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Frank Gray

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Cathie Rowand | The Journal Gazette
Luis Perez holds his son Brandon Perez, 3, who has Joubert Syndrome, a rare genetic disorder that affects the brain.

Rare disorder a serious matter

If you’ve never heard of Joubert Syndrome you shouldn’t feel ill-informed.

Joubert Syndrome is a rare genetic disorder, identified only in 1969, in which part of the brain is either missing or smaller than normal. This results in problems such as apnea, in which the person stops breathing, poor muscle tone, poor coordination and in some cases varying degrees of cognitive impairment.

As I said, it’s rare. There is only one case in Allen County and only four in Indiana. Nationwide, there are about 600 known cases.

So, as one might expect, there isn’t a lot of buzz about the syndrome on the Internet.

Until last weekend, that is, when Jill Porter, a college student preparing an informational speech for a class, went online to gather more information about the condition. She chose that topic, by the way, because she has a 3-year-old son with the condition. He is the one case in Allen County.

Porter stumbled across something she didn’t expect. On YouTube, she discovered a video of two schoolgirls describing the syndrome and its symptoms. It was billed as a video done for extra credit in their biology class.

Let’s just say the video didn’t discuss the syndrome in a clinical fashion. The girls, one of whom periodically screams, laughed their way through a 10-minute presentation about the syndrome, making noises to explain apnea, swinging their arms to illustrate odd muscle movements, and so on.

Porter was appalled. She called it the equivalent of cyber bullying, making fun of people with the disorder and ridiculing the symptoms they suffer.

So Porter went to the Joubert Foundation’s Facebook page and posted a note expressing her outrage at the video, which apparently had gone almost unnoticed since it was posted in December.

In the last four days, the video has gotten more than a thousand views, quite possibly from people with a family member with Joubert Syndrome. Since Porter called attention to it only about four days ago, dozens of comments have been posted condemning the video as hurtful, offensive and inappropriate. Many demand that the video be removed.

Among those is Porter herself.

The identities of the girls are who made the video is a mystery. One wears a sweatshirt that appears to say Wolverine Winter Classic and shows the silhouette of a person on a horse jumping over a hurdle. Porter would like to know just a few things: Who are the girls, where do they go to school, and did they really get extra credit for such an outrageous video?

Good questions, and people would be justified in feeling outrage if the girls actually did get extra credit.

Personally, I find it hard to believe that even a couple of perhaps 15-year-old girls would have the audacity to submit such a piece of work to a teacher and expect a reward. I think it’s purely someone’s idea of a joke.

It makes one want to say, don’t you just love the Internet, the perfect home for unfunny jokes.

The video in question, as unfunny and even hurtful to families with members with Joubert Syndrome, might have actually accomplished something. It has called attention to the syndrome – and will serve as another lesson on thinking before you put something online.

Frank Gray reflects on his and others’ experiences in columns published Sunday, Tuesday and Thursday. He can be reached by phone at 461-8376, by fax at 461-8893, or by email at fgray@jg.net. You can also follow him on Twitter @FrankGrayJG.

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