Bonnie over at The Fragile X Files shared an article from the Seattle Times, The mining of rare diseases, and her thoughts about it. I have so many thoughts right now that I am having trouble teasing them apart. I guess I can start here, with this from her blog post:

But we, the parents of children with rare diseases, have no other option but to trust the drug companies, the doctors working for them, and the trial results we are presented with.  We are constantly shown how far medical research has come in the past couple of decades, how much more we know about the body and how it works, and how it gives us real hope for our kids’ futures.  We grab that dangling vine of hope and scramble to ascend it, to save our kids.

I’m starting to feel a little duped.  They don’t really know that much about these drugs before they start advertising how miraculous they are going to be.   It sounds like they are just telling us what we need to hear, so that we’ll get excited and desperate and raise funds and pay them to do the research.

And that gets us parents working on fundraising, doesn’t it?  The drug company says the only thing standing between our children and their good health is money.  If only we can make it.

So we work our butts off holding fundraiser after fundraiser.  So they can perform clinical tests and work toward FDA approval, as fast as possible, because our children are running out of time.

Read the rest of her blog here: The Orphan Drug Act and Exploitation by Drug Companies

Are we willing to give up the many years of safety testing to get drugs to the market cheaper and faster? SURE! Until one of our kids is injured or dies because of an unsafe medication and then how dare the drug company rush this to market without proper safety testing?

Are we willing change how the FDA measures effectiveness to get drugs to the market cheaper and faster? SURE! Until we find out the drug was no better than a placebo and we just wasted months or years on an ineffective treatment and then how dare the drug company rush this to market without proof it works?

Are we willing to change how prices of these drugs are set? SURE! Until companies, who are by law required to act in the best interests of their SHAREHOLDERS, decide to pass on promising treatments because it won’t be profitable enough and then how dare the drug company only be in it for the money?

It’s this last scenario that sank Seaside. Roche made a business decision to not sink additional money into a promising drug because it was never, not ever, going to be profitable. They chose instead to pursue their other compounds with similar or better results that would allow them to make money. There was never going to be a 7 year period of exclusivity on STX209 because it was derived from a compound that already exists in generic form…getting it approved for fragile X and/or autism would not have changed that. What would have SAVED this drug WOULD have been big dollar signs in the eyes of the company. Those other “novel” compounds that Roche is pursuing WILL have that 7 year period of exclusivity attached, they do have the possibility of big dollars, and those compounds are still being funded.

So we do have other options as parents. As I said in my post Balancing Hope, you can choose to “go in with your eyes open and your hopes realistic.” I know miracles are sexier but as we have experienced, the likelihood of getting your miracle is too low and the cost of expecting one is too high. We, as parents, should want safe, effective treatments for our kids. You only get safe, effective treatments with years and years of research. Years and years of research costs lots of money. You need to make lots and lots of money to spend lots of money.

When we lose sight of this reality and begin expecting cheap and fast miracles, we are only duping ourselves, IMO.

Since losing the STX209 we’ve lost a lot. We’ve lost the ability to spontaneously change our plans for the day, we’ve lost the ability to take Caleb to large gatherings, we’ve lost the ability to take Caleb confidently out into public period. His anxiety is…I have no words for it.

What kills me is that he appears, to the general public, bratty and he’s not. He’s a really, really good kid. He’s just scared of the world right now. I hate it. I hate the looks when he yells because we have to stand in the check out line, I hate the looks when he cannot sit quietly at a restaurant while we wait for our food, I hate the looks when he cannot try on a fucking backpack for school without tears. I hate all of it. The fear I see in him tears at my heart every single day.

But I don’t want to talk about all that, because it makes me cry…it makes my head and my heart hurt. What I want to talk about is what we haven’t lost…we haven’t lost Caleb. He hasn’t lost his words. He is constrained by the anxiety, we’ll deal with that, but he’s not locked in the fragile X box. He has more words now than he did a month ago, a week ago, and his language is more appropriate to the situation.

Last week we went to Target, we do a lot of that these days because it’s Caleb’s favorite store and, hey, it’s TARGET…Mommy likes it too. When we reached the check out…

Caleb: Hi!

Cashier: Hi! How are you?

Caleb: Good, yourself?

Cashier: I’m good, thank you.

Then he helped Eric finish paying for the random very important crap we’d bought. He had a conversation with a stranger! Wha?

Or this weekend when we went in the (surprise) Target dressing room trying desperately to find uniform shorts for the boy who has apparently SKIPPED size 10 pants and is borderline outgrowing size 12 (at least in the waist, his legs need to catch up!) Oy.

Caleb: This room, this one? (pointing at the very large handicapped dressing room)

Me: Sure.

Caleb: (Looking around) It’s a nice little room.

Me: (laughing) You like this room?

Caleb: It’s a nice totel (hotel) room!

(After trying on a pair of pants and 2 pairs of shorts that didn’t fit)

Caleb (to the woman collecting the numbers as I handed over all the clothes): Just can’t win.

