Month: June 2013

Simply amazed…

Simply amazed…

Melissa

Eric relayed the following story to me when they picked me up after work.

Caleb’s teacher (who is awesomeness, dipped in awesomesauce…she came to hang out with Caleb Monday after school so we could go to volunteer training for the fragile X clinic!) has been working with him on not blurting out questions…also on his quiet voice (*snort* I’m not sure he has a quiet voice!) They’ve been working on him raising his hand and waiting to be called on before he answers or asks a question. Today, this happened at snack:

Caleb raises his hand, “A question, I have a question.”

After being called on, “I want some chips, please?”

After being told no on the chips, “Doritos? ‘Ritos?”

After being told no on the Doritos, “Frrruit Snacks?”

After being told no on the fruit snacks too he was offered a choice, which he answered in a disappointed tone, ‘Goldfish.”

So many things about this are amazing, the impulse control, the quiet voice, the polite requests and acceptance of the refusals…but NONE of those are as amazing to me as this.

Someone said no to C.A.L.E.B. CALEB!

I bow down to his teacher. That kid would have ended up with chips, ‘ritos, fruit snacks and, most likely, “10 dollahs?” to boot if he’d been asking me…

Want to see something else amazing?

A thank you note to us and an I’ll miss you note to Caleb from his teacher. And this is his gen ed teacher, not the one who came to hang out with him for a few extra hours in her spare time…yeah, he’s a pretty special kid.

Balancing hope.

Balancing hope.

Melissa

Have you ever read, “Flowers for Algernon?” I remember reading it in middle school.

“The story is told through a series of journal entries written by the story’s protagonist, Charlie Gordon, a man with an IQ of 68 who works a menial job as a janitor in a factory. He is selected to undergo an experimental surgical technique to increase his intelligence. The technique had already been successfully tested on Algernon, a laboratory mouse. The surgery on Charlie is also a success and his IQ triples.

As Charlie’s intelligence peaks, Algernon suddenly declines — losing his increased intelligence and mental age, and dying shortly afterward, to be buried in a cheese box in Charlie’s backyard. Charlie discovers that his intelligence increase is also only temporary. He starts to experiment to find out the cause of the flaw in the experiment, which he calls the “Algernon-Gordon Effect”. Just when he finishes his experiments, his intelligence begins to degenerate, to such an extent that he becomes equally as unintelligent as he was before the experiment. Charlie is aware of, and pained by, what is happening to him as he loses his knowledge and his ability to read and write. He tries to get his old job as a janitor back, and tries to revert to normal but he cannot stand the pity from his co-workers, landlady, and Ms. Kinnian. Charlie states he plans to “go away” from New York and move to a new place. His last wish is that someone put flowers on Algernon’s grave.”

From Wikipedia

Can you guess what this does to me? Does it make you want to click on that little “X” up there in the top right? Would you rather pretend this isn’t happening?  Me too. Unfortunately, I can’t pretend.

There are those who are tired of reading about the end of this study. There are those who say I’m scaring people from participating in research. There are those who say that sharing anything but the most hopeful of stories, damages our community.

Here is the issue though…

Participating in research is already scary. As a parent, making the decision to experiment on my child for the greater good…it went against every mothering instinct in my body. And, yet, I did it. I made the choice for him, I gave over his body to science…for progress. To push fragile X research forward.

Dr. Berry-Kravis, who I love, recently said,

“Short of a science miracle (which I, Seaside and families had hoped for), we won’t get everything right the first time. We will stumble and we will fall and we have to just get right back up and be wiser from our mistakes and do it over and over again until it’s right. And every time it’s not just us that falls – it’s all of the families who are our partners. So it’s going to hurt and we feel bad that families have to go through this pain. But that is the nature of making progress in science and you must remember that without you we will not make it to the goal of developing new treatments. (We can’t ever prove it works without you) So we have to ask you to go through this process with us. It’s tiring – maybe even horrifying – to think of the persistence and resilience we will all need as partners to get through all the falls and scrapes as we eventually get over all the hurdles to the finish line!

 

from the NFXF
Call me naive, but I never truly believed that it would end like this. I thought we had to get through the double-blind portion and a brief titrating period and then we would be set. I am, clearly, a supporter of research…I asked last October, “Do you really want a cure?“

“No study participants=No data=No cure!

All the lab results or money in the world won’t get us past this.”

It was true then and it is true now. If we stop participating there will never be a cure. The community cannot stop participating. But, we should have been openly talking about this part of participating in a trial. We should be going into these trials, not with just hope filled eyes but, with practicality and realistic expectations. If I had known that this might end this way, would I have still done it?

I don’t know. I can’t know because I based my decision on things that I only thought were true.

Do I regret it? That is an entirely different question and to that I say, not for one second. I know what is inside him now. What is breaking my heart is that we are going to lose it. We are going to lose it not because it isn’t safe – if it weren’t safe there would be no question I would be banging down the clinic door telling them to get him off it right now. We aren’t losing it because it doesn’t work – if it didn’t work I would have already moved on.  It is safe and it works and we are still losing it when we were told we wouldn’t lose it. How was I to know it was a possibility if we (FX community “we”) don’t ever talk about it?

