Christopher LaRosa (Barnegat, NJ)

Our son Christopher was diagnosed with Fragile X Syndrome when he was 2 1/2 years old.  He is nonverbal, and has always been faced with challenges due to developmental delays and behavior issues.  We have always tried to include him in everything we do as a family.  However, at one point he was just so uncomfortable that it wasn’t fair to him.  We stopped going on vacations, out to dinner, starting saying no to invitations for parties or special occasions, and we dreaded holidays.   At school he was impulsive, had a limited attention span, and was hard to keep him on task.

We enrolled him in the Arbaclofen (STX209) drug study.  During the Phase I part of the study.  We saw small changes in him.  We believe that he was on a small dosage.  He was calmer, and not as noisy.  He would look us directly in the eyes to get our attention because he wanted to try to speak to us. He was hugging us on his own without us asking.  Each one of these happened slowly and we didn’t realize the amount of positive changes that happened to him until that part of the study was complete.  As we weaned him off of the Arbaclofen …. He slowly started to pull away again.  He began to regress at home and at school.  Each of the positive changes had disappeared.

We were delayed three months from enrollment to the start of the Phase II the extension part of the study.  This was when we realized how much it was helping Christopher. We couldn’t wait to get the Arbaclofen back for him.

When he began the extension study the sparkle was back in his eyes.  He was so happy, playful, less anxious, less impulsive, social, following multiple step instruction, and doing exceptionally well in school.  He was doing a tremendous amount independently. He was no longer asking us or waiting for us to help. His speech therapist was getting sounds and words out him that she/we had never heard before.  In addition, he was putting together full sentences on his iPad.  This made it possible for him to tell us how he was feeling, what he was thinking,where he wanted to go, and who he wanted to see.  He actually started asking for his grandma. The hugs were back and stronger than ever.  He was so proud of himself, showing off his schoolwork, or showing off his new found dancing skills, and enjoying baseball and basketball.

Last March were able to bring him to his first large family party.  I would say there was about 200 guests there.  We had always declined invites, but since the Arbaclofen we thought we would give it a try.  We did not have to force him to walk in, he was smiling, dancing, and wanted to be a part of everything.  It was so nice to be out as a “complete family”. I had so many relatives complimenting on how great he was doing, and how proud they were of him.

Three months later this was all gone again.  When the trail was abruptly terminated due to funding.  This time the results were more dramatic.  Most behaviors and regressions happened on week two of titrating off the Arbaclofen.  But saddest of all is, that I wonder how he feels now that he is no longer on Arbaclofen and he cannot express to me what it feels like to have it taken away. Please help us,and so many others get this back or passed by the FDA.