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Elaprase, Shire’s enzyme replacement treatment for Hunter syndrome, is one of the most expensive rare disease drugs, costing between $300,000 and $400,000 per year. Hunter syndrome is one of more than a dozen mucopolysaccharidosis (MPS) diseases, all caused by a deficiency in an enzyme needed to break down sugar molecules. Lisa Jarvis/C&EN
Four-year-old Justin Leider, one of only a few hundred boys in the U.S. with Hunter syndrome, patiently awaits his weekly dose of Elaprase, administered through an intraveneous port in his chest. Lisa Jarvis/C&EN
A nurse gives Justin's older brother, Jason, his Elaprase. The boys carry backpacks containing an IV bag with the drug, which is infused into their bloodstream over the course of four hours. Lisa Jarvis/C&EN
Justin and Jason’s weekly treatments of Elaprase address just some symptoms of Hunter syndrome and cannot stop the neurological damage it causes. Their parents hope to get the boys into an upcoming intrathecal enzyme replacement therapy clinical trial, which will deliver the drug into their spinal cavity. Lisa Jarvis/C&EN
Melissa Hogan’s son Case, who also has Hunter syndrome, has been in Shire’s intrathecal enzyme replacement clinical study, which delivers the enzyme he is missing directly into his central spinal fluid, for two-and-a-half years. Hogan has been excited by Case’s mental and physiological improvements since he entered the trial. Lisa Jarvis/C&EN
Once a month, Hogan brings Case to the University of North Carolina, Chapel Hill, where he’s briefly anesthetized so Joseph Muenzer, who runs the intrathecal trial, can give him a new dose of the drug. Lisa Jarvis/C&EN
Each month, the essential drug is injected into Case’s spinal fluid. Because Case has two ports, one for intravenous delivery of Elaprase and the other for intrathecal delivery of an enzyme, his parents opted to get a medical tattoo to avoid confusion. Lisa Jarvis/C&EN
Case, who loves his red cowboy boots, rests after his monthly dose in the intrathecal trial. He is observed for several hours to ensure he isn’t experiencing any adverse effects. Lisa Jarvis/C&EN
Four-and-a-half-year-old Jonah Weishaar has another kind of MPS disease, called Sanfilippo syndrome type C. Because it affects only a few dozen kids in the U.S., no treatments exist for Sanfilippo type C, which causes neurological deterioration that will ultimately cost Jonah his life. Dodi Holm/Rustic Pear Photography
Jonah’s mom, Jill Wood, is fighting for her son’s life. She has started a foundation, Jonah’s Just Begun, to support academic drug discovery efforts, as well as a biotech firm that could develop treatments if no one else will. Dodi Holm/Rustic Pear Photography
Wood lobbied Congress earlier this year for more government support for rare diseases. Although legislation that passed last year provided important regulatory advances for companies developing rare-disease drugs, patient advocates say more financial support is needed. Lisa Jarvis/C&EN
