How did we get here? (A short-ish summary.)

How did we get here? (A short-ish summary.)

It turns out the whole world hasn’t been hanging on my every word! Who knew? What follows is a short version of how we got to where we are at the moment…

On May 15, 2013 Seaside Therapeutics, Inc., the sponsor of a drug trial my 9 year old son Caleb is participating in, sent a communication to clinics involved in the administration of the Phase III study stating the following:

“We regret to inform you that Study 209FX303 [An Open-Label Extension Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of STX209 (arbaclofen) in subjects with Fragile X Syndrome] is being terminated immediately. The closure of the study is due to resource limitations at Seaside Theraputics, Inc., and is not related to any known safety issues in patients dosed with STX209.”

Thus began our latest challenge. In case you’re a first time visitor, Caleb has fragile X syndrome. Fragile X syndrome (FXS) is the most common known cause of inherited intellectual disability. It is caused by the mutation of a single gene. A single gene that controls the production of a protein referred to as FMRP. This protein, most commonly found in the brain, is essential for normal cognitive function.

As the name implies, the mutation is carried on the X chromosome. I passed along my X chromosome with the unstable expansion. The risk of my passing on that chromosome (since I have two of them and only one is unstable) was 50/50. The risk of that unstable chromosome expanding to a “full mutation,” wherein the gene is turned off and the FMRP is not made, was nearly 100%. I had no idea I was a carrier, I was unwittingly playing Russian roulette with my child’s life.

I lost.

We first noticed that my son had delays when he was 12 months old and not babbling. He was eerily silent except for crying or his amazing belly laughs. We were referred to our local Early Intervention program, which provides services to children, under age 3, with delays. Caleb was 16 months old when he began receiving services. We were all expecting that he would catch up to other kids his age with a little extra help.

Then at age 22 months, we received the news that he had fragile X syndrome. We now knew that he wouldn’t catch up, in fact, he would continue to lag further and further behind his peers. There were no drugs approved for treating fragile X, and there still are not, but even then researchers were optimistic that they could find some sort of targeted treatment for the underlying mechanism. That was 7 long years ago.

Seaside Therapeutics, based in Cambridge, MA, began testing a drug that would do what researchers had long hoped to accomplish. The results from the double blind placebo controlled study were so promising that parents begged for and were granted an extension trial. During the extension each child would take the actual drug and further gains or side effects would be monitored.

When the first extension trial reached its end, desperate parents requested that the company continue to make this drug available to their children. Seaside told parents they would continue the extension trials until FDA approval was granted. Parents were able to take a breath, the drug was working and the supply would continue.

My son participated in the Phase III double blind, placebo controlled study last fall. In January we signed up for a 25 month extension. We were told that if the Phase III results, due the fall of 2013, were positive, they would seek FDA approval to market STX209. I noticed changes in my son both during the trial and the extension. I noticed increased eye contact and more speech most clearly. I was afraid to believe in the changes, I was concerned that I had fallen victim to the placebo effect and was seeing only what I wanted. During one of our many, many school meetings, his teacher and several of his therapists made observations that backed up what I was seeing. I was elated.

My son continued to improve over the spring, we did things I never thought we would do. We flew together to IL for a fundraiser, leaving his father behind, and he did fantastic. He enjoyed himself so much that he has been asking to go back since we got home. During the trip he was meeting a lot of new people; he spent a great deal of time in crowded situations. This is where I noticed that his social anxiety, the primary target for this trial, was so much improved.

He began playing with toys appropriately and not just imitating what he had seen on TV or with other kids. He began planning, he searched a Toys R Us catalog, found a NERF gun he wanted and asked for it. Let me rephrase, he begged for it. When I finally caved and let him have the NERF gun, he was able to navigate the store and search through 4 separate NERF displays to locate the gun he wanted. He did this independently. He began answering direct questions appropriately. Whereas he used to throw out any answer or word when asked a question just to stop the questioning, he now answers the question. Not always the way I’m anticipating but this new skill has allowed him to show off his sense of humor too.

