Today is World Autism Awareness Day!

If you are seeing a lot of people wearing blue or turning blue on social media (and they are not discussing Obamacare) it is most likely due to the fact that today is World Autism Awareness Day!

This morning I was walking up the stairs at Caleb’s school behind a father and son when the son suddenly dropped to the floor like a limp noodle and blocked the stairs. The father calmly pulled his son to his feet and was greeted with fists. There were two ways to go here…I could have turned to Eric and rolled my eyes or huffed about having to wait a microsecond while this dad got his son safely out of the way OR I could smile sympathetically, let him handle it and then go on my way. I chose option 2 and within a few seconds I was up the stairs…no harm, no foul.

Yesterday, the ASD program at Caleb’s school attended the Circus of the Senses. They had a great time and Caleb even let me ask 2 questions about it before he told me, “I’m all done.” That’s huge, he hates answering questions!

Anyway…the kids all took the Red Line to get to the circus, this was easily the most highly anticipated part of the trip for Caleb. Sometimes it can take a bit of time to get yourself through the gates at the T stations, often they are crowded and when you have a bunch of kids with no impulse control…well…it can get a little extra chaotic. There was a young man in his mid-20’s who got caught behind the kids and chaperones and he found his way blocked. There were two ways to go here…he could have begun muttering under his breath some not so very nice things and tried to push his way around the group or he could have waited the extra couple of moments and then gone on his way. This young man chose option 1 and, when he tried to pass the kids, one of them moved unexpectedly and he TRIPPED over the child and ended up face first on the floor of the T Station.

So, if you ever find yourself in a situation where you can’t tell if you are looking at a child who is out of control because they have autism or if you are looking at a child who is out of control because they are brats…the safe bet is to just assume autism. Just take a breath, pull your head out of your ass and thank your lucky stars that, while you might be minorly inconvenienced in that moment, the child is under a massive amount of stress while he or she fights their body to do something you do every single day without even thinking about it.

So there is my autism tip of the day…

Just zip it and move along.

Happy World Autism Awareness Day!

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

Team Fragile X fundraiser – A Contest!

Team Fragile X fundraiser – A Contest!

If you missed my earlier post (Team Fragile X – A Challenge), or that humungous fundraising link to the left, or that pole dancing photo on Facebook, there is a fundraiser going on to benefit the Annual Fund for the National Fragile X Foundation! Just to clear up any possible confusion…I started the fundraiser, because someone had to, but this is a TEAM event. We need as many family members and friends as possible to join the team and help raise money. Any money you raise on your page goes to the team total but YOU get credit for your hard work on your own page. OK? Cool, eh?

SO. We currently have 10 members on the team which is very cool and I LOVE them for joining. I just think we can do better. The more people who join, who spread the word about what this means to their family, the better because, let’s be honest…your Great Aunt Sue doesn’t want to donate money to me…she wants to donate money to you and your adorable kid(s)! Your friends and family are MUCH more likely to donate if they know the person (YOU) asking. That’s why it’s important to join the team. I don’t think I need to tell you why it’s important to donate money, you already know!

Now, about that contest…it’s pretty simple…whichever team member1 who raises the most money between now and 12:00 PM EST on December 7th gets what’s in this box:

Pretty cool, eh? What’s inside is really, really, super cool…

You can’t buy one of these stainless steel, NFXF travel mugs anywhere at the moment! Some day you will but until then the ONLY way to get this…is to win it. So…go join the team and raise some dough!

Instructions on how to join Team Fragile X can be found here: Team Fragile X

  1. Excluding me! []

Do you really want a cure?

This isn’t one of those philosophical posts about how sweet and wonderful Monkey is just the way he is…and he is sweet and wonderful! If you don’t know that by now…uh, welcome to BasicallyFX, you must be new!

Anyway, this isn’t that. This is me seriously asking you, each and every one of you, DO YOU REALLY WANT A CURE? If the answer is no, that’s A-OK, I still like you! Lots! But you don’t have to finish reading this one…try this one instead, “The future is?”  It still makes me cry to remember that moment!

For the rest of you, the ones who stay up night after night with red eyes and a broken heart…the ones who read that question, “DO YOU REALLY WANT A CURE?” and thought, “Is this lady on fucking crack1? WHO DOESN’T??”…this post is for you. I’m going to tell you a secret. It shouldn’t be a secret but it seems to be…there will be no cure…EVER…if you don’t step up. Period. There is no researcher or drug company in this world who can find a cure for fragile X without YOU.

Cures don’t just show up out of thin air…cures come from years and years and years of hard work, of study, of experimenting. That sort of thing…is expensive as hell. Seriously, it takes millions and millions of dollars to keep a lab running to find a drug worth investigating in a drug study. Where do those millions and millions of dollars come from? As amazing and wonderful and out of this world as FRAXA and the National Fragile X Foundation are…it’s not coming from them…yes, some is…but in the grand scheme of things, it’s pennies. Those millions and millions of dollars come from…the NIH, the CDC and, surprisingly, the DoD…what do those things have in common? Right, they’re all government agencies. That big, evil force that is stealing all our monies…yeah, that one. All that money coming out of your check that makes you gnash your teeth? That is our funding stream for the cure we so desperately want.

