7/22/2011

National Fragile X Awareness Day


National Fragile X Awareness Day

Oh, I'm aware alright.  I'm aware that every day is a monumental challenge for my son who was born with Fragile X Syndrome and Autism.  I'm aware that I am a carrier of the Fragile X gene, that I am the one who passed it to my son, and that I will more than likely be his primary care provider for the rest of  MY  life.  I'm aware that I have daily concerns about how people treat him when he's away from  me.  I'm aware that I was never offered genetic testing before having children so that I could make an informed decision based on the findings. I am aware of the reason it took me EIGHT years to conceive my second child (a Fragile X related disorder*).   I am aware that my Dad  more than likely died after years of suffering from a Fragile X related disorder**.  And, I am aware that I could do the same thing.  I have firsthand knowledge of the pain and strain it will place on my family if it happens.

I am aware that almost everyone's response when I say "Fragile X" is "Fragile what?"  Even medical  professionals!  Fragile X -- you should know -- everyone should know.  For goodness sakes, 1 in every 129 women and 1 in every 350 men are carriers of the Fragile X gene!  That’s a lot of people!  And it will continue to grow if more people are not made aware and tested.  It can be in your family and you don't even know it's there, like mine.  It can affect many generations because it multiplies each time it passes to the next person in your family.....until one day it shows up in your child, your grandchild, your parents.  And as a friend said yesterday, knowing you've passed this to a loved one can "rip your heart out."  I have firsthand knowledge of the pain it can cause in a mother’s heart.

This may SOUND more negative than I usually like to be, but it needs to be said in an effort to wake some of you up.  Josh is almost 18 years old and to my knowledge, my children and I are the only people in my family who have had a Fragile X DNA test.  And as you’ve probably figured out by now, I have not kept it a secret.  They all know.  Even my parents didn’t want to be tested before they passed away because they didn’t want to live with the “burden” of knowing which one had passed it to me.

Having said all of this, I will switch gears and add that I am aware, very aware, that I have been truly blessed, perhaps beyond comprehension for most.  For some unimaginable reason, God trusted me with this.  And, it is huge!  What I do with it is what matters.  If I can wake up every day and know I've done something to make others aware of the things I've learned the hard way (and most of it before Al Gore invented the internet! ***), then I can feel good about myself.   If I can do things in my life that foster acceptance and eliminate shame and awkwardness toward those of us who are a tad different than the majority in our communities, then I can feel good about myself.  If I can love and nurture my son and recognize the gift he is every day, then I can feel good about myself.

I have incredible friends and family who embrace us in their lives every day.  It is amazing for me to have the opportunity to share in this blog, on Twitter, on Facebook, and everywhere I go with my son.  But....when I see my friends who have nothing to do with Fragile X, other than having me as a friend…{insert the ugly cry}…when I see them share links and facts and videos about Fragile X, and I see them change their profile picture on Facebook to the Fragile X Awareness Day logo, well…{insert more ugly cry}….I feel really blessed and really good about myself.

*FXPOI - Fragile X Associated Primary Ovarian Insufficiency (early menopause/difficulty with fertility in carrier females)
**FXTAS - Fragile X Associated Tremor/Ataxia Syndrome (progressively worse tremor/balance and memory problems in carriers over 50)
***For my friend, Mike Hanna

3 comments:

  1. I've often said the same thing! Some power greater than all of us, trusted us with these kids and that in itself is a blessing.

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  2. Another great blog, Angie - YOU ROCK!!!

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