So here we have a whole bunch of families, heartbroken over this sudden loss. If we had gone into this, believing that it would end…we would not be here. I would be sharing the Flowers for Algernon summary as an argument for more research. I would be arguing for more fragile X awareness. I would be telling you that although it breaks my heart to go through this, to put him through it, that it just means we need to keep moving forward.

Instead, while all of those things are true, I’m left fighting for my child. MY CHILD and not my community. I’m left standing here saying “It’s not fair! You told me we could keep it! GIVE IT BACK!“ I’m left feeling helpless, heartbroken and abandoned by people I thought were helping us. When I hear that I just need to keep moving, keep hoping, keep participating right now…I have only one response…one finger.

Is that fair to those who are saying…but they were allowed to end the trial or not every trial is successful? Probably not.

But was it fair to paint nothing but a rosy picture and make promises that weren’t entirely true? Definitely not. Going into this with such high hopes and unrealistic expectations has broken my trust.

So please…please…please…participate in research. What I want you to learn from my heartbreak is this…

We have long suspected that there is more inside our children than we were seeing…and IT IS TRUE. There is so much more in there just waiting to break out…but it won’t happen unless we make the sacrifices. We can’t just wait, we have to take risks.

But I also want you to learn this…

It is a risk. It is one worth taking but it is a risk. Go in with your eyes open and your hopes realistic. There is so much room for hope based on what we and other families saw.

I need to rebuild that hope within myself right now. That doesn’t mean “stop” it just means…be careful with your hopes and dreams because they’re precious and the loss has been almost unbearable.

Every day…

Every day…

Melissa

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.

Fragile X and Autism Families for STX209

Fragile X and Autism Families for STX209

Melissa

Hey everyone, if you’ve missed it, the fragile X parents have been blowing up social and traditional media talking about the sudden termination of the STX209 extension trial we are participating in. We have our date to visit our clinic, turn over our supply of medication and get a titration package…it’s so nice to be able to watch the ax descend in slow motion right after they pull the rug out from under your feet. Yep, that was sarcasm…it’s back…but leaning a bit towards the mean side due to that simmering pile of rage sitting in my stomach.

I’ve had a few people ask me why we are fighting for a drug that failed the latest trial. *sigh* It sounds perfectly reasonable to stop spending money on a drug that failed doesn’t it? Even I would agree that when you have limited resources, you shouldn’t keep throwing them at a solution that does not work.

But here’s the thing…the drug didn’t fail. It didn’t. And, no, I’m not calling the headline writers liars. They have limited space to work with and “Autism drug fails” fits a lot better than, say…

“Autism drug fails to meet the primary endpoint chosen for this study but met several secondary endpoints which the FDA completely disregards because they are an archaic, lumbering beast of an organization that doesn’t know how to handle drugs for such complex, spectrum disorders.”

So…they aren’t liars…but the headlines don’t tell the whole story. Just as the “primary endpoint” doesn’t tell the whole story of a drug’s effectiveness.

The drug failed to meet the primary endpoint of the study. The primary endpoint which must be chosen by the company, per the current FDA rules, becomes the BE ALL and END ALL for a drug. So, if you pick social anxiety and not enough participants who received the drug have a statistically relevant improvement in social anxiety…you fail. EVEN IF, you saw statistically relevant improvements in the secondary endpoints. You have to pick a NEW endpoint and spend millions and millions of dollars more to see if you can meet that new primary endpoint. Wash, rinse, repeat.

The drug “failed” but the process was heavily stacked against it. The process should be protecting the sick and vulnerable, not standing between them and the drugs they thrive on.

So, that’s why we are fighting so hard for a drug that “failed.”

On the fragile X side…it has already cleared this efficacy phase (Phase II) and had moved on to the dosage efficacy phase (Phase III) which is all about figuring out how much to give each patient to treat their symptoms. So on the fragile X side…where I am sitting…this is even more of an awful development because we are *THIS* close to getting through. And it might still, if they got lucky and get the data they need they’ll go to the FDA and try to finish the process. In the meantime, kids like mine, who are proof that this does work, are left hanging…fingers crossed that they did get lucky and fingers crossed that the rest of the process will be done at some point and fingers crossed we don’t experience a total regression in his developmental and educational process.

That’s some tough crap to ask a mom to tolerate…our future relying on *fingers crossed* when there is something, right now, that works.

Which is why a few parents have decided that we want the world to stop and rewind. No? Fine, we want Roche Pharmaceuticals to rewind. We want them to revisit their business decision and PUT THE KIDS FIRST…put them before the dollars…where they belong.

And thus, Fragile X and Autism Families for STX209 was born. Please read our stories and share them…please help us get the word out so we can convince Roche that pulling their support was not the right decision…at least not for the many, many families who’s lives are being turned upside down and inside out by that decision.

Please click on the image and like the page on Facebook. Then read stories of kids who need this medication!

There are two petitions circulating as well to get out the story…please sign the petitions if you haven’t already!

Change.org (click on the image to go to the petition):

The White House (click on the image to go to the petition):

Thank you for all of the love and support, it’s what is keeping us focused and moving!