New Fragile X drug?

A lot of buzz in the Fragile X world about this post on ScienceDaily:

The first drug to treat the underlying disorder instead of the symptoms of Fragile X, the most common cause of inherited intellectual disability, shows some promise, according to a new study published in the January issue of Science Translational Medicine. Researchers from Rush University Medical Center helped design the study and are now participating in the larger follow-up clinical trial.

Before we all break out the Champagne, there's this to consider:

The research team, led by Sebastien Jacquemont of Vaudois University in Switzerland in collaboration with Baltazar Gomez-Mancilla of Novartis, found no significant effects of treatment when the entire group of 30 patients was analyzed.

But:

However, in a subsequent analysis, seven patients who had a fully methylated gene, a gene that was fully shut down, presumably resulting in no FMR protein in the blood or brain, showed significant improvement in behavior, hyperactivity and inappropriate speech with the treatment compared to placebo.

"The treatment period in this pilot study was very short and longer treatment might have been needed to see improvement in the whole group of patients. Importantly, the drug was well-tolerated and there were no safety problems," said Berry-Kravis.

Quinn has the fully methylated gene, so this drug might be of particular benefit to him. We'll ask his doctor and his Fragile X specialist about it.

Excuse me while I whine just a little bit

I really have nothing to whine about. Some parents we know are at the hospital or the doctor's office All.The.Time. We are so lucky. Quinn is healthy, happy, and making great progress. But we are at the doctor's office more than most "regular" kids, and I am feeling a bit bummed about our last ordeal and some upcoming ones.

As readers of this blog know, Quinn has never, ever been a great sleeper. We have had some brief weeks of reprieve from frequent waking, and clonidine has certainly helped with falling asleep, but in general, Quinn's sleep is terrible.

So last night we took him to a sleep lab for an overnight evaluation. (Which, by the way, took approximately six months to get approved by insurance and scheduled...but that's another story.) The sleep lab people were as nice as they could be, but let's face it, taking your kid to the hospital always sucks. Quinn cried when they attached all the monitoring stuff to him (head electrodes covered by the weird little hat, plus monitors for his legs, heart, and breathing). I'm grateful for the opportunity to learn more about why his sleep is so disrupted, but sad that we have to do it in the first place.

We also need to schedule the following additional medical visits for him:

• Dermatology appointment for the large birthmark on his face, which, because it is getting ever darker, concerns the pediatrician
  
• Eye surgery to correct his strabismus
• Probably a repeat of the ear tube surgery since apparently at least one tube has fallen out, and one ear is "gunky" again (we learned this at the audiologist visit a few weeks ago)
• Possibly another visit to the MIND Institute if we decide to enroll Quinn in the minocycline trial

I'm sure we'll all feel better tomorrow after some rest. We'll just focus on holiday fun (that'll be the next post). Maybe another visit to Holiday Lane will cheer me up.

One of the houses on Holiday Lane this year.

Advocacy works again!

It's been awhile since I posted, but we just got great news this morning, and it's of the type I always try to publicize. About two weeks ago we received a flier noting that our son's preschool was being moved to a new cite as of January 3. This flier was not very informative about why or how this change would occur, and it did not give any specific information about the new site, other than the address. Then this week, we received a letter which provided slightly more information and invited us to attend a parent meeting at the new site so we could see it and ask questions.

The new site was woefully inadequate. I will not go into all the details here, but without significant building improvements - unlikely to be completed by January 3 - the site would not have provided a sound educational experience, at least for children in special education preschool.

Luckily, all of the parents in my son's class attended, and we asked many pointed questions. Our concern, distress, and frustration were clear. At the meeting, I asked if the move was a "done deal" and was told that it was. A fellow parent and I started preparing a formal letter to challenge this transition.

However, today we got a surprise from the administration - a letter stating that because of our input at the meeting, the children would be able to complete the school year in the current site! Great news for the current situation, and a reminder that advocacy works - at least sometimes.

August Update

Well, it's been quite awhile since we updated our blog. It's also been about two years since we learned that Quinn has Fragile X Syndrome. About a year ago I wrote this post, reflecting on how our first year after the diagnosis had gone. I guess the main difference between this year and last year in terms of our adaptation is that it's softened - more background than foreground.

There are moments when we are acutely aware of Quinn's special needs, but most of the time, we're just doing what most people do. We work, do chores, visit family, go to the zoo, wipe our kid's snotty nose, enjoy family meals, go on road trips, catch movies when we can, do laundry, and do all of the gazillion other activities that make up our lives while trying to remember how precious, awesome, and fleeting all of this is.

