Beautiful Rainbows....Our Family's Journey With Hurler's Syndrome: Gargoylism

Monday 8 August 2011

Gargoylism

gar·goyle (gär

goil

)

1. A roof spout in the form of a grotesque or fantastic creature projecting from a gutter to carry rainwater clear of the wall.

2. A grotesque ornamental figure or projection.

3. A person of bizarre or grotesque appearance.

gargoylism (n.) - hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation

Gargoylism. Go ahead, Google it (or use the search engine of your choice). I'll wait...

You probably came up with around 87,000 hits. 87,000!!

Gargoylism is a term for Hurler's Syndrome (MPS 1H) and is still used today.

This is a Gargoyle:

And this...

This is Caleb. He has MPS 1H

This is Chiara. She has MPS 1H

This is Torie. She has MPS 1H

This is Sophie. She has MPS 1H

This is Cody. She has MPS 1H

This is Jakob. He has MPS1H

And of course, Miya. She has MPS 1H

Gargoyles? I think not.

I have been trying to think how best to describe the way I feel when I hear that awful term. Gargoylism. Yuk. The feeling I get in my heart is a terrible, sinking feeling.

I came across what must have been a student's project for school or a biology class of some sort as I was posting videos of Miya on YouTube. (Click here for the link.) This was posted just last year!! Last year!! It brought to my attention that this horrible, degrading, archaic word is still being used today to describe beautiful children like the ones you see above. (By the way, I do have the parents' permission to use these photos, in case you were wondering.)

It is my hope that when someone searches the term "Gargoylism", maybe they'll come up with this blog post. And click on it. And stay on it long enough to scroll down, and see that these people aren't gargoyles. They're kids. They're people. One of them is MY kid!!I admit, this once was a term used to describe MPS 1...

BEFORE THERE WAS A NAME FOR IT!!!

If you're reading this for a school project, or for research purposes, or whatever, please, please, please think twice before using this horrible, derogatory word in your essay or paper or presentation. These are people! They have families and friends who love them very much. They are loving and love to be loved. They are regular people who like to do regular things, and just happen to have a terrible illness. That illness has a name. It is Mucopolysaccharidosis Type 1H also know as Hurler's Syndrome. Please use the correct term instead. We as parents of children with MPS 1H thank you. Our children thank you.

2 comments:

Em Wye-Williams8 August 2011 at 21:32
WHo could look at those amazing children and think of using the dreadful word! They are all beautiful children, God's blessings to all effected by this syndrome x
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The Meme Machine12 November 2011 at 21:22
Thank you for sharing this info. I'm a student and was curious to see images of affected people with this illness and your page put it into perspective for me. I'm taking a microscopy class (urinalysis) and Hurler's Syndrome is one of the illness detected by newborn/infant urine screening. Praying for your family and all those who are affected by this illness. God Bless and stay strong!
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About MPS 1H (Hurler's Syndrome)

Mucopolysaccharidosis Type 1H (aka Hurler's Syndrome) is a rare, genetic disease. It is passed down from both parents, who carry the recessive gene. It is progressive and fatal. The following is from this website: "Developmental delay is evident by the end of the first year, and patients usually stop developing between ages 2 and 4. This is followed by progressive mental decline and loss of physical skills. Language may be limited due to hearing loss and an enlarged tongue. In time, the clear layers of the cornea become clouded and retinas may begin to degenerate. Carpal tunnel syndrome (or similar compression of nerves elsewhere in the body) and restricted joint movement are common. Growth in height may be initially faster than normal, then begins to slow before the end of the first year and often ends around age 3. Many children develop a short body trunk and a maximum stature of less than 4 feet. Distinct facial features (including flat face, depressed nasal bridge, and bulging forehead) become more evident in the second year. By age 2, the ribs have widened and are oar-shaped. The liver, spleen, and heart are often enlarged. Children may experience noisy breathing and recurring upper respiratory tract and ear infections. Feeding may be difficult for some children, and many experience periodic bowel problems. Children with Hurler syndrome often die before age 10 from obstructive airway disease, respiratory infections, or cardiac complications."

In a person with MPS 1, the body doesn't produce an enzyme called alpha L-iduronidase which is needed to break down long chains of sugar molocules called mucopolysaccharides. Mucopolysaccharides are long chains of sugar molecule used in the building of connective tissues in the body. Since the body can't break down and recycle these cells, they remain stored in cells in the body causing progressive damage. Storage affects bone, skeletal structure, connective tissues, and organs (including the heart, lungs, liver, spleen, and brain). Although there is treatment, there is NO CURE. (For more information, please visit www.mpssociety.org or www.mpssociety.co.uk For peer support or information on MPS, please visit the MPS-ML Forum
For more on Miya's Story, click here

Beautiful Rainbows....Our Family's Journey With Hurler's Syndrome

Monday 8 August 2011

Gargoylism

2 comments:

About MPS 1H (Hurler's Syndrome)

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