Austin Nantais (Wyandotte, MI)

One story, One voice
By Sally Nantais

How can one story convey the hopes, dreams or fears and sorrows of not only one family’s journey but many families journey? I’m not sure I can do that but I know I’m not alone. There are many before me who have walked in my shoes and many more who will follow. I struggle with where to begin and cannot provide an ending, because I don’t know how it will end; will we come close to happily ever after or will it be never ending nightmare? Only time will tell. This is a story older than time because it comes down to one constant, that no matter what, money matters and that never changes.

One must start at the beginning. Austin is my second son, born in 1992. At that time we had never heard of fragile X and we had no idea it was silently lurking in my family for four generations. If I would have never remarried, if I would have never had more children (which was a miracle in itself since due to endometriosis my doctors believed my child bearing days were over, especially after one surgery with the partial removal of one ovary), fragile X would have ended with me; my family would have never known it existed. Yet that was not my fate that was not my destiny.

Austin was diagnosed in 1997. As with most families newly diagnosed there was not a single medical or educational professional within my area who understood fragile X and yet I naively put my trust in them, thought they were experts, thought they could guide me.

When Austin was little the difference between him and his peers was not that great. With a consistent, non-threatening home environment I really didn’t understand how crippling his anxiety was. Going to school changed all that, behavior problems began at first only in the school environment and slowly leaked into the home environment. To this day I wonder if life would be different or the same if I never sent him to school, a “what if” that will never be answered.

In 2000, thirteen years ago, we started exploring the use of meds to assist Austin. It’s been a long trial of finding the right meds for Austin that work for the long haul. Medications were not something I jumped into lightly; I weighed out all risks and benefits and realized that if there was something out there that could help not finding it, not using it, would be the bigger mistake. We’ve had more than our share of honeymoon periods with meds and I’ve always tried to work with doctors who trust me to be an expert on my child, and to be a good judge of what is or is not working. I’ve often, I hope, encouraged them to think out of the box. I’ve kept a medication journal through the years that lists what we’ve tried when and how he’s responded, it should justly be named “The Good, The Bad and The Ugly”. At this time it is almost ten pages, far too much to detail to provide here. Through it all though, I realize how very important the environment is as well, all the meds in the world may do little to help if the environment doesn’t meet the child’s needs. Yet sometimes the perfect environment, the best meds on the market today, still won’t change biology for everyone, still don’t make a big enough difference.

Some of the not too pretty highlights over the last thirteen years involved a bad experience in school, when the environment was so very wrong for him. With staff more or less punishing him for his disability, because he used behaviors as a means to escape and I doing what any mom would do, being my child’s advocate the situation turned ugly when I was turned into Children Protection Services (CPS). It was at that time I realized they were not experts on my child nor his disability. It took me years to get past this event without crying; the thought of not only losing Austin but his two sisters was not an event to take lightly. Thankfully the system did what it needed to do, finding the claims false. Oddly enough, years later, I’m thankful for that experience, it was my wake-up call to become the expert on my son and be even a better advocate for him. After that incident, in the summer of 2001, I quit working, dedicating myself, and my family to not only making Austin’s life better but others too. Almost a decade later, when a friend called in tears because the school turned her into CPS I was thankful I could support and sit beside her in meetings to advocate for her son.

We had our highs and lows with medications, we were on our medication cocktails, and at one point he was even hospitalized because we needed to do something, anything, to make changes quickly or I feared I would lose him forever. The decisions was made rapidly one day while at a doctor’s visit he struck me across the face and all I could do was sit there and cry. Talk about heart breaking, be thankful you’ve never had the experience of seeing your son being transported by ambulance to a psych hospital and having to tell him you can’t take him home yet during one of the limited visits.

We did get back on track. Some honeymoon periods lasted longer than others. During the process I had to become well versed in understanding the meds we were using and possible side effects. I remember vividly one day sitting in a Psych’s office when we were going to remove a medication. It was an SSRI and I had during the past year watched a documentary on withdrawals related to SSRIs. The doctor told me to just quit giving the med, he noted “how bad can it get” to which I replied “you don’t have to live with it do you”, he then let me slowly wean him off. It was not the first, nor the last, time I questioned a doctor’s approach.

