How Did This Boy Become a Rare Disease Star?

Keenan Cahill is a YouTube sensation who just happens to have Maroteaux-Lamy syndrome.

Although, after watching his channel for a half hour, he isn’t letting it hold him back from bringing smiles to millions of faces.

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A smile is a beautiful thing. Source: www.giphy.com

Maroteaux-Lamy syndrome, also known as mucopolysaccharidosis type VI, or MPS6, is caused by an enzyme deficiency. One of the most visible signs of MPS6 is short stature, but there is a broad spectrum or disabilities associated with this syndrome.

Unfortunately, skeletal abnormalities are progressive, particularly in the pelvic region, causing the person to have a hunched-over posture.

Finally, there is a treatment in the form of an enzyme replacement that holds promise for improving joint function.

The only catch? Naglazyme is among the most expensive drugs in the United States with costs coming in around $365,000 dollars a year.

But, before you lose all faith in the pharmaceutical industry, remember that it’s enormously expensive to develop a new drug, test it in clinical trials, and then bring it to market. Also, considering how rare MPS6 is, the fact that a treatment has been approved by the FDA is nothing short of a miracle.

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Source: www.giphy.com

BioMarin, the maker of Naglazyme also has a Compassionate Use policy to help patients afford the treatment.

Meanwhile, somewhere in America, Keenan Cahill is lip-synching is way into the hearts of scores of people while also raising awareness about Maroteaux-Lamy syndrome.

Well played, Keenan!


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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