Some ask me, how do I know that the changes aren’t the result of normal development? I don’t know, I suppose, not for certain, but his improvements have come on so quickly it would seem terribly coincidental that they just happened to occur after he started this drug. I wrote about his amazing progress here. Then in April, an article I wrote was published in the Bay State Parent Magazine, a local monthly. The article, “Hoping For Too Much?” shared the highlights of our experiences to that point. I ended that article with this:

“He’s changing faster than I can dream new dreams.”

And now, after 4 months of ever growing dreams, it is all being taken away. I’ve been working with some of the parents of the over 350 kids on this cancelled extension trying to find out why this happened, how this happened but, more importantly, how do we stop it from happening?

We have lobbied politicians, we have reached out to local and national media outlets, we have reached out to the company and our friends. We have gotten nowhere. We are still facing having to give up a medication that has been shown to be effective in children with fragile X (that is what the Phase II trial is for) when there are no other alternatives on the market.

There are other drugs being studied but not every child qualifies for these other studies. Besides that, how many times should a young child have to go through one of these trials? How many times do we have to pin him down for blood draws, put him through the stress of evaluations and miss school? It was so hard to sign up for this trial, but I did it out of hope that good would come of it. The sacrifices were worth it to keep research moving forward and to give our son a chance to shine as we had watched with other participants.

Now I feel that those 4 months were a tantalizing taste of what could be, it feels so cruel to take it away from him and from our family. Just imagine how hard it will be to watch him struggle with things he can do now. How hard will it be to watch him struggle and know there is something out there, beyond our reach, that would help him?

I don’t yet know what is next. I’m holding on to a slim hope that if we continue reaching out and publicizing the situation, we may be able to convince Roche Pharmaceuticals, which previously provided funds to Seaside, to provide the money needed to reinstate the extension trial, to complete the rest of the necessary phases of the trial and get the drug on the market. I cannot yet give up on that hope.

Every day as I hand him the pills I dread the day when I’ll have to stop. That day is fast approaching. I don’t know how to explain to him that Seaside and Roche didn’t think he was worth the cost. How do I explain any of this to him? He’s NINE, he’s a baby! I can’t explain any of this to him because it doesn’t make any sense. This just shouldn’t be allowed, not here in a country with so many resources.

And now…now I am angry.

And now…now I am angry.

This last week has been the most painful of my life. We began with the ending of the STX209 trial, worsened with the news that Grampy (Eric’s grandfather, who lives downstairs) had broken two vertebra in his back during a fall…a fall he took when we were visiting Eric’s mother, who is recovering from her second hip replacement surgery, and father, who is recovering from a serious work accident that is threatening to take his vision. And then…and then.

To say we are full up on worry and stress and sorrow is quite the understatement.

I cannot reverse my grandfather’s death. I cannot heal Grampy’s back or Patricia’s hip. I cannot save Frank’s eyesight. I accept reality and my own limitations. But do not say there is nothing I can do about this drug trial ending. Do not look at me and tell me I must accept it and move forward. Do not tell me to hope there is something better to come because I have two words for anyone who tries.

I may not win, I expect the odds of me winning are very slim indeed…but of all the things weighing me down and being taken from me…my son is not one I will let go of quietly. I had hoped that someone with a bigger voice than mine would speak up and support the parents who are crying out for help. I had hoped that people with more connections than I would use them to help our children. I have been let down. Hard.

I am literally vibrating with anger as I sit here and watch mother after mother cry out for someone, anyone, to listen…to stop this…to find a way to give our children the medicine they need…only to be ignored. I cry when I read their desperate words, two days into the titration…four days into the titration…and their kids are falling apart. Their lives are falling apart.

There are those who say we put our trust in people who didn’t deserve it, who didn’t have the resources to follow through. I say, they are wrong. I trusted the only people who were even trying to help us, who actually succeeded in helping us and I won’t ever regret it. Seaside Therapeutics tried to do something that they admitted from the beginning might be impossible. They developed a drug based on a theory that was made after a serendipitous encounter at a conference. They entered the Goliath world of pharmaceuticals as the David of the fragile X community.

And they failed.

I don’t care why, not really. Telling me how every penny over the last two years was spent will not replace the pit in my stomach with relief in my heart. It will not deliver Arbaclofen magically to my house. No explanation will make me accept that this is OK. It’s not.

This is not OK.

