Ayden AbouElSeoud (Holt, MI)

My son Ayden turned five last summer and, in the fall of 2012, he started kindergarten. We quickly saw that he had many troubles focusing and lots of anxiety in the classroom setting that was preventing him from learning as well as we knew he could. We started looking into solutions from other families with the same genetic disorder that he has and were repeatedly pointed to one specific drug that was in late clinical trials. In October of 2012 we enrolled him in a Phase III clinical trial for a drug called Arbaclofen (STX 209) which is being researched by Seaside Therapeutics Inc. Ayden has fragile x syndrome, and this drug is specifically targeted towards individuals with fragile x. While the trial itself was targeted toward social function, we knew that many others who had been in the same drug trial were seeing other benefits of the drug including increase in speech.  We went in hopeful, but hesitant. Our son had around five spoken words at the time. To say he had them is misleading though, as to get him to use them was an effort in itself.

The trial itself was a double blind trial. We had a chance to get the placebo. There was also a chance it wouldn’t work or that he would end up on too high of a dose. The silver lining for us was that when we finished the Phase III trial we would be allowed to roll into an open label extension where we knew he was getting the actual drug and could control the dosage (to a certain extent). We almost immediately saw results in Ayden upon starting the blind trial. Within a week he was going places he would have had to be carried into kicking and screaming. Within a month he had started to use words spontaneously. By the end of the third month, we had seen improvements in every area of development.   These results were mimicked at school where we saw increases in every single area, socialization the most.  Ayden is in an autism class at school where they runs tons of data so we knew exactly how those improvements were showing.

As of today, we are on our seventh month of Arbaclofen. Ayden’s development over the past months has surpassed what we ever could have hoped for. He is speaking in small sentences. He can isolate every sound in the alphabet. He can trace all his upper and lowercase letters, and according to his testing (which was modified because he doesn’t speak) is at his grade level enough where he will actually move into first grade, on par with his peers curriculum wise. He more than surpassed every single IEP goal this year, and many of those were set high as we want him to be challenged.

On May 15, we received news that shook our fragile x community, the open label extension for Arbaclofen was to be terminated immediately. We would receive information from our clinic on how to wean our children off the medication and that process would begin no later than May 31.

I’ve often heard fragile x described as having the sound of a vacuum in your head. Consider going through life daily with that sound and attempting to speak or to walk into large rooms full of people. Imagine how difficult it would be and how easily you could become frustrated. Imagine then that there was something you could do to shut that noise off. That is how I look at Arbaclofen – as an off switch for that constant noise in Ayden’s head. Now we have to turn that switch back on. Devastated does not even begin to describe the emotions I am feeling. Terrified. Worried. Overwhelmed. Sadness. Anger. And there are tears, lots and lots of tears.

My son went from barely speaking, struggling socially, with anxiety issues, and a lack of self-awareness to a little boy who was making friends, playing with those friends, playing with toys correctly, jumping into new situations with ease, going into loud places, laughing, talking. TALKING.

We were told the open label would be available until FDA approval (or lack thereof). We were told we would have 4-6 months’ notice if they were to ever stop the open label. And instead we have a few weeks, all because of funding. That this comes down to funding when we are so close to seeing it approved is just not fair. We are looking at the possibility of not only losing the medication, but losing the advances that have been made as well. I am facing a reality where I may never again hear my son say “mommy”.

I am writing this, sharing our story with you and hoping. We need someone to help. To help Seaside finish clearing the FDA hurdles to get this drug on the market. To help with much needed funding to keep this promising drug on track and eventually getting it into the hands of those individuals, like my son, who need it the most.