Grady Friedman (Flagstaff, AZ)

After receiving our son Grady’s diagnosis on his 18-month birthday a mere 13-months ago, we were devastated and fearful about what his future would bring. We were consumed by the fear and uncertainty about what his life would be like. Would he ever speak? Would he have friends? Would he ever be able to work and live independently? The list of fears goes on and on. We never expected to receive such life-changing news. We quickly found ourselves connected with other families like ours; almost immediately we began to feel hope. We began to feel hope because we learned about the current direction of Fragile X research, and the number of clinical trials available to affected individuals. We heard the before-and-after stories of many families; the results were inspiring, and life altering to say the least.

Our son is only 2-years old, so he is unable to participate in drug trials at this point. I know that I speak for our whole family when I say that we are so thankful to those families that have made the decision to participate in clinical trials. We know this process is not easy for them, as it often includes weaning off all other medication for a period of time before starting the clinical trial. This period of time is quite difficult for most families, yet they trudge on.

The STX209 study using the drug arbaclofen has been a miracle drug for many, many families. Children who didn’t speak, now have increased vocabularies and are able to communicate wants and needs. Children who wouldn’t walk into an unfamiliar environment without melting down for hours are now able to do so with little to no difficulty. Children who suffered from violent and unpredictable outbursts now have better impulse control and no longer lash out uncontrollably. For us, seeing these results has instilled so much hope for Grady’s future.

To see a drug that so clearly works get discontinued for lack of funding is absolutely heartbreaking. While we know that these studies require tens of millions of dollars to maintain, to be so close to obtaining that higher quality of life for our children to have it stripped away is barbaric. How are we as a community supposed to go back to a lower quality of life when we know a better one exists? Arbaclofen may indeed be the key that allows Grady access to the quality of life that all parents dream of for their children. Like many in the Fragile X community, we feel like a great measure of hope has been stolen from us.