I, along with the other moms, will continue to reach out to our media connections…we will continue to call our political representatives…we will continue circulating petitions. We will use our voices to fight for the most precious treasure in our world, our kids.

Some fear that this is going to mean fewer people will participate in the drug trials. I think they are right to be worried. This isn’t just about my son getting screwed over by the process, though that is what hurts me the most. It’s about a few hundred kids getting screwed over…it’s about families having their hearts broken in full view of the entire community. In full view of those who I have been trying to convince to participate in a trial. In full view of those who suspected what I have now learned…that this process isn’t about the kids…it’s about the dollars.

So before you ask me to stop speaking up. Before you ask me to trust that Roche or Novartis or any of the other companies out there will do better by us. Promise me this…if I pick myself up, glue the shards of my heart back together and trust again…tell me they won’t fail me too.

PROMISE ME they won’t ever look at the bottom line again and decide that, in the cost/benefit analysis, my son, my heart, my community, isn’t worth the dollars it will take to get a medication that works on the market.

To honor my Papa.

To honor my Papa.

I’ve been writing blog posts in my head for days. Within hours of finding out that my Papa had passed my mind began turning to all the reasons I, and so many others loved him. None of what I was writing measured up, though, so I didn’t put any of them down on paper (or blog.) It has finally occurred to me though, that nothing I write about him will ever measure up. How could I ever hope to convey the man he was with mere words?

I could tell you he grew up during the Great Depression on a Maine farm as one of 12 kids. There were worse places to live through such a thing, he could hunt and fish and garden. He learned to eat what was available and to enjoy it. I don’t know many people who would look at me with such joy when I walked in to give him 10 lbs of liver from the half cow we had bought or get excited about a fish, planning immediately to fry it up for breakfast the next morning. Living through the Great Depression didn’t define him but it taught him to be self-reliant.

I could tell you about his service with the 10th Mountain Division during WWII. You could learn more about his service by reading about the war online though than he ever shared with us. He told just enough stories to let us know why he didn’t talk about it and we respected that. His service in WWII taught him to appreciate what he’d left behind. After the war, after his service was complete, he returned to Maine and didn’t leave again except for the odd trip to Vermont or over the border into Canada.

Instead, I’ll tell you about his wicked sense of humor.

He was a prankster of the first order but never mean spirited, that’s not easy to pull off. When he was an adult he once stopped by his father’s house and found his father sound asleep. Apparently my great grandfather was a heavy sleeper because Papa tied his toes together and left. The next day he stopped by again and said to his father, “I stopped by yesterday.” to which his dad replied in a dry tone, “Oh, I know.”

There was a punchline to every story and as soon as he reached it he would, and those of you who were fortunate enough to know him will hear this in his Downeast drawl, laugh like hell. He did that a lot, my Papa. He loved to laugh and he loved to make others laugh. This is what defines him.

Instead, I will tell you of his great love of family.

He wasn’t the type of man to tell you in words he loved you, you just knew it. I remember clearly last fall, when we thought we were losing him, giving him a kiss and telling him “I love you.” before I left after a visit. He looked surprised for a second and replied, “Well, I love you too.” I never ended another visit without that kiss or without telling him I loved him and not because I needed to hear him say it because I did know it already. I just didn’t have the same talent for telling people that without words and I needed him to know it so I said it.

Today, I’ll honor him in the way I know he’d like best. I’ll love my family, I’ll miss my home and I’ll share the last joke he ever told me.

This young guy saw an ad in the paper for a horse for sale for $50. He stopped round to visit the old guy selling the horse to look the horse over. He looked him all over and finally he asked the old guy, “Why are you selling this horse for $50?”

The old guy replied, “Well, he just don’t look right.”

The young guy scoffed, “He looks alright to me!” and he paid the man the $50.

The next day the young guy brought the horse back and said in an indignant tone, “Look here, this horse is blind!”

The old guy looked at him for a minute and then replied, “I told you he don’t look right.”

I hope that made you laugh like hell, because it would have surely made my Papa’s day to hear it.

What would you do?

What would you do?

If you were me, if you had this most amazing child…this sweet, funny child…this handsome, clever child…what would you do to keep him whole? What would you do to save his voice, his sly sense of humor, his joyous personality? Would you sit quietly while pieces of him slipped away from you? Would you accept any excuse for this loss?

