Taking Out the Garbage


How many of you had chores or an assigned job when you were a kid? My first "job" was to set the table for dinner. I graduated to doing the dinner dishes until I ate so many dinners at my friend's house, my mom came up with a new plan.

In all the jobs I did around the house growing up, I never had to take out the garbage. But that's what I want to talk to you about. My husband has a rare disease called Hunter Syndrome (not to be confused with Jim Kelly's son Hunter who also had a very different rare disease). It is part of the MPS family of diseases - and it has to do with garbage and recycling...in the human body.

MPS stands for mucopolysaccharides. You can see why they abbreviate it! Mucopolysaccharides are long chains of sugar molecules that are found throughout the body. When someone has MPS, they lack an enzyme which breaks down these sugars. So, the sugars do not get broken down. In other words, the "garbage" doesn't get taken out. Even worse, the body is not recycling. Enzymes break things down, very similar to recycling a material.

There are anywhere from 1000 to 1300 different enzymes in a single cell, and a staggering 75,000 enzymes in the human body. It is amazing that by lacking just one of those enzymes, this disease can occur.  Even though I never took the garbage out growing up, someone always did. But with MPS, that one little enzyme that is lacking is the garbage taker outer (or recycler) for, well, MPS sugar molecules. He is the only one who can take out or recycle that specific molecule. When that enzyme is missing, those specific molecules don't get recycled. They accumulate in every cell and cause damage over time.

There are 7 known types of MPS today. Each type lacks a different enzyme which breaks down a different type of sugar molecule. 

My husband and my nephew have the attenuated (mild) form of MPS II. Research has been able to identify the specific enzyme they lack, and develop a replacement enzyme. This didn't cure the disease, but it has helped to slow down the progression and extend MPS II patient's lives. 

On Friday, December 20, I participated in a Jingle Bell Disney 5K Walk and was able to raise over $600 toward future research. Thank you for visiting this page and learning more about this rare disease.
At the Jingle Bell 5K

You can go to the this secure link to give support and learn more.


Our family in 2017. Wayne, pictured in the green sweatshirt, has MPS II



3 comments:

  1. Thank you for this glimpse into some of the challenges your family faces. I appreciate your transparency.

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    1. Part of my reason for including this is to help promote awareness since it is such a rare disease. Thank you for reading it.

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