According to a story from the Irish Mirror, eleven year old Cezy Fosca, who has a rare condition called Morquio syndrome, has lost access to the only drug available that can treat the disease. Now, her and her family are struggling to get it back. Cezy has personally met with the Minister for Health, Simon Harris, in order regain access. Cezy’s family lives in Kilkenny city.
Morquio syndrome is also known as mucopolysaccharidosis IV. This a genetically inherited condition in which the body is unable to process certain mucopolysaccharides, causing them to build up within the body. This results in a variety of unusual symptoms, such as abnormal skeletal and heart development, large fingers, hypermobile joints, a flared ribcage, short height or dwarfism, enlarged heart, and widely spaced teeth. Other symptoms include scoliosis, and unusual gait, and thin tooth enamel. Life span in people with the condition is highly variable, though many tend to die young. Respiratory failure is the most common cause of death. To learn more about this Morquio syndrome, click here.
In 2011 Cezy was one of two kids included in trials for an enzyme replacement therapy drug called Vimizim. The drug was first approved by the U.S. FDA in 2014, and studies have shown it to be effective. However, the Health Service Executive (HSE) drugs group has failed to approve applications from the manufacturer for reimbursement. The HSE has also stated that there was not sufficient evidence to prove that Vimizim is effective. However, Deputy Bobby Aylward, who raised the issue in the Irish Assembly, says that if evidence was sufficient for other countries, than people in Ireland should be able to have access.
Vimizim is actually manufactured in Ireland and is generally available throughout the EU. The HSE confirmed that the organization had received a new application for reimbursement this past December. While it is due for consideration at the group’s next meeting, Cezy will have to be stuck waiting without treatment. In this time she will have to hope that her condition does not begin to worsen; Vimizim is the only treatment available for Morquio syndrome that addresses the enzyme deficiency that causes it.