Maybe the question should be, what wouldn’t you do to keep him?

What is happening right now, this sudden termination of the STX209 extension, it isn’t acceptable. I cannot sit quietly and allow this to happen to him, to my family. This child is the very heart of our family. He is the sun and the moon. He is the laughter and the pride. He is everything.

You cannot assign a value to this child, to his voice, to his life. He is precious and priceless. Do not tell me that you are sorry. Do not tell me there is nothing I can do. I have a voice and I will use it. I will fight in every way I can…even if I am destined to lose the battle, I cannot NOT fight. I cannot give up on him. I cannot give up on all of the other children who are depending on this medication for their voices, their lives.

Look at this face…

LOOK at him and tell him, sorry kid…we are just out of money, there’s nothing more to be done, we’ll let you know if we think of something though.

Look at this face…

LOOK at him and tell him, sorry kid…you have to send back those pills now. We know they help, we know you have enough for 2 more months but…we need them back now.

Could you do it? I know I couldn’t and live with it. I’m not sure I can even send them back and live with myself…

Please sign the petition, visit Change.org.

To learn more about the termination of the STX209/Arbaclofen trial please visit the National Fragile X Foundation.

 

Today, we start again.

Today, we start again.

Yesterday, Caleb turned 9. He had a party at school to celebrate and he loved it. Yesterday, I was looking at pictures of my smiling happy boy with his friends. Yesterday, for the first time, I didn’t meet one of his birthdays with a feeling of dread. Yesterday, I was not scared that another year had passed and that we were still stuck in Holland.

And then I learned that the extended trial of STX 209 is over. Done. We had heard rumors of money troubles but we all hoped for a solution and some advance notice. We didn’t get either.

I woke up this morning hoping that I was having another of those awful dreams I’ve been plagued with lately. The dreams where people are trying to hurt or kill me, after all, you couldn’t find a better way to hurt me than through my child…but it’s not a bad dream. I stood crying at the counter this morning setting out Caleb’s breakfast, which is always accompanied by a spoon of applesauce and his morning meds, knowing that we’re one dose closer to the end.

I would like to say I’m angry and ready to fight but the truth is, I’m lost. I don’t even know where to begin. I’m wracking my brain right now trying to find the answer. You cannot turn around in this town without bumping into either a Dunkin’ Donuts or a biotech firm. There are pharmaceutical companies of all sorts here and I’ve worked with many of them over the years as they’ve sought round after round of financing to keep afloat. There are private equity firms of all sorts here and, again, I’ve worked with many of them over the years as they provided round after round of financing to keep businesses like Seaside afloat. I’ve seen some of the most improbable saves and some of the most improbable failures. I know nothing in this business is guaranteed, there’s a lot of money here because it’s expensive work. Changing the world takes lots and lots of money.

But I’ve come up with nothing except this…there is someone out there who has the answer. They have the money and the heart to be our hero, we just need to find them. Please, please help me find them. Write to your members of congress, they know people! Tell your neighbor, your minister, your local paper…the more people we have looking the sooner we will find the one we need. I refuse, refuse, to believe that this is as far as the story goes. I’ve never expected a fairy tale ending, but this…this defies logic. We are almost there. In the face of incredible odds, Seaside has gotten us to the point where we can see the goal line…now we need that one person to stand up and either clear the way or give them a nice big push from behind.

One person. That’s it…please help me find that person. Please, if you have the resources to be that person…take your chance to be a hero.

We started our journey with this quote…

Oh, the Places You’ll Go!
by Dr. Seuss

You will come to a place where the streets are not marked.
Some windows are lighted. But mostly they’re darked.
A place you could sprain both your elbow and chin!
Do you dare to stay out? Do you dare to go in?
How much can you lose? How much can you win?

And IF you go in, should you turn left or right…
or right-and-three-quarters? Or, maybe, not quite?
Or go around back and sneak in from behind?
Simple it’s not, I’m afraid you will find,
for a mind-maker-upper to make up his mind.

You can get so confused
that you’ll start in to race
down long wiggled roads at a break-necking pace
and grind on for miles across weirdish wild space,
headed, I fear, toward a most useless place.

