Life with Fragile X Syndrome

How is this for a wrench in the works?

Melissa

Duhdee and I came to a decision, finally, on the clinical trial. We decided that Monkey is doing so amazingly well on C.elexa (increased language, happier in general) *and* that since he’s just starting at a new school…it wasn’t fair to change his medications at this time. Soooooo…we emailed the amazing Dr. Nasir and asked him about increasing the C.elexa since he had mentioned he wanted to try some slight increases to see if Monkey had additional benefits.

Dr. Nasir called us back yesterday and said it was very interesting that we had brought up the C.elexa issue today because he had a notice on his desk from the manufacturer warning of heart risks at high doses. W.T.F.

He now wants to switch Monkey from C.elexa entirely. He doesn’t feel comfortable increasing the dose, even though it’s currently a tiny dose, given this information. Duhdee and I are back to considering the drug trial. We’re hoping Dr. Nasir and the study doctors can come up with an alternative for his anxiety that will allow him to participate in the trial afterall.

I said before that I would be disappointed if we couldn’t participate in the trial so I’m a little excited about the possibility of doing it afterall but…we just made up our minds! So much torture and now we get to start over…

***I’m rather amused to see what my related posts widget thinks is an appropriate similar post. Did it really have to come back to my liver???***

STX209 – You’ve heard of it, right?

Melissa

We here at Chez Monkey are very excited that there will be a nearby clinic for Seaside Therapeutics’ Phase III STX209 trial. We have spoken to the researcher at UMASS in Worcester and he’s given us the OK to share with you what he told us in our screening call. Duhdee and I are still discussing our participation, that’s a separate post though.

The screening call took about 30 minutes, it could take longer if you have more questions or if your child has more health concerns, Monkey is a healthy boy so we skimmed past most of those pretty quickly.

This first call is to establish preliminary eligibility. If you make it past this call, you will go to the study site for additional screening. So, what are they looking for in this first call?

  1. Your contact info.
  2. What language your child speaks and/or understands.
  3. If the fragile X syndrome diagnosis is confirmed. (If yes, they will want a copy of the report. If no, they can do the testing as part of the screening process.)
  4. What medications your child is currently on. There are some that are not being allowed, SSRIs are a biggie ((This is where Duhdee and I stumbled.)). Don’t assume you won’t be able to work around this though, the study Dr’s are willing to talk to your child’s prescribing physician if you are willing.
  5. If your child is on a medication that is not allowed, and you and your child’s doctor decide to remove that medication…and this is VERY IMPORTANT…YOU MUST TALK TO YOUR CHILD’S DR. MUST! MUST! MUST! The period your child needs to be off the medication will vary depending on what it is. Generally, between 4 and 8 weeks.
  6. What educational interventions your child receives, if any, and when that started (PT, OT, ST, Special Education, etc.)
  7. What behavioral interventions your child receives, if any.
  8. What dietary interventions your child receives, if any.
  9. How your child does with blood draws, there are 3 during the study period.
  10. If your child ever participated in a clinical trial and how that went.
  11. Any questions or concerns you might have about any of what you’d discussed.

If you make it through the screening call you will have to go to the study site for additional screening. The additional screening will involve…

  1. A physical exam.
  2. A medical history.
  3. A psychiatric history.
  4. An EKG. He said it was a simple EKG, non-invasive, and only takes a couple minutes ((He said it was not painful, I could not help myself and replied that Monkey has a different definition of painful than he does, lol.)).
  5. Filling out behavioral questionnaires ((Of course, do any of us ever go to any appointment and NOT have to do this??)).
  6. A blood draw. He assured us the nurses they use are very nice and very patient.

So…you made it all the way through and you are enrolled in the clinical trial. Now what?

First, there are two age groups being included in this trial at the UMASS Worcester site. Ages 12-25, which is, as of August 30, underway and ages 5-11, which should be getting underway in the next two weeks. They have the trial drug on hand and they’ve cleared their ethics requirements, it’s just down to the nitty, gritty, administrative stuff.

The trial will last about 4 1/2 months. During that time there will be 6 study visits to the Worcester location and 11 phone calls with one of the Dr’s. The phone calls will be every 4 days for the first two weeks then dropping down to once a week and eventually once every two weeks. The visits will vary in length, the phone calls should be 20 minutes or less. So, there is a time commitment required here and you will have to stay on their visit schedule.