Quinn's doing amazingly well. He is already doing things I wasn't sure he'd ever do, especially in those dark days just after the diagnosis. He is talking more. He can name many shapes, including "hard" ones like ovals, rectangles, diamonds, and crescents. He can count from 1 to 10. He can follow simple directions. He can sort of put his shoes on, sometimes, like when the constellations are aligned, though even then usually they are on the wrong feet. He can drink from open cups or from straws. He doesn't use a pacifier anymore. He sleeps in a bed, sometimes, all the way through the night. He gives great hugs. He is still very, very happy. Contagiously so. In short, he is a wonderful little boy.

We continue to be lucky to be surrounded by supportive family, friends, neighbors, service providers, and other wonderful people that make this journey possible.

By the way, the great haircut in the pics was just done today, by a neighbor/daycare provider who's been watching Quinn this week while his usual nanny's been away. She did it just because she likes to cut kids' hair. He hasn't had a cut this good, well, ever. And apparently there were no tears. So much to be grateful for.

Why You Won't See Us at the Fragile X Conference

July 23, 2005

Chesterman Beach, Vancouver Island, British Columbia, Canada

This is where we spent our honeymoon...and where we will be on July 23. In the same hotel, in the same room we were in five years ago. I can't wait! Thanks to all the grandparents and Quinn's nanny for making it possible for us to take some time away from our little angel. We hope to make it to the conference in 2012!

You Can Do It!

I said this to Quinn the other day, while asking him to take his own shoes off. After the phrase came out of my mouth, I realized that I rarely tell him, "You can do it," and I felt a little guilty and sad. I am pretty sure that if Quinn were typically developing, I would have started saying this at least once a day a long time ago.

I think Quinn will teach me a lot about how to empower a person with a disability as he develops. He already has many skills, and can do so many things. But I rarely encourage him to be as independent as he could be. Sometimes it's because we are in a hurry, though admittedly, it's probably less often that we are in a true rush, and more often that I am just impatient. I need to take the time, sometimes a very loooong time, to wait for him to do more things for himself.

Many of my friends with typically developing kids have already developed the patience to wait for their kids to dress themselves, feed themselves, get in and out of car seats themselves, etc. But often this is prompted by the kid who says (or screams), "I can do it!" Quinn does not yet do this very often. He is perfectly happy to be taken care of, so we have to take the initiative to encourage him to do more for himself.

Quinn & Grandpa Bill reading

Quinn & Elmo

For those of you not following Sarah on Facebook:

Sarah: hilarious to open my son's door this morning and see him dancing, naked, to the sounds of his singing Elmo doll

Zac: It was very funny. I was also impressed by his ability to get Talking Elmo to do the dance song over and over again: it's the first one in the sequence when you press the belly button. So Quinn would play the song, then turn Elmo off, then on (the switch isn't easy to operate, either), then press the belly button and get the song again. He was quite methodical about it.

Quinn gets to sit in a fire truck

NYT article on Fragile X drug from Novartis

From the April 29 2010 New York Times:

An experimental drug succeeded in a small clinical trial in bringing about what the researchers called substantial improvements in the behaviors associated with retardation and autism in people with fragile X syndrome, the most common inherited cause of these mental disabilities.

[...]

The Novartis trial, which began in 2008 in Europe with data analysis completed this year, was too brief to observe effects on basic intelligence. Instead, researchers measured a range of aberrant behaviors like hyperactivity, repetitive motions, social withdrawal and inappropriate speech. They gave one set of patients the drug and another a placebo, and after a few weeks switched treatments, with both doctors and patients unaware of which pill was which.

The results of the trial were something of a jumble until Novartis scientists noticed that patients who had a particular, undisclosed biological trait improved far more than others. “The bottom line is that we showed clear improvements in behavior,” Dr. Fishman said.

It's interesting because this trial was on adults. They suspect that the drug may benefit children more. We'll be keeping an eye on this.

Another dull post about sleep written by a sleep-deprived parent

It's looking like we will need to take Quinn for one of those overnight pediatric sleep evaluations, assuming we can get our insurance to pay for what I'm sure is an absurdly high fee. Quinn is taking over an hour to fall asleep with meds and still waking up multiple times per night, and at least twice a week he is up for hours in the middle of the night. We are so tired.