We may be lost in streets that are not marked just now but we won’t stay here long. I promised Caleb we were leaving The Waiting Place last October and I am not breaking that promise. Even if this isn’t the way we ultimately get there, we are done waiting. Done.

If you want to know what STX 209 has meant for us, read these posts: STX 209 – Phase II Trial

Happy birthday, dude!

Happy birthday, dude!

Caleb,

Dude. Are you aware that you are 9? NINE! I’m not going to whine about how fast the time is going because you keep showing me how awesome you are becoming with every passing day. I just can’t get enough. Every time I turn around you’re doing something new and amazing. Something that has me turning to Daddy and asking, “Did you just hear/see that?” Daddy’s favorite phrase is, “You’ve got to look at what your son is doing.” Mostly it makes me laugh, other times it makes me shake my head…sometimes it makes me want to cry because, you are 9 years old and 9 year old boys can have that effect on their moms. You seem to seesaw back and forth between doing exactly the right thing or exactly the wrong thing. There doesn’t seem to be much in between with you.

Yesterday, true to our slacker nature, Daddy and I began preparations for your birthday. What started out as cupcakes we planned to buy somehow spiraled into 2 varieties of homemade whoopie pies and treat bags for your friends at school. Daddy thinks that I’m the one who is responsible for that sort thing but you and I both know that I’m inspired to this madness by you. You’re big, you’re loud, you have a giant personality. You pull people in with sweetness and then knock them out with your humor. You’re exactly who I hoped you would be and half measures just don’t fit. Don’t tell Daddy but I think we are wearing off on him. Last night, when I was moaning about how much was left to be done, he told me to stop whining, “At least it’s not 2 AM!” When that is your silver lining you know you’ve crossed straight into crazy town. I think he will like it here.

Today you will be sharing those treats with your friends. They have been talking about this party for a week now, they are so excited that they get to go…that they get to be with you and celebrate you. You might not know this but you’ve hit the jackpot with your friends, kid. They are, hands down, the best friends I could have ever imagined for you. They understand you, sometimes better than the teachers do. They like you, in all your Caleb quirkiness. They are so invested in seeing you succeed that they celebrate each success as if it were their own. And, honestly, it is. They have been with you every step of the way these last two years and I give them a ton of credit for how far you’ve come.

I won’t lie…your life isn’t the easiest ever. Some things are really hard for you and always will be. I will say this though, no matter how hard life can be…it’s always easier with good friends at your side. It took me a very long time to learn that, you seem to have mastered it already. A loud noisy gym is scary, unless you have someone to hold your hand. New places are tough, unless you have an arm around your shoulder and another around your waist…and they’re both making you giggle by whispering “feeeeeeesssh!” in your ears or tickling your neck. Don’t ever take them for granted, they are the magical Caleb-whisperers and there is no limit to where you can go with friends like that at your side.

I love you!

Money.com

Inchstones.

Inchstones.

Thanks to the support and wisdom of the fragile X family I’ve gained, I gathered up my inner Piglet in my arms and, in that quiet voice moms everywhere have perfected, told him to just suck it the f*ck up right now or so help me1, and took Caleb to the circus. I was prepared for either a rousing success with a happy little Monkey sitting between his buddies saying, “Would you look at that!” or a dismal failure with a scared, crying little boy standing outside the big top in the rain begging to go home while his friends and dad enjoyed the show. So, naturally, I got something right in between.

We had a very happy Monkey who talked about his friends Peter and Jesu-rique (Jesus Enrique in Caleb-speak.) and the circus all morning long. He gave up his booster seat for the day so the boys could all smoosh into the middle seat together. He laughed when his friends said “feeeesh!” to him. When they asked him to say their names he would do so and their faces lit up. He even answered some of their questions appropriately which brought a huge grin and an excited, “He talked to me!” out of them each time. You don’t have to be with these boys very long to see the love and friendship there, it’s a beautiful thing to see.