In April 2009, we had the opportunity to participate in a clinical drug trial, STX209, Arbaclofen. I had been waiting for this opportunity since I had been following Dr. Mark Bear’s work since the beginning of the decade.

It couldn’t have come at a better time, it appeared we were heading towards the end of another honeymoon period and sadly I feared we were running out of options. We were on 30 mgs of Abilify a day, 300 mg of Trilepal twice a day, and 50 mg of Zoloft once a day. All meds he was on was to address mood stabilization. We were at a point where I worried that I would no longer be able to manage my son’s meltdowns that I would no longer be able to care for my son. Austin was no longer that little tyke that I could easily manage, he towered over me.

While meltdowns were occurring more often, in the home environment I was even more concerned because I was no longer the sole target of the aggressive behaviors. I hate sharing the dark moments; I worry about my son’s self-esteem and his image. I fear others will focus on the beast and not recognize the prince charming who is often hiding within. Yet, with Austin and I there is always one constant, no matter what, I will always love him, I’ll always see prince charming even if he’s lurking in the darkness.

Being a double-blind placebo trial we had no idea, nor did the doctor, of what we were on when, until long after the initial trial period. During our first four-week cycle, as it turns out we were on placebo. When it was all said and done I told Dr. Elizabeth Berry-Kravis, our primary investigator for the clinical trial, for us, if this was the med cycle, it wasn’t a wonder drug, it wasn’t the magic pill, it didn’t create a “Wow” factor, and it just wasn’t the right med for us.

We had to have at least a four-week downtime before we started the next four-week cycle which took place in July 2009.

Some might think it was the placebo effect, some might say I was seeing things but on our drive home from Chicago, with only two doses of the med, I witnessed something very positive.

First, one must realize going to Chicago, there and back in one day is about a 12 hour adventure for us. We were almost home, just four miles away and we got caught in a traffic jam. If there is one thing Austin knows it is his routes. He knew where we were, he knew how close we were to home. In the past a little traffic jam like that could create a major meltdown, a time when mom wishes she had eyes in the back of her head to be on the lookout for flying objects. We had no meltdown, that was the first sign of many that maybe we found something special.

Study visits at the time were every two weeks, in the previous four-week cycle we had minor to moderate meltdowns in the garage, elevators or waiting area. Austin struggles with waiting and transitions, especially when it involves unknowns. After navigating through Rush University, a couple of trips on a couple of elevators, I witnessed additional improvements. Before he was very agitated, by the time we would get to the office waiting area I would need to be very quiet and keep my distance, it reduced the possibility of me being a target. During the four-week cycle on the med I was kissed numerous times during our walk and elevator rides, he told me how much he loved me often and it only got better from there.

Mom wasn’t the only one who noticed the positive changes in Austin; it was captured in his progress report for his extended school year program in the summer. Prior to the summer program, Austin had been in his own classroom, with his own teacher and his own aide, he needed the one-on-one instruction and the quiet environment to succeed. During the summer he was integrated into a classroom with twelve students with various disabilities. This was a huge step forward for Austin. The end of the programs progress report said it all, he improved in ELEVEN different areas. I’ve never cried, sobbed, so much over something so good!

I’ve lost track of our trips to Chicago, somewhere between 25 and 30, over 15,000 miles and it’s been a wonderful journey. We’ve had our routines, Mickey D stops for breakfast and dinner, yet Austin even let me break the routine a few times.

The changes in meds alone made our participation more than worthwhile, at least now I don’t feel like we’ve ran out of options since we are only on 10 mgs of Abilify a day along with his STX209 dose.

This year we had to make three trips between January and April. We had been in the study so long our visits were every 12 weeks, some individuals who entered the study extension well after us weren’t on that schedule. In this round of the extension they wanted all families to have the same number of visits, so we had to play catch-up.