In the ages 5-11 group, called the HARBOR-C trial, there will be 4 dosing groups:

  1. placebo
  2. 5 mg dose
  3. 10 mg dose
  4. 15 mg dose

That’s a 1 in 4 chance you will not get the study drug. Once the trial is complete, however, you will be given the option of receiving the full dose of the study drug until the FDA approves the drug for marketing.

In the ages 12-25 group, called the HARBOR-A trial, there will just 2 dosing group:

  1. placebo
  2. dose adjusted by doctor during a titration period

As with the HARBOR-C trial, once completed you will be given the option of receiving the full dose of the study drug.

That is about it. It’s not an easy process but it wasn’t terribly painful either (so far, at least.) Duhdee and I are still talking it over and will be sending a follow up e-mail with some additional questions. There is room for 6-8 patients in each HARBOR trial, they’ve had a fair amount of interest but the slots are not yet full so I encourage you to make the call and talk it over.

Michael Hill is stepping aside, the new contact is below!

You can reach Mike Kara at:

Michael Hill Kara Manchester
Research Coordinator
University of Massachusetts Medical School
Biotech I, Suite 100
365 Plantation St. Worcester, MA 01605
Phone: 508-856-2041 508-856-2789
Fax: 508-856-8211
Research Line: 508-856-5896
Email: Michael.Hill@umassmed.edu Kara.Manchester@umassmed.edu

You can find out more information about the Worcester research group at http://www.umassmed.edu/psychiatry/candi/index.aspx.

Check out ClinicalTrials.gov for more information too. If you aren’t local to us, there are 19 other study locations, check here for a list: Clinical Trial Sites.

And, I don’t really think this needs to be said but, Duhdee and I have no affiliation with Seaside Therapeutics. We are vocal supporters but we are not, in any way, compensated by them or anyone else for talking about this process. We encourage you to reach out to them and think about it but we still may very well come down on the “No, thanks” side ourselves. If we do, though, it will be a pretty big disappointment for us…we really want to do this but it’s all about Monkey’s best interests. Obviously.

He grew up a little right before my eyes today.

Melissa

Duhdee and I took Monkey on his very first hike in July and we noticed he had a great time but struggled on the more uneven terrain. Duhdee and I love to hike and we’d finally decided he had the endurance to do some easy ones. We were taken a little off guard to see his struggles and decided we needed to give him more opportunities to practice. All summer long we have been going on longer and longer walks and adding more difficult terrain. Today we tried the longest and most uneven trail of the summer and Monkey did so well! I could see clearly how much more attention he paid to his feet and where he was placing them. He was so much more confident too. He only asked to hold my hand very briefly on a steep part of the trail covered in loose gravel. I was so proud of him!

That is not, however, what the title refers to. The moment today when I was faced with more undeniable proof that my little boy is growing up occurred at the summit. We had sat down to enjoy a snack of grapes and apples ((Honeycrisp!!!)) and Monkey stood, turned to look at me and belched. Duhdee and I, being mature adults, completely cracked up. Monkey looked at us bewildered for a moment, smiled and then PURPOSEFULLY burped three more times…grinning at us the whole time. He taught himself to burp on command. Is he 7 or what??

He talks and talks and talks and talks and…

Melissa

people understand him!

This child had so few words when he turned 4 that our assistive tech specialist gently broached the idea that Monkey might not ever talk. This was, easily, one of my biggest fears when Monkey was little. People familiar with Fragile X reassured us endlessly that it was more likely that he would eventually talk than not and that, even if he didn’t, we would find ways for him to communicate so, when faced with the question, we told them that we knew he might not and they could make other accommodations but we were not ready to give up yet.

Monkey is 7 1/2 now and he won’t stop talking. It started slowly, a few words that made his life better…more, milk, o’s, and then it started to speed up, to use a metaphor Monkey would appreciate, like a runaway train. We’ve hit some sort of critical mass this summer. Instead of new words each week or each day we’re getting new words hourly at times. The best part is that all of his speech is more intelligible these days, we aren’t the only ones who are understanding him. He spent a weekend with my parents and there were very few things he said that they didn’t understand.