Me: It sure feels like it, doesn’t it bud?

So he’s there, he’s with us and he’s keeping the words. That was our biggest fear and it was not realized. Now if we could just get the kid to leave the house willingly again, that would be super.

**I hope very much that this is the last of these posts. I’m tired of feeling bitter, angry and hopeless. I’m tired of feeling so very sad for him and for us. There is more to come, I know this. I want to be looking for it and not at what we’ve had to leave behind.**

Eric isn’t going to be thrilled with this one.

Since Caleb was born we have been a united team. We don’t always see eye to eye but we’ve never strongly disagreed about how to respond to any situations concerning Caleb. Mostly he leaves it to me to research whatever issue we need to tackle and then we move forward together. Mostly.

In yet another example of the stress the end of the STX209 trial has brought to our lives, it has left Eric and I frequently staring at each other across a table or a room…united in loving each other, united in loving C, united in wanting the very best for him…but unable to agree on what that should look like.

If you know me (or have read anything here, really) you might have picked up on my tendency to lose my ever-loving shit when faced with surprises or change. I respond very quickly; most times with anger and then, once my brain kicks in and my adrenaline settles down, I cope. I figure it out. I move on. It’s over.

So my reaction to the news that the trial was ending was predictable…totally, utterly predictable. Right up until I jumped off the rails and refused to get back on. Much to Eric’s surprise, I refused to even discuss getting back on…the best he got when he tried was, “I don’t know.”

His attempts to calm me down, to try to swing my focus back to moving forward were met with two words and one finger. He tried a lot of different approaches. He tried to remind me that it wasn’t just about us, that there was a larger community out there. He tried reminding me that his job created a responsibility to act rationally. He tried reminding me that this would end and I didn’t want to make rash decisions that would affect Caleb into the future.

I listened to him, I understood everything he was saying and even agreed with it in theory. And, yet, I could not do what he wanted me to do. I could not call the research clinic, make the appointment to remove him from the medication and then move on. I could not do it. I counted out the pills we had left, I read the titration schedule and then I continued to hand him his pills day in and day out.

For 2 1/2 months I watched families lives fall apart as their kids weaned. I told some people that we had not yet begun to wean but certainly not everyone. A few amazing people who I told, offered to send me their left over pills. Of course, I could not accept them but I did appreciate the gesture. Eric gave up on trying to convince me. I even let myself forget, sometimes for hours, that the end was coming. Starting the titration was giving up hope…it was accepting that we had lost…that we had fought for Caleb and hundreds of other kids and we had lost. I couldn’t do it.

Last week, after school ended for the summer (C is in an 11 month program) and after the news piece was filmed…I gave up. We are now weaning Caleb from the STX209.

This past weekend three of my beloved Birches were playing tourist in Boston and I took Caleb along with us.

This lovely shot was taken by Holly on the way INTO town. He was in my lap because he needed some deep pressure and he would NOT STOP TOUCHING the cab driver, who was driving and attempting to concentrate.

It wasn’t good. He was impulsive, anxious and completely hyper-aroused. Even though we went to places he’s been before, places he likes, he couldn’t do it. We rode in an elevator, we ate fast food and then we rode on the T…all things he adores. And it reduced him to tears. I had to jump in a cab near Boston Common and bring him home.  By the time we got home he was crying so loudly that my MIL heard him from behind a closed door with an air conditioner running next to her.

It took an hour to settle him down.

So now, I have two words and one finger for … well, the world. He’s hurting for no damn reason at all, I know how to fix it but I can’t. Isn’t that some shit?

I think we may have been the last…I kind of hope there is someone else out there holding on to the hope that STX209 gave us. I feel so broken and it makes me unbearably sad that it’s truly over.

Every day, he makes me laugh. A dozen times a day he says something to make me laugh and I think…I don’t want to forget this, I should blog this. Yet, I’m too busy soaking up his awesomeness…filling up my tank…just in case. Just in case…

We haven’t started titrating down yet. We may be the last…our appointment was on Friday but I had to cancel it. When people ask, and I tell them…I get this look of pity. Even my husband gently asked me what I thought was going to happen. Nothing. I get it. Nothing will stop this, nothing.

But…

It is asking too much. That we take him from school early, when all the fun end of the year stuff is happening. That Eric’s sister has to give up hours of her very little free time/time off to come and sit with Grampy. Grampy who is home from rehab, but who needs lots of attention. It was asking too much.

And now that I sit here, pondering making another appointment…it is still asking too much.

To ask me to go there and hand back the medication that has opened up the world to my boy, the medication that has taken that sparkle in his eye and brought it forth so it can be shared with the world, the medication that has enabled him to learn more easily…it is asking too damn much.

I feel so helpless and furious and sad…it’s all too much…I have a mother’s heart, one that is immeasurably strong in many ways but also so, so fragile. Asking me to break my own heart. It’s just too much.

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.

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.

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.