I’m not going to get into politics, mainly because, I like you all too much. I can guarantee we don’t agree on everything, even some things that I feel really, really passionate about. Things that seem so obvious to me that it makes me question the intelligence of anyone who doesn’t see that I’m right. And I don’t want that to come between us because, as I JUST finished telling Monkey’s classmates, we are all WAY MORE ALIKE than we are different. OK? In the ways that matter, we’re alike…we’re human, we hurt, we love, we want the best for our kids…and politics just muddies those waters. SO, NO POLITICS. But the fact remains…our cure is going to come from our tax money.

Does tax money get wasted? Yes! The how and why fall into politics and we are not going there! So! YES, money gets wasted but the fact remains that the vast majority of the research we want and need…it comes from that pot. We don’t have to be helpless though, and I do know a lot of people do feel that way. What difference does one small voice make, right? But we do not have to be one small voice, we are a community of people who…on at least one issue…can speak with one big voice and that gets peoples’ attention.

Every March, the National Fragile X Foundation hosts Advocacy Day. It’s the first Tuesday and Wednesday in March. If you want a cure, you need to add your voice to those efforts. You need to write letters, you need to make phone calls but MORE importantly…you need to SHOW UP. Letters may get scanned and set aside. Think for a minute about your junk mail pile and then think about what your Representative or Senators’ pile looks like. You don’t want to just be one more letter in that pile. Calling is good! It’s hard to ignore a voice on the other end of a line…but you’re not going to get to your Representative or Senators that way either. You’ll most likely speak to a volunteer or intern, an eager, intelligent person to be sure, but you will just get added to the list of things they tell their boss. You don’t want to be just one of a dozen or more items on that list for the weekly meeting. If you SHOW UP in their office, you still will probably talk to a staff member. But that list of names of constituents who showed up that week to discuss an issue or make a request? That list is pretty short, that is the list you want to be on. And in a perfect world, you would do all three because there is no way you get ignored then!

So, Advocacy…it’s very important. I understand that the financial and logistical aspects can make going to Washington an impossibility but there are still phone calls to make and letters to write…and that’s way better than doing nothing! You really don’t have an excuse to not do those two things. This is how we get our Representative and Senators to sign on to fragile X research funding and this is how lab research turns to real world research. No, they don’t always listen, I know. One of our Senators has given us the same brush off letter two years running. He also happens to be up for reelection. I know I’m getting dangerously close to politics here but I think you can imagine how those two generic, brush off letters, containing “as you know” language that was written by a researcher that ALL the Senators and Representatives use2, made us feel. It influences how we perceive him and it influences how we vote. SO, no he didn’t listen, I used my voice and failed BUT I have other options to let him know what I thought of that. You all have the same options.

OY! Now we are finally getting to where I thought I was starting, I really do have an amazing talent for tangents *sigh*

Trials.

When I say trials I’m sure most think immediately of drug trials. The fact is, though, that not all research trials involve drugs of any sort. There is one going on called “Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay” basically they do a blood test to see what your fragile X status is and then they collect saliva to prove that their saliva test kit works. No drugs. The the majority, however, are drug trials. There is a lot that has to happen before they get to this stage where they can do human research and prove that it works as they think it will. But when they get to this point, the research cannot move even a little bit forward, to what everyone hopes will be a cure ultimately, if they don’t have volunteers to participate in the study.

No study participants=No data=No cure!

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

A few years ago, we met with some people at Seaside Therapeutics because they’re right here in our backyard and they wanted to meet families. When we were talking about what they were working on and what their hopes were for getting this really promising drug out to the people who would benefit from it, OUR KIDS, they thought 2012 would be the year. They planned to have done the research and jumped through all the hoops and finally, finally, get it to the point where you could ask your doctor to prescribe it. Where you could stop by the local pharmacy and pick up a pill (or capsule, or liquid) that helped your kid be the best they can be. Does that not sound amazing??

I left that meeting with a soaring heart.

2012!!!!!!!

Well, guess what? It’s 2012 and we still don’t have a pill, capsule or liquid to help our kids. We are still up night after night with red eyes and broken hearts, watching desperately as time slips though our fingers. It makes me furious sometimes to think about all the wasted time. You know what we’re looking at now?

2015!!!!!!!

ANOTHER three fucking years. That isn’t OK with me and it shouldn’t be OK with you either and you know what? It makes me really, really, really angry with the people holding this up. Not the FDA, not Seaside…it’s US. You and me and every other parent of a child with fragile X out there who isn’t paying attention, who doesn’t know about the studies or who simply isn’t willing to participate.

See how I include myself in there? I’m as at fault as anyone out there. We still haven’t started that study…we have a visit soon…but we’ve dragged our feet and contributed directly to three more lost years. Go team.

