Hi, friends. Tara here.
Today we have a guest poster, Cortney AbouElSeoud. She’s my dear friend and her son was born within days of Dylan.
Her son, Ayden, was born with Fragile X Syndrome. Cortney writes about it on her blog One Day at a Time: Life with Fragile X Syndrome and Autism and advocates for continued research on STX290 via this Facebook page. I admire her immensely.
Y’all know what I do for a living. You know that I work with parents and children who struggle with behavioral issues, academic issues, and social issues. One day, I hope to receive fewer calls from parents because their children are benefitting from the important work that has been started with this clinical trial. Work that may not be finished due to funding issues.
I’d like you to read what Cortney has to say. Get to know Ayden. Join the Facebook page and share their stories with your friends. Awareness is the first step.
This is Ayden. He will be six in less than a month. He has just completed kindergarten.
If you observed him from far away you probably would notice he was smiling, laughing, and playing with other children. If you watched a little longer you may begin to notice something a little different. He may flap his arms like a bird, or pick up an object from the ground and see how it spins. You may notice this and then realize that while he appears at first glance to be playing with the other children, he is actually just playing next to them.
Ayden was diagnosed with autism when he was almost 4 years old. Almost everyone has heard of autism, but for most it will be a surprise to hear that we know what caused his autism. Ayden has a genetic disorder called fragile x syndrome. Fragile x syndrome is the most common cause of inherited intellectual impairment and the leading known genetic cause of autism. Around 1/3 of all boys diagnosed with fragile x syndrome have an autism diagnosis as well, and like autism, it is a spectrum disorder (you can be mildly to severely affected). It is caused by a mutation of the X chromosome which, when mutated over 200 times, turns that section of the gene off. This in turn causes the body to stop producing an essential protein called FMRP. Approximately 1 or every 78 women in the United States are carriers of fragile x syndrome. I am one of those women; my son inherited fragile x syndrome from me.
Ayden is moderately affected by fragile x syndrome. He has problems with anxiety, social awareness, fine motor skills, sensory input, tactile defensiveness, and is (for the most part) considered non-verbal. Last summer, around his fifth birthday, we realized that Ayden’s anxiety and focus problems were hindering him from learning and functioning at his full potential. We began looking into medication that may help him in these areas. Our choices were very limited and included things like SSRI’s and stimulants which we were very hesitant to try because of the side effects. We had heard about a drug in clinical trials for fragile x syndrome called arbaclofen or STX209. This drug is a chemically re-engineered form of an already FDA approved drug called baclofen and as such the side effects and long-term effects are well known. While the trial itself was for social withdrawal, we knew other families that had also seen improvements in other areas with their children; one of those areas being speech and language. The trial itself was a double blind placebo controlled study with an option to enroll in an open label extension once the trial was completed. All this is a fancy way of saying that we weren’t sure if Ayden would be getting the drug or a placebo nor could we control the dosing level, but if we made it through the 12 week trial we would then have access to the actual drug and be able to control the dosing within the confines of the open label extension parameters. Our understanding was that the open label extension would be available until the sponsor company either was denied FDA approval or the drug was approved and put on the market.
We decided to enroll Ayden into this trial, and within a week of his first dose we began seeing positive changes. He was calmer, his stim behaviors (chewing, hand flapping, spinning, humming) had all lessened in severity as had his anxiety. By the time we started the open label extension Ayden had shown global improvements in every area of development including speech and language. After five months of the open label extension he has started making actual friends, playing with peers, has lessened anxiety, fewer stim behaviors, increased fine motor skills, less tactile defensiveness, can isolate each sound of the alphabet, and has around 50 spoken words.
On May 15, the sponsor of the drug trial for STX209 informed all enrolled individuals that they were immediately terminating the open label extension due to funding issues. This medication that had opened a world to Ayden I dared to not dream for is being taken from us, possibly forever, and when it goes I fear the progress Ayden has made on it will disappear as well.
Possibly out of anger, or fear of the unknown, but mostly out of pure raw emotion a plan was made by some fellow parents also facing the same thing we were. We would attempt to start a media frenzy. We would share our stories, of how this medication is helping our children and what it means for us to lose it. We would attempt to gain the funding needed to move this medication through FDA approval. The task was big, but for our children we would try. We started with a booklet put together in less than twelve hours to send to Capitol Hill with a fragile x parent who already happened to be heading there on vacation. We then took that booklet and created a presence on Facebook, and then moved to a website as well. We have been featured in the Boston Globe and the New York Times as well as many other local media outlets. It was all leading up to this.
On June 10, an Open Letter Regarding STX209 to Dr. Severin Schwan, Roche Pharmaceuticals was released on our website. The letter is a plea to the company to honor an agreement with Seaside Therapeutics, Inc. (the sponsor of STX209) made in June 2012, the one that they backed out of just recently. We know our plea will only get so far without enough support, and that is why we are calling on anyone who will listen to spread the word.
You can read more about Ayden and other children impacted on our website, www.stx209stories.com. In addition, please consider donating here.