February 2005
Do movies imitate life or does life imitate movies? That question seems as obscure as “what came first, the chicken or the egg?”
The movie “Groundhog Day” has had a strange influence on my thoughts lately. I keep thinking about the number of days Bill Murray’s character had to relive the same day, over and over again, until he got it right.
I wonder how often we have to fight the same battles over the same injustices until we get it right. I once thought we've made progress yet reality proves different.
For instance, I was dumbfounded when I was told about a situation a high school student, in another community, was facing.
The student is a young lady confined to a wheelchair. Her school informed her that for her upcoming commencement ceremony this coming spring, she will not be able to go across the stage to pick up her diploma, like all of the other students. They will bring it down to her, school officials said. The school’s wheelchair ramp isn’t safe, they said.
It doesn’t stop here, I often hear tales of what I consider injustices, true wrongs.
How often are people denied medical treatments because of cost? It may not matter if you have insurance; if your doctor’s suggested treatment is too expensive your health care provider may deny you access to it. It doesn’t matter that the treatment may be the most effective available. If there is another less effective treatment option, with a lower price tag, that’s what the provider will approve.
How many people with disabilities are unable to work because some employers won’t give them the opportunity? Sometimes the potential employers don’t even have the common decency to call a candidate after a job interview and explain why they didn’t get the job.
I think of a young man I know who went for an interview. His mother took him to the business, and two hours after he arrived, no one had called him in for his interview. They just let him sit there apparently hoping he would go away -- until he did.
A big part of my life is dedicated to doing whatever I can to increase awareness about fragile X syndrome. I’ll be the first to admit that I could be considered a fanatic when it comes to fragile X, the most common cause of mental retardation or in kinder words “cognitive impairment”. I still have issues with the term “mental retardation”, I’d rather not use it at all but it’s what the general public understands.
Just when I think we’re making progress I see government publications that get it all wrong. The National Institute of Mental Health published a booklet on Autism Spectrum Disorders (Pervasive Developmental Disorders) in 2004. There was a very small section that referenced fragile X syndrome.
The statement that disturbed me was “It is important to have a child with ASD checked for Fragile X, especially if the parents are considering having another child. For an unknown reason, if a child with ASD also has Fragile X, there is a one-in-two chance that boys born to the same parents will have the syndrome.”
As far as I know, there is nothing “unknown” about genetics and about which parent passes which chromosome to their child. Did the author, a doctor, fail Biology 101? If the mother is the carrier or she has a full mutation, she has a 50/50 chance of passing on the syndrome to all of her children, no matter what their sex. If the father is the carrier he will only pass FX to his daughters, all of his daughters will have it and they will only have the pre-mutation (they will be carriers).
It has absolutely nothing to do with children born to “SAME”parents.
I wish I could say it ended here but it hasn’t. I was shocked when someone told me they were informed by a doctor that they didn’t need to test their daughter for fragile X because only boys can have fragile X. This is absolutely absurd. Both males and females can have fragile X although it’s more prevalently diagnosed in males due to the increased likelihood of displayed behaviors in males.
This is my “Groundhog Day” and I hope that with my effort, and the efforts of others like me, one day we won’t have to hear the words “Fragile what?” We can right the wrongs. One day when a child has delays in achieving developmental milestones, doctors will test for fragile X and they will use the most accurate test.
We all have something we believe needs to be changed and we do have a choice. We can sit back and do nothing or we can do everything we can to create change.
“If you don't like something, change it. If you can't change it, change your attitude. Don't complain.” Maya Angelou
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