Hunter Syndrome 2.0

Posted Friday December 07, 2012 by Melissa

It's a New Day

I had a great conversation a few months ago with my friend Chris Dutcher, an adult with Hunter Syndrome.

Now if you’re a friend who may only know Case’s “version” of Hunter Syndrome or MPS II, you might ask, “An adult with Hunter Syndrome? And you can have a conversation?” That’s not a joke. I know some may not realize that somewhere between 10-30% of those with Hunter Syndrome do not have cognitive impact and can live into adulthood (albeit with the physical effects of Hunter Syndrome, which can be quite severe).

So as background to understand our conversation, you might have heard of the concepts of Web 2.0 or Medicine 2.0 as indications that these technologies or industries have entered a higher level of functioning or understanding.

We were discussing the intrathecal clinical trial and he made the insightful comment that Case was now of the generation of Hunter Syndrome 2.0.


The reality is that now Hunter Syndrome may not be a death sentence.

We have Elaprase which can stabilize many of the physical symptoms. Although we need advances that can assure that Elaprase is equally effective for the various genotypes of Hunter Syndrome (which can be caused by a myriad of deletions, nonsense, and missense mutations in the genetic code), but hopefully we’re on our way to that as well. So children who are started on Elaprase young enough can potentially save their body from much of the physical damage of the disease (airway, heart, joints, nervous system, and other organs).

Thus … the importance of early diagnosis and ultimately, newborn screening.

It's a New DayAnd now we have Idursulfase-IT, at least in the clinical trial setting. It has stabilized my child and as I describe it to people, I feel like it has taken us from death to life. Powerful.

Thus … the importance of taking this drug to a Phase III clinical trial and hopefully FDA approval as quickly (albeit safely) as possible.

Welcome to Hunter Syndrome 2.0. Let’s work to bring it to as many boys as possible.

In the next 10 years, I’d love to welcome you to Hunter Syndrome 3.0 … a cure.

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