Rhett Murphy (Holton, KS)
I am a stay at home mom with 3 boys, 2 of them are affected by Fragile X Syndrome. One of them was eligible for and participating in the STX209 study, until May 15th.
Since the time of my children’s’ diagnosis in 2004, I have never expected a cure or a miracle “fix”. All I ever hoped for was for them to feel “normal”, for them to not be so anxious, for them to not feel so different than their peers.
My middle child is 11 years old, his name is Rhett. In November, my husband and I decided to enroll him in this study, which is no easy decision. Why did we enroll him? Well at 11 years old and in the 5th grade, my son has no friends; he walks out of the school every day alone. He plays at recess by himself. He is bullied and made fun of, he is withdrawn, and he is anti-social. He stays to himself most of the time. He doesn’t join in when we have guests, holidays or birthday parties at our home; he prefers to stay in his room during those occasions. He gets very easily frustrated; he pinches and scratches, to the point of drawing blood. (This is mostly directed toward my husband or me). But he has lashed out at his brothers and even sometimes his classmates. He also has paranoia, if he hears someone talking, whispering, or laughing, he assumes it is about him; this leads to a meltdown with verbal attacks, physical attacks or both. So those are some of the reasons we decided to join the study.
We started the double blind study in January. Within the first 2 weeks we had a birthday party for his younger brother and our annual Super Bowl party (both involve guests and noise) he did not however retreat to his room, he stayed with us, he participated. Two weeks after that I sat in my vehicle and cried as I waited for him to walk to the car after school. For the first time ever, he walked out of the school with two other boys (classmates) and they were talking and laughing with one another. It was later that same week that he told my husband that the kids at school were not making fun of him anymore.
A month later he came home and told us he was going to try out for his Spring Program, it was about this time that we realized the physical attacks had basically stopped. It had been a while since either my husband or I needed peroxide and band -aids for a scratch. He attended a Cub-Scout lock in at the Omaha Zoo, where he laughed and joked with the other kids. He had a great time.
He ended up with a small part in the Spring Program, he was so excited and he did awesome! The program was 7 days after ending the “double blind study” and beginning the open label extension. He then surprised us again by telling us he was going to try out for the 5th grade, end of the year, talent show. He made it into the show, singing a solo. I went to the school to watch the show, he got scared when he saw the crowd and sat back down. Then something amazing happened, his classmates encouraged him to get back up and try. Two girls from his class actually went on stage with him, just to simply stand beside him while he sang. Well, it worked, he sang, and then he (and the girls) got a standing ovation from their entire class. I had never in my life witnessed something like that; there was hardly a dry eye among the adults in the room. I have never seen him so happy in his entire life as when he finished that song and looked out at the crowd.
A few hours later I received the news that the study was ending immediately, due to lack of funding. I am sad, I am hurt, and my heart is breaking. As Rhett finishes school we have to begin weaning him off of this medicine. Not a “miracle drug” , but a medicine that made a difference, made him feel “normal”, made him feel worthy and gave him the courage to join in.
I, his mother, now have to take this new way of life away from him. It isn’t fair. Our only hope it seems right now, is that Seaside will somehow be able to present their data to the FDA for approval, and the data will be favorable enough for them to approve it. So I, and many others around the globe, can one day in the future hand my children this medicine again and we can all dream of the things we once were told were impossible.