circusMonkey’s anxiety started to ramp up as soon as we got out of the truck but he followed his friends into a crowded elevator and through the revolving doors onto the busy street. Then he stopped. “Bathroom? Batttthhhhroom?” This is a favorite escape tactic so we exchanged glances and decided we should err on the side of caution with this and found a restroom. He and all the boys ended up having to go. I was really impressed that even with the excitement the other boys were super patient and even thought ahead so we didn’t end up having to make 3 separate trips to bathroom.After we crossed the street to where the big top was set up, we were greeted with quite a long line for bag searches. Monkey was blocking his ears but he stuck with it. In fact, we managed to get through the line, through the lobby area and to our seats with very little issue. We sat with Eric and I bookending the boys with Caleb in the very middle between his friends. Eric bought popcorn and water for everyone which killed the time we had to wait. When the lights dropped and the ring master’s voice called out for the first time I found myself staring at Caleb. I could see the anxiety on his face. He looked at me and stood up, I signed “sit” to him and he sat back down.

It was a rough beginning, Eric and I were exchanging a lot of looks. We were not at all sure he would make it. We tried a few things without much luck and then finally offered him his iPad and his noise cancelling headphones. Caleb settled back in his seat, crossed his legs, pulled up PBS Kids and started watching Curious George. I went back to watching the show, casting covert glances in his direction. He would watch the iPad, then look up and watch the show, then go back to the iPad. It was working!

It worked beautifully right up until the last act, of the last performer, before intermission…the contortionist. He was really enjoying her performance, it was much quieter and calmer than the others had been. He kept pumping his fist in the air and saying, “Yesssss! Yessss!” whenever the audience clapped. Then she stood on her hands, arched her back, took up a bow and arrow with her toes and she shot a balloon on the other side of the ring. *POP*

And *POP* went Caleb’s calm. He jumped to his feet and began begging to go to the bathroom again. I looked at my phone and realized we had been there for 1 hour and 15 minutes! OMG! The other boys jumped at a chance to go so they all took an excursion while I guarded the last bits of popcorn. When they came back, Caleb still wasn’t happy. He said he was hungry so Eric took him out to the lobby to buy the boys each hotdogs. He had to bring him back in though because he wouldn’t listen to Eric and wouldn’t stand in line. It was a very long wait for him to get back, finally, with those hot dogs.

I’d hoped eating would distract and calm him and it worked, a little. When the show finally started back up we gave him the iPad again and crossed our fingers. He just had to make it 40 more minutes…

By the time the last of the cheers died down and the lights came up we were all ready to go. We did stop in the lobby, one of the boys wanted to spend some money he’d brought and I had it fixed in my head that they needed to leave with those plastic, light up, swords. I’m not sure why this was such a big deal to me but it was…so we made it happen.

We stepped out into the rainy evening and finally took a deep breath. We had made it. HE had made it.

circus-2It wasn’t the most inspiring of victories, my head hurt from the noise and stress of the day, Eric and I were a little snippy with each other while making dinner plans, but we all did it. Together. There is no way Caleb could have made it without those boys, they’re the heroes of this story. When he fussed, they made him laugh. When he struggled to sit in his seat, they touched his legs and stomach…giving him comfort and soothing him. It was amazing. And on the entire trip home as my patience with his anxious scripting grew thin, the boys chatted happily together and tried repeatedly to draw him in even when he was completely not responsive. They never gave up…it never even crossed their minds to give up.

Rough as it was, undocumented as it was (there was no way I could take many pictures while he struggled so badly!)…it was another inchstone met. Caleb’s first typical circus? CHECK!

  1. Look, I’ve never claimed to have a patient nature but I save the toughest love for myself! []
Love is…

Love is…

 

Love is flowers (the same flowers I carried on my wedding day), my son writing Mom (even if he started with Mooo), my husband’s delusions (I suppose I could be the best wife ever but that really makes me wonder about the rest of you) and cinnamon buns (from Pillsbury, if you know my husband you know how much that hurt him to do.)

But those are just signs of love for that one day.

 

 

 

 

 

 

 

 

 

 

 

 

 

Love is also the every day stuff…the smile on my son’s face when he sees me, letting me decompress after work so I can act like a decent human, it’s sitting in a waiting room while I visit my dr. because I’m too anxious to go alone and it even comes in pills.

I’m a very fortunate mom and wife. Thank you sweetheart for making me feel loved every single day!