Fragile X and fragile hope.

Fragile X and fragile hope.

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.

Time for a new story?

Time for a new story?

Earlier this week, John Robison resigned his roles on the Science and Treatment Boards of Autism Speaks. You can read the full resignation letter here.

John has autism. One particular paragraph in the letter grabbed me, I’ve read it over and over. In stray moments since Wednesday I’ve stopped to think about it, and it’s increasingly hurting my heart.

“I have tried to help Autism Speaks staffers understand how destructive its messages have been to the psyches of autistic people. We do not like hearing that we are defective or diseased. We do not like hearing that we are part of an epidemic. We are not problems for our parents or society, or genes to be eliminated. We are people.”


I am wondering, how many times has Caleb heard Eric or I talking about fragile X and internalized it? We know he is always listening, so how many times has he heard us describe the characteristics and felt…defined…by it? He understands much more than he can express, so how can we ever truly know?

You can look at me and see how much I love him and I know that he knows that I love him…but that doesn’t mean I haven’t hurt him. I am wondering, does he think there is something “wrong” with him? Does he think he’s anything less than perfect in our eyes? Does he think that he is fragile X? Does he know the difference between “being” fragile X and having fragile X?

I know the internal dialogue that I want him to have. That he is unique. That some things are harder for him, but everyone has something that is harder for them. That he is funny and fun and people like him, a lot. That lots of people love him. That he can do amazing things.

But is that the story I’ve been telling him? I’m afraid it might not be. I’m not sure yet how to do it but I need him to help me write a new story for us…one that will give him the inner voice he deserves. One that conveys all that he is because he is so very much more than just a boy with fragile x…

And so it begins…

And so it begins…

Over the weekend, Eric and I were in Connecticut for the 6th Annual Fragile X Conference sponsored by The Fragile X Society of Connecticut. While we were selling t-shirts, hugging new friends and old and learning a ton…this happened.

And this morning we watched bits of Charlie Brown, The Grinch and Frosty the Snowman.

Someone is ready for Christmas! Our Toys R Us catalog hasn’t arrived yet but I suspect it will be greeted with joy. Me…I’m plotting elf hijinks. Yay!

There was no Halloween miracle.

There was no Halloween miracle.

Every November 1st I say that I won’t do this again and every October my brain short circuits and my need to give Caleb all the same experiences as other kids kicks in. I start plotting…just a *little* something costume-ish without him being aware that it’s a costume…surely that will work! And every single year I fail. Every single year my *little something* turns into…more…

It came out awesome…but the most awesome part was…

  1. He said “trick or treat” to me and held out his bucket for candy.
  2. He put the costume ON (no photos, you’ll have to trust me.)
  3. He left the house in his costume (we made it to the end of our driveway.)
  4. Two neighbors came to him to offer him candy which he was happy to accept.

I’m reminding myself this morning that in this fragile X life, we celebrate inchstones…and last night was definitely that.

This morning, in true Caleb fashion, when we asked him about last night he was way more excited to talk about it after the fact than he had been to participate. Today he will be telling anyone who asks that he was “a MINION!” And he said “trick or treats” and he got candy.

He has clearly stored this as another happy memory and, ultimately, that’s worth way more to me than any amount of money.