The cause of all this is not just that Quinn doesn't "need" more sleep. He is tired and cranky often. Sometimes in the middle of the night he is happy to be awake, but usually he is red-faced, crying, frustrated, and unable to get to sleep. He nods off instantly almost every time we take him for a drive. He is often late to school because after being up for hours in the night, he finally falls asleep at 6 in the morning, and we don't have the heart to wake the exhausted little man.

And though I am a bit grumpy due to sleep deprivation, if one more person says something about how "normal" it is for kids to have sleep problems, I might say something quite rude. There is nothing normal about kids and parents not getting adequate sleep for more than a few weeks at a time for over three and a half years even after reading numerous sleep books, getting ear tubes (which were supposed to help with sleep by relieving uncomfortable pressure), making multiple doctor visits, and trying three different sleep medications.

Grrr. End of rant. Off to bed.

Sibling rivalry

We bought this doll for Quinn awhile ago, just because I thought it was cute. It makes gurgling and drinking sounds when you "feed" it with the attached bottle. He has not really been interested in the doll.

Tonight I was playing around and holding the doll like a baby and feeding it. Quinn grabbed it from me and slapped it and said "bye bye"! I held the baby again, just to see what he would do, and he repeated the grabbing, hitting, and "bye bye".

It's fun to see Quinn exhibit developmentally "normal" behavior. And I guess it's good we have no immediate plans to give him a sibling.

Quinn checks out the iPad at the apple store

Quinn gets a big plush bunny for Easter

Quinn does his favorite activity: looking out the window at cars and trucks

Quinn video!

Now that I have my new iPhone3GS, we should have more Quinn videos! Here's one of Sarah reading Mouse Mess, with Quinn chiming in with the occasional word when we encourage him. He's better at this than I thought he would be. I think there are some words that he just knows by sound and can say even though he doesn't know what they mean (e.g. "about," which he doesn't say in this video but he did for me just before).

Oh my God, this is hilarious

From The Onion, of course:

Autistic Child Ruins Marriage He Was Born To Save

HOUSTON—With the challenges accompanying his developmental disorder widening the already vast gulf between his parents, autistic child Evan Thomas, 3, continued this week to destroy the failing marriage he was brought into this world to save.

Evan, who through the very act of being born was entrusted with the task of resolving lingering conflicts, soothing deep-seated contempt, and restoring intimacy to Mark and Sharon Thomas' long-strained relationship, has thus far utterly failed in his assigned duties, sources reported Monday.

[...]

Read the whole thing.

Look Who's in a Big Boy Bed!

We didn't intend to start putting Quinn in a Big Boy Bed just yet. But last night, he was crying at bedtime, so I took him out of the crib and figured I'd read him an extra story. I was very surprised when he walked over to his tiny toddler couch-futon, opened it up, and laid down! So for nap this afternoon and for bedtime tonight, we just put him in it. He seems very happy! This particular Big Boy Bed will have to be temporary. There's no way to wash it as it's just a piece of novelty furniture (looks kinda like this, with starfish, not Thomas), and it's too tiny for one of us to lie down with Quinn if he needs some extra cuddling when he's sad or sick. So this week, we'll be getting him a full-size futon to put on the floor. It seems like Quinn's just growing by leaps and bounds lately. He's really not a baby anymore. Well, except for that binky. But who knows, maybe he will surprise us and just toss it in the garbage tomorrow.

Excuse me while I brag about my kid some more

Quinn has had an amazing couple of weeks. Potty training continues - he's been doing #1 all week in the potty at home and at school, and just this morning, he did a "real" #2 at home! He still needs his pull-ups, and doesn't consistently ask to use the potty when he needs to, but we are delighted at his interest and willingness to use the potty at least sometimes.

He's also talking A LOT. Saying "watch" because he like's Zac's new watch and "banana" even though he won't eat one. I'd say he has about 25 words now, most of which he does not say consistently, but he is really coming along.

So very excited to see all of his progress. We're off to the toy store to get the little guy a special treat.

Potty talk

I'm almost too tired to blog this, so I'll keep it short. Besides, this isn't something you'd want too much detail about. Quinn did a tiny (as in, you'd need a magnifying glass) #2 in the potty today. We weren't thinking he was really ready, but he was showing interest, which was fine by us. So it was a complete surprise. But it was definitely intentional, as evidenced by Quinn's giant smile of pride at his accomplishment, even before I offered praise and a chocolate chip. I am SO proud of my little guy.