Maroteaux-Lamy Syndrome Is A Kid’s Worst Enemy

I was reading an article in Rolling Stone magazine about a young internet celebrity, and buried at the end of the overblown descriptions of the young man’s activities on Vine and Twitter, was a medical term I’d never seen before. And, hey, I write for Patient Worthy where we’re all about raising awareness about rare diseases.

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So, Maroteaux-Lamy syndrome was the medical condition that was slipped into the article.

This genetic disorder occurs because of mutations in a particular gene (the ARSB gene). Symptoms vary greatly from patient to patient, but almost all children with the disorder have heart disease, and as they get older, their growth is affected and joint movement can become limited. Other symptoms that are common to Maroteaux-Lamy syndrome, which is simply put, a disease of the connective tissue, are hearing loss, thickened corneas, and course facial features.

Since 2005, an enzyme replacement therapy has been available to treat Maroteaux-Lamy syndrome. It’s called NAGLAZYME ® (galsulfase) and in clinical trials, it made a difference for the patients being treated in that it improved joint range of motion. It is, however, one of the most expensive drugs on the market, clocking in at a whopping $365,000 a year. But, financial help and support are available.

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Erica Zahn

Erica Zahn

Erica Zahn is passionate about raising awareness of rare diseases and disorders and helping people connect with the resources that may ease their journey. Erica has been a caregiver, and is a patient, herself, so she completely relates to the rare disease community--on a deeply personal level.

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