that they would be reimbursed as soon as possible. This of course follows the necessary steps of contract negotiations, finalizing logistics, and completing the approval process.
BioMarin sees the process as a “…transformative and innovative agreement…” The company states that the agreement recognizes the burden of Morquio syndrome in Ireland, and the need to develop further treatments. They pledge to work quickly with the HSE so Irish patients can benefit from the treatments others already have access to.