January was a great journey because we tried something different, we took the train. Over the last four years we’ve gotten caught in our share of bad weather so I decided to leave the driving to Amtrak. It worked out perfectly since on the day that would have been our travel day there was a major ice storm; we would have never made it driving to Chicago. Austin did so well, such a great traveler. We took a taxi from Union Station, spent the night at the Palmer House Hilton (mom got a great deal with taxes less than $100 for the night stay). We had dinner at Rudy’s Grill, which happened to have the Wings/Hawks game on. Austin was a little startled when the Hawks scored, the lights flashed, and the horn sounded at the bar but he did very well. Mom was thankful the Hawks didn’t score more while we were there. The next day we took the “L” to Rush University, with the passing of time, Austin and I can navigate around the city almost as well as the residents. When we were all done we hopped on the “L” again to get as close as we could to Union Station, we still had a small hike but Austin had his Mickey D radar going (seems like he can always spot one) and with time to spare we stopped on our way. I’m so very thankful for this adventure; it’s one of those rare opportunities in which I can teach Austin a little about my world while taking into consideration how challenging my world can be for him at times. And at times there are moments when I have a renewed faith in humanity, when a simple act of kindness by a stranger, the act of holding a door, waiting patiently as he navigates the steps or giving up a seat to accommodate Austin on our journeys, demonstrate that there are people out there who care. We were not treated like outcasts, we were treated with kindness which far too often is rare in many daily routines.

If I knew all that would happen, including the tragic end of the study, prior to FDA approval (which I can only pray will happen soon) I would do it all over again.

Very soon we will be taking STX209 out of the picture; it’s already had a negative impact on our lives. We hoped to participate in a communications and language four-year study at UC Davis but with the announcement on May 15th I cancelled our participation on May 16th. There is just no way I can travel across the US in the midst of a medication change. Summer plans have been put on hold, I need to protect my son’s identity for fear others may only see the beast.

I’m not sure what will happen, I will expect the worst and hopefully when it’s all said and done I can look back and be pleasantly surprised, but I will be prepared. I’ve started behavior charts so I’ll have a benchmark in black and white of what the behavior looked like while on the med and what it will look like off of the med.

I know it was with a heavy heart that Seaside had to make this decision and I also know they haven’t given up either, they are still looking for potential funders. I only hope that it would happen in time to save the STX209 study but it doesn’t look like that is going to happen. No matter what their work needs to continue because they are actively looking for treatments that will not only change my son’s life for the better, but our families as a whole and many other families who share in our struggles no matter what their diagnosis.

I don’t have to have a cure, it would be nice, but what I really need is just something that makes his life a little better, we found that with STX209. For Austin, improvement could mean the difference of him residing in a group home later in life or living independently with supports.

I’m frustrated with the bureaucracy, the time trials take, when often most of us living through the struggles, the conditions, are simply running out of time.

The frustration only continues when I take into consideration that STX209, Arbaclofen, is based on a medication that has been in use since the 1920s, which has a very good safety record. Then I think about the number of supplements on the market which have never gone through such scrutiny and one only needs to turn on a TV to get a different perspective, sympathy for the pharmaceuticals, when all anyone needs to do is call 1-800-Bad-Drug. I don’t think one needs to be a rocket scientist to understand that there is something very wrong with this picture.

I’ve learned a lot from this experience, and with all that has happened we would still jump into another clinical drug trial with no hesitation. Time is off the essence. Having most of my children later in life the reality is I’m a lot closer to 60 than I am to 50, I’m running OUT of time. For Austin, and all the children/adults like Austin, I’ll work as hard as I can so when I’m no longer a part of his everyday life I’ll know that I have done as much as I could to make his world a little better when I was and for even more importantly when I won’t be there.

We have no choice but to move on, weather any storms alone and feeling helpless. No one ever wants to go backwards but that is what Seaside and Roche are forcing us to do without funding to continue. I hope you’ll not find me cowering in a corner or worried about how to hide the bite marks or scratches I’ve endured. For now I will simply chuckle about the scratches because in reality I’ve often forgot to cut his fingernails, and that has been truly a measure that we’re doing more than just okay. While on STX209 the fingernails have probably gotten a little too long too many times. Maybe in the next study they should measure the length of the fingernails, the longer the better. Maybe we need to go back to the drawing board to really figure out how we measure progress, how we measure improvement, because what may seem like a very little to you, or government agencies could be monumental in not only my life but Austin’s too.

Please pray for us, pray for the happily ever after.