As if that weren’t enough, he is now suddenly using sentences and asking questions. “What are you doing up there?” to our neighbors on their 2nd story deck (they were eating waffles.) “What’s that?” when he hears a strange noise (it was an excavator, which is a little too close to escalator for him at the moment.) He’s even combined sentences, when asked if he’d had meatballs for lunch he responded, “Yeah I did. It was great!”

Some of my favorite Monkey sayings at the moment are…

  • Oh, goodness! (sometimes Oh my goodness!)
  • Spuddles! Splash!
  • Hold on tight!
  • Go through it!
  • Go for it!
  • Oh, yeah!

My most favorite is  one he broke out at bedtime a couple nights ago. Every night I say the same thing to him, “Good night! I love you, see you in the morning.” to which he has been responding “Night! Morning!” … now he’s added “love you!” in there too. It totally turns Money into a spuddle…

I’m like a chipmunk.

Melissa

I have all these stories stored like nuts in my fat, little chipmunk cheeks and I think it’ time to share them or risk exploding and spraying chunks of chipmunk cheeks all over the place! Ewww, nice visual. Also, welcome back!

So…I now have so much to say I don’t even know where to start. Let’s start where I left off…the IEP.

We signed the hateful thing. We signed it so we could get Monkey into a classroom at a school that does inclusion well. They are the model for ASD inclusion in our district. There are a lot of things to love about the school. It has an extended day so Monkey will be squeezing an extra school day into each week. Because of the extended day, they are able to provide the kids with a lot more individualized support and a lot more enrichment activities. ((He will be getting extra gym, music, library, etc.)) Awesome. The school also has school uniforms. Not a big deal for Monkey, he will wear a collared shirt if we insist, but probably not awesome planning for some of the kids on the spectrum. Not our problem, I guess. I did at least raise the issue in a “what if this is a problem for a child” way, and I got two responses…one was, “Huh. I never thought about that!” ((And she was the school psychologist at the old school)) and the other response was, “Well, we won’t force them if it’s an issue.” ((Right, because the one thing our kids need is another reminder that they do not quite fit in with everyone else))

So all is set, the IEP we signed calls for them to provide us with all of their data every two weeks ((Any information they gather on his progress, the class has some ABA aspects so data collection is a big part of it.)) and a full team meeting every four weeks ((Fine, it says four to six, we are just going to pester them to set them up every four weeks.)). At one of our final meetings someone said that they aren’t used to parents who want to be so *pause* “involved,” I thought that was a nice way to communicate what royal pains in the @sses they think we are. 😉

Wait, did I say all is set? Oops…there is one little thing that is not quite settled. We received two letters yesterday. One from the transportation department offering us a bus for Monkey and the other from the district assigning Monkey to his 1st grade classroom. Both letters indicated that he would be attending a general education classroom at his old school. Nice.

I’m sure it’s all perfectly under control though ((Dang, I have missed my footnotes! Does it show?)).

A guest post.

Duhdee

The main reason my life is so sweet is that I get to share it with this man. He is an amazing dad, an amazing husband and an all around amazing person. I think you will see why Monkey and I love him so very, very much! 

~Umma

I don’t sign in and post on here often, but today is a special occasion. Today is National Fragile X Awareness Day. I remember when we first found out about Monkey and fragile X syndrome I really didn’t fully accept it, nor did I know anything about it. I thought that it was something we could overcome. It was something that wouldn’t change us or our family that much. Then it set in, our life was going to be different. We were going to have to work hard to see him walk, crawl, talk. It took us so long to connect with other families who had fragile X-associated disorders touch their lives that I started to wonder what would happen to some of my dreams. What about normal accomplishment, would he ever hold a job, drive, finish school, go onto college, play a sport, go snowmobiling with me?

I still remember when Monkey first started walking, it was a huge celebration. Then he start talking and we would celebrate every new word, even if it was months between. Even now, he’s mimicking my phone calls and it just lights up my day. Every little accomplishment is a huge celebration, no matter how long it takes to get there. We continue to work hard for Monkey and push him beyond his comfort level so that he can continue to amaze us.

Is every day a breeze? Definitely not! We have struggles; we’ve had days or evenings where we can’t go to the children’s museum, aquarium, amusement park, zoo, etc. Or we get there and spend so little time inside that our parking is free. We’ve had days where it’s a battle to get out of the house, nights of little to no sleep, challenges with the school district over placement and services. Do I wish live were easier, sure, but then there would just be something else. Umma recently said, “He has fragile X syndrome, but it does not have him!” and that is so true.