No one else can do this part for us, folks. If we aren’t willing to step up and face some potential hardships…travel, doctors visits, possible side effects…it all ends here. So all that money I’ve been going to Washington and begging for? Wasted. USELESS. It’s embarrassing, really. But I’m not owning this all on my own. If you’ve gone and been turned away from a study, you get an A for effort…did you keep looking at other studies? Have you been turned down for them ALL? Do you even know what else is out there? No one can spoon feed this to you, you have to do the work, you have to be willing to sacrifice in the short term for the long term benefit.

Phew! I wish that had made me feel better, I really do, but guess what? These are just words on a page…angry, helpless, useless words on a page. It doesn’t help Monkey. It doesn’t help your kids either. I can cry and yell and swear ALL I WANT and I can’t fix this. I can’t make this happen for Monkey on my own. I’m depending on your, counting on you, to help me help him….help me help your child! I’ll beg if that is what it takes for you to click on this link and make some phone calls:

ClinicalTrials.gov

Then, just as importantly, keep checking that link. Sign up for the RSS so new postings show up in your email. Put a calendar reminder to check once a month. I don’t care how you do it but don’t just think you’ll do it because you won’t. You will forget3! We’re all busy and have a lot on our minds…you need to do something to keep this at the front of your mind. OK? Please? Pretty please? I’ll never swear again4 or I’ll swear at old ladies5…whatever makes you click on that LINK and MAKE THE CALLS.

I know this isn’t easy. I have agonized over this decision to put Monkey in a trial. A small fraction has made it here but most of it has been eating at my brain, giving me headaches, keeping me up at night, giving me nightmares. I know as well as anyone does that this is a huge step. But guess what? If you aren’t willing to take it? Then I can’t get there either. All my agonizing and stress and eventual decision to participate. All my motivation. All my determination. All my hope. Will leave me right where I am now. Angry and frustrated and desperately watching more time slip away.

I can’t speak for everyone but my kid? He deserves WAY BETTER than he’s gotten so far. I love, love, love that people love, love, love him and his hair and his sense of humor and his sweet smile…but that doesn’t do a damn bit of good, people, if you won’t step up here. We are stealing the futures of our own children…of each others children…how can we be OK with that? How can we sleep at night, knowing that there was more we could do and we chose not to do anything? It turns out, I can’t.

How are you sleeping?

 

  1. The answer to that is NO! I am not! Though many will not believe it and I cannot really blame them! []
  2. Guess what guys, we talk, we share those letters, we KNOW when you have not paid attention! []
  3. It is a carrier thing! []
  4. Lie, sorry! []
  5. Since some of you find this hysterical! []

What I want you to know about Fragile X Syndrome.

Tomorrow, July 22nd, is Fragile X Awareness Day. I thought I’d take a minute to share what I wish the general public knew about Fragile X Syndrome.

  1. It exists.
  2. It may be in your family.
  3. You won’t know unless you’re tested.
  4. If you are planning to have a baby and you are offered genetic testing, you should ask about it. It isn’t a test a GYN will typically order.

I have a couple more things to add for those of you related to me on my maternal side (Coles, Gerrishes)

  1. It is in your family.
  2. There are 2 boys with the full mutation and at least 6 carriers spread through 5 generations.
  3. If your grandfather or grandmother was diagnosed with Parkinson’s (and I know some of them were) there’s a chance that it is (or was) Fragile X Associated Tremor/Ataxia Syndrome or FXTAS and you should be tested.
  4. You should be tested even if your kids don’t show any symptoms.
  5. You don’t want to wait until it shows up in your grandkids or great grandkids, it will rip your heart out.
  6. I can help you walk through the family tree if you are still not sure.
  7. I love you all 🙂

 

Visit the National Fragile X Foundation for more information.

*Cough*hack*Cough*

Monkey’s fever has broken but that cough, ugh. Because of the medications he’s on he cannot take cough suppressants either. I just went into his room to set up the Vicks Waterless Vaporizer1 and his little face just lit up. I hope it lives up to his high expectations and he gets some rest tonight. Poor kid looks exhausted.

Speaking of coughing…nope, I got nothing else to say on the topic since the fact that it sucks obviously goes without saying, right?

<Insert smooth segue here2>

It appears that we are planning a fund-raising walk to raise money for the NFXF and for our LINKS group so we can sponsor some fun family outings to give our families the much needed time around others who get it. I’m petrified that we’ll do all this planning and then no one will come! What can I do to get you to come? I’ll beg and I’m not above shedding some tears if that’s what it will take…just watch me sob as the actual day approaches3.

So, seriously, what would it take to get you to come out and join a walk besides getting to meet the incredibly hip and fun organizer? 😉

  1. No, I am not getting any compensation for that little bit of free advertising. []
  2. Fail. []
  3. Probably in August but my event planner SAMANTHA, has not gotten back to me on the location availability. []