I have always been one of those people who really does not like to share much about myself and my family, but I'm feeling inspired. July is National Fragile X Awareness Month, and because I never do anything on time I am starting my fundraising journey today. I have made a realistic goal, realizing that it is already the 8th of July (where does time go?). This is not to hinder anyone who feels inclined to donate large sums of money (hint..hint).
I guess the next step is to explain what this is all about. Basically, I would like to think that my journey with genetics and genetic disorders started out at Smith College. I began my first semester really wanting to take advantage of the "open curriculum" that Smith offered. So what did I do you ask? I signed up for a genetics class (Yup, I am crazy and there is a point to all this). The entire semester was insane and I can't promise that I retained a whole lot, but I did take away one thing...one small genetic mutation can make a HUGE impact on the life on an individual and their family. I left the class asking myself: Does this really happen to people?
Fast forward a couple of years...to about a year ago now... Wait...flashback! My son Kohen, from a very early age had developmental delays. He was evaluated by countless doctors, specialist (you name them, we saw them) trying to pinpoint the "cause" of these delays. It just never seemed like anyone could give us a diagnosis that spoke to what we knew to be "Kohen". Finally, after a 6 year journey, Kohen had genetic testing done. The results: He had Fragile X. At this moment, like any other parent, I went into shock. What would this mean for Kohen and our family?
As my thoughts settled, I could not help but flashback to my genetics class at Smith and the lasting question I had at the end of the semester: Does this (genetic disorders) really happen to people? My answer was all to humbling: It does, and it's happening to me!
Without getting into too much detail, Fragile X is a genetic disorder that is inherited through a mutation on the X chromosome. Like I mentioned before, it only takes one small mutation on one small gene, and in the case of Fragile X it is the FMR1 Gene. Fragile X Syndrome (or for short FXS) is the most commonly known cause of inherited intellectual disability, hence Kohen's developmental delays. If you want more information on all that Fragile X entails you can find them on the National Fragile X Foundations website: http://www.fragilex.org/.
So here is my plea: I have known that my son Kohen has had FXS for almost a year now. For many reasons, all of which I can't articulate, I have yet to tell almost anyone. Those who are closest to me know Kohen as Kohen and I left it at that. I guess I needed a push to share something that felt so personal. The push came disguised in many ways over the last few months, but July being National Fragile X Awareness month cemented that I needed to share Kohen (and our family's)journey.
For those of you who know Kohen, giving a few dollars toward the $500.00 goal seems like common sense, but for those of you who don't, I wanted to share our story in hopes that you would relate in some way and donate (no amount is too small). Most importantly, I wanted to bring awareness and advocate for Fragile X!
On July 22, National Fragile X Awareness day, I will run a Virtual 5K on River Rd in Deerfield in support of the "Let Em' Know Virtual Run for FX 2013" in honor of Kohen and all other individuals impacted by Fragile X. And it does not stop here, come late fall, I will be running a full marathon to raise money for the National Fragile X Foundation with a goal much higher that $500.00.
Thank you in advance for all your love and support,
Ashani and Kohen