Monkey is an amazing child and part of it is because of fragile X syndrome. He has changed me. He has given me the drive to help change the world, help raise awareness for Fragile X and make sure there are plenty of opportunities for all of those affected to live full, satisfying and productive lives. I am lucky enough to have a job which allows me to help raise awareness for all of the fragile X-associated disorders. We are also a part of a larger Fragile X Family and have many amazing friends. We now know that that all of those normal accomplishments can be reached and we will work to get there!

What I want you to know about Fragile X Syndrome.

Melissa

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.

Almost a month?? *blush*

Melissa

I’ve been reading blogs for a long time. I started with design blogs and then added mommy blogs, special needs blogs, fragile x blogs and adoption blogs…you can see the evolution of the last 7+ years of my life in my blog feed. Inevitably some bloggers begin posting erratically and then disappear. Sometimes they’ll come back months down the line to explain. Sometimes the blog just goes offline and you never know what happened. Either way it drives me nutty. I mean, honestly, how hard is it to cough up a few words once or twice a week??

I’m now getting a taste of just how hard that really can be. I’d love to explain what’s going on but I’m mystified. I can’t even bring myself to look at this blog right now. Duhdee keeps saying that it’s my new (ZOMG PINK) iPad but I could blog on it, there is an app for that. I just don’t. I don’t want to stop blogging, I get so much from it…from you all…hopefully this is a passing phase and it becomes fun again. Soon **pretty please?**

I feel badly for leaving so much hanging out there so let us have a quick update type post…

  1. Niece = lucky = mostly healed
  2. IEP = pure misery in written form = probably going to reject the re-write and exercise stay put (unless the school has had an epiphany in the last week *insert hysterical laughter and a coughing fit*…honestly I’m not sure which part of “We won’t ever agree to that.” they aren’t understanding)
  3. Vacation = pure bliss = a week in Maine with my parents. Auntie let me sleep in several mornings and Monkey went out on the boat with Grampa and Duhdee several times giving me some total “Me” time.

Good enough? Good.

I also feel badly for abandoning this blog even though I can’t stand to look at it (conflicted much?) so let us have a cute Monkey story to make everyone forgive my rudeness…

Monkey has begun to pretend to call people on my phone every morning in lieu of playing Angry Birds. His favorite place to “call” is the local pizza place an order for pick up for two large cheese pizzas. SO cute. Even cuter is when he pretends he’s talking about *ME* It melts my heart when I hear him saying “Pick up Money? Bye sweetheart!” Duhdee didn’t even realize that he calls me sweetheart until Monkey started mimicking him, lol.

OH! And how about I say something nice about school too or would that be going too far? I’ll risk it.

Today, Monkey’s summer school teacher told us that Monkey is the most “intriguing” student in her class. She said she can see that there is just so *MUCH* in there that she needs to figure out how to get out of him. It’s awfully nice to hear someone at the school say precisely what we’ve always said.

AND…

At the school meeting we asked about sight word programs vs. phonics programs and the school administrator said they had Edmark and that we could switch it in the IEP. The next day (Friday) we told the teacher that we were going to change it in the IEP and asked if she could get him set up over the summer and by the next Tuesday she had it set up with the reading specialist! Monkey is working on it 3 days a week. Color me amazed.

Too bad she can’t be his teacher next year 🙁

A whine and a smile…

Melissa

***Commence Whining**

Last night Duhdee and I had to finish all those forms you get at an evaluation for a child with special needs. You know the ones that are for ages 5-21, please circle O – Not able, N – Never, S – Sometimes, A – Always, or whatever.

Here is the whine in two parts:

  1. WHY do they seem to ask the same questions eight different ways?
  2. WHY do they not have a smaller age range? Fine, I get that he should not be expected to be able to handle small home repair projects at this age but every time I have to check off NOT ABLE makes my heart hurt…it feels so negative.

***End Whining***

***Commence Heart Warming Story***

This morning Duhdee and Monkey drove me to work, I had to run back in the house to grab my wedding ring while they got in the truck. While I was inside I grabbed these bangles that I bought recently as well.

When I got in the truck Duhdee told me that when I stepped out the door Monkey said, “Woah!” Then he wanted to try on my bracelets, lol.

God I love that kid…

***End Heart Warming Story***