Age 3
MPS IVA Patient
Alexandria, Virginia

"Every minute of every day counts for us. Because every day that goes by without a treatment, we know that MPS IVA is taking its toll on our daughter's body. We are literally in a race against time to get ahead of the damage caused by this disease, and as parents, we cannot watch this happen without a fight," said Stephanie, Annabelle's mother.

Stephanie and her husband Austin have spent the past three years in a desperate chase to find a treatment to save their daughter's life and alleviate the crippling effects of MPS IVA. This rare genetic disorder, also known as Morquio A syndrome, causes skeletal dysplasia, spinal malformation, heart and respiratory failure and other severe organ damage. Since her diagnosis at 6 months, Annabelle has braved countless doctors' visits, invasive surgery and a lifetime of pain. Others like her have been fighting the disease for years.

These patients receive constant medical attention and remedial care for their symptoms, but still await a treatment that will address the underlying cause and effects of their disease. BioMarin has developed a potential new therapy for MPS IVA which is currently in human clinical trials to test its safety and efficacy. Thus far, preliminary data suggest improvements in endurance and pulmonary function. In clinical studies for the company's similar FDA-approved drugs for MPS I and MPS VI the company observed similar measures of efficacy.

"Our greatest hope is that a drug will be available in time to help our sweet girl."