David & Jonathan Wright Update (Visalia, CA)

On June 17th, Roche CEO Severin Schwan responded to our entreaties. (Please see here for that response.) We believe that there is no response more fitting than sharing another update.
 
Words are strong, but seeing – well, there isn’t much quite like that. Be sure to watch the video at the end of this update. Words cannot do justice to the heartbreak portrayed. Convincing clinical data is necessary, absolutely, and we believe that they’re stopping short of the goal line in favor of compounds that, unlike STX209, have not passed Phase II testing. The result is setting back the reality of a marketable treatment for fragile X by years.

This is the first update to David & Jonathan’s story, to see their original story click here: David & Jonathan Wright.

 

 
By Tiffany Pace

Today is day 15 of David’s down titration schedule. He has exactly 2 weeks left. He has become significantly more agitated by just about everything. He yells at everyone, including our dogs and cats, me and his brothers, sometimes for no reason that I can tell. He has been retreating to his bedroom alone more and more. He used to enjoy sitting and watching Nathan play video games or watching TV with the whole family but he’s progressively more agitated by simply being around us. He doesn’t want to go anywhere and he’s becoming more aggressive again, hitting and pushing his brothers. I haven’t seen any really major meltdowns so far but a few small ones when we haven’t seen any for a good long time. One thing I’ve noticed with David in particular is that he is spending the majority of his time either alone in his bedroom or playing on the computer with noise cancelling headphones attached to the computer so all he can hear is the game his is playing. He has less desire to play with his brothers and to be with family and friends.

Contrary to my expectations, I’ve noticed much more of a difference in Jonathan than in David as we are going through this process of weaning off of STX209. After seeing such drastic changes in David over the past 3 ½ years, I really felt that the changes we had seen in Jonathan were very minor. That was until we started weaning him off of this medication. The first 4 days seemed no different but day 6, we saw some small meltdowns and significant loss of language/speech skills. He wasn’t using full sentences anymore unless prompted. Day 7 brought the last day of school with a fun play day of games and pizza; something he had enjoyed immensely just a couple of months ago the last day before spring break. On this day though, he had 4 major meltdowns, one which lasted about 45 minutes. He was inconsolable and even when he did try to talk and tell me something, I couldn’t understand him at all. He bit me 5 times during that incident, on my arms and my shoulder. Then the next day, day 8, we went to my parents’ house to swim and have pizza for dinner. Jonathan has always LOVED going swimming at “GrammaGrampa’s” house and he seemed excited to go but once in the pool, he did not play freely throughout the pool as he has done for at least a year. He clung to the steps and even if I was holding him, refused to leave this one large step where he was playing. He WANTED to, but he just couldn’t. His struggle was visible to me and to my mom. He cried. He whined. He had also resorted to pointing and whining or grunting when requesting anything that day. No more “Mom, I want banana please” or “Mom I want swimming please.” When the pizza came and it was time to get out of the pool, Jonathan immediately collapsed into a full scale meltdown. He would not let me touch him to get him out of the pool, even though I said I was just going to hold him. After about 10-15 minutes he allowed me to pull him from the pool and wrap him in a towel and then I held him on my lap for another 15 minutes or so while he cried, screamed, and bit my shoulders. His body was shaking and he was again inconsolable. Eventually he calmed down and agreed to eat some pizza. I asked him if he wanted pepperoni or cheese pizza and gave him pepperoni when he asked for that. But then another meltdown came after he took 3 bites of his pizza and decided he wanted cheese pizza instead. That one only lasted about 10 minutes but his body thrashed around and he cried. Once he calmed down, he ate his cheese pizza and then was fine.

Jonathan’s language skills have been a major goal we have worked on with ABA therapy and at school, constantly for the last 3 years. We have made significant progress and now that he has finished his last dose of STX209, I can say that I am seeing a loss of the progress made while he was on the medication but also a loss of skills he possessed even prior to taking STX209. My hope is that he will at least regain some of those things in the coming weeks as his body adjusts to being off of STX209 but I have no way of knowing for sure what is going to happen. His anxiety is very high now and even activities like swimming, which he has enjoyed for years, have become agitating and stressful to him. It breaks my heart to see him struggling in this way, especially with activities he had previously loved and were calming to him.

My heart breaks to see these regressions in both of my sons and I mourn their abilities to express their emotions verbally to me. I mourn their impulse control which allowed them to not bite or hit most of the time and find other ways of expressing themselves. I mourn their feelings of control and joy since now I mostly see stress and anxiety on their faces. I mourn their ability to fall asleep and sleep through the night as they had been able to do while taking STX209. I mourn their ability to express who they truly are to the world because I know they are mourning that too. They KNOW what they are losing, what they’ve lost. They know what has changed and they are upset and frustrated. As a mother, I instinctively want to protect my children and right any wrongs in their lives and yet this is one thing I cannot fix for them. I feel helpless and sad but I will never stop fighting for what they deserve and what they need. I will never give up because they need my voice and my ability to fight in a way that they can’t do for themselves. I will always do whatever I can to make their lives better.