Adolescence

That's what the puppy book calls this stage:  "When you and your puppy reach the budding adolescent stage, you may feel like hiding in the closet......Your puppy won't listen or respond to known directions.  He bolts, chases, and nips at everything that moves.  He demands your attention and barks when he doesn't get his way.  He insists on being the center of attention every moment of every day."  It's like they are living in our house!  Spooky.  I'm glad I read that though, because I was starting to think that maybe his true personality was coming out and that he really WAS a butthead.  Now at least I know it's a phase and eventually it will pass.  If I don't pack him up in a box and ship him off somewhere first.

What's new with Anna

At Seth's first communion

Teaching Romeo tricks



Learning how to ride a two-wheeler


Turning six!!

Anna's been busy just being Anna! She is almost done with kindergarten and is definitely ready for first grade. She's already reading chapter books! She comes up with some interesting words, though...she was looking at the back of her Where's Waldo book where they had the other books listed, and she asked me what one said. I said it was "Where's Waldo, the Fanstastic Journey." She thought a minute and said, "Oh! I thought it said 'Where's Waldo, the Fanciest Junior.' But then I thought, 'that doesn't make sense!'" She cracks me up.

She is trying to learn to ride a bike-the picture above is on a neighbor's little bike, which she can ride, but she won't try her bigger bike. Even though as you can see, she's way too big for that little one. I know she could do it if she would just overcome her fear, but you can't tell her that. I'm sure she'll be doing it in a few weeks.

I can't believe she's six already! That's like moving from little kid to big kid. I don't think I'm quite ready for that yet.

What's new with Seth

Seth turned eight on Marcy 26 (I know I'm behind!) Then he got baptized at the Easter Vigil, and took his first communion a couple weeks after that. The picture above is in front of church. As you can see he was very excited...he didn't want his shirt buttoned all the way up, didn't want to wear the tie, didn't want to do the whole thing at all. I don't know what his problem was. Eventually he cheered up, here he is below with the whole group and Father Charlie. That's Bella to the right.

He saved up his money from his baptism, birthday, and communion and bought himself an electric scooter. It goes 10 mph, he loves to just zoom around the neighborhood. As I try not to freak out and worry he's going to wipe out and break something or get hit by a car. This way he can at least go as fast as the other kids and not get tired so quickly.

He's doing pretty well overall, as his parents we notice the little things, but even his teacher said she didn't think he looked much different physically than he did at the beginning of the year. Summer's coming up so he'll have his round of appointments-MDA clinic, bone density test, cardiology in July. We finally got in with pulmonology in October. And we'll just keep taking it day by day.

Romeo, Romeo

Above and below-11 weeks old

I know this is super old news, but here's the story of our puppy...I had been wanting a dog for a while (which surprised people, but I don't know why. I love dogs! I just knew that I wasn't ready for one till now!), so I dragged Chappie to the pet expo in Grand Rapids even though he said, "we are NOT getting a dog!" We headed for the adoption area and I was thinking we wouldn't find one anyway, because most of the dogs there were older. Then at the back of the room we saw two little puppies sitting there. They both had black spots, but the one we liked had some brown on his face and ears. Chappie picked him up and it was all over-he wouldn't put him down till he was officially ours because he didn't want anyone else to get him.

Seth came up with the name-they were just trying to think of storybook/movie names and he thought of Romeo because of the movie Hotel for Dogs, but it fits because he has a big heart shaped spot on his back and he's a total lover. Especially of little kids. It's hard for him to contain his excitement sometimes.

16 weeks old

He's a really good dog-very smart and listens pretty well for a puppy. The vet said he thought he might get to be 60 lbs. He's a "shepherd mix," mixed with what, we don't know. When we first got him, as you can see, his ears stuck out, then one day one of them flipped, but the other one didn't, so he looked kind of goofy. The other one flipped a few days later, which I think made him even cuter.

Ataluren conference call

PPMD had a conference call with PTC, the company that is developing Ataluren, last week Thursday. They didn't really come out with any new amazing information, they were just re-stating what I had posted earlier about the low-dose seeming to work for the boys in the study. They DID say that they were working on/considering individual INDs for the boys in the study, meaning that they could have access to the medicine before it's approved. I guess an IND can apply to any investigational drug, but they don't always restrict it to study participants. Which in this case is frustrating, since Seth got diagnosed after the admission to the study was closed. Pat Furlong from PPMD said that this is what is needed for the "regulatory package" to get it approved by the FDA, and it is a "fine line" since many other diseases are caused by premature stops as well. But to that I say, well, THOSE diseases were not part of THIS study, so it's not such a fine line to only include boys with DMD with premature stops. Right? And while she said that all boys would have access once it's approved, and we're talking about a time frame of months, in a previous paragraph she says that the FDA MAY require another trial-which would mean more than months......it just seems unfair that Seth can't get it. I am trying to be hopeful and positive, but if some boys are getting the medicine, I WANT IT TOO!!! My logical mind understands the process, but my mother mind says screw the process. We know it's safe, and that it worked for most of the boys in the study, and that's all I need to know.

Apparently there is some conference in July and THEN we will know what the regulatory path forward will be-whether they will submit or have to do another trial. Which reminds me-somebody had posted that on of the study endpoints was a 12 meter or less decline in the 6 minute walk test, and the low dose group had a 13 meter decline (compared to a 48 meter decline for placebo/high dose groups). Seriously? They may not be able to submit because they missed the end point by one lousy meter?

Going along with all that, PPMD is working on some project to restructure the regulatory process for medicines for rare diseases, which will help this whole process in the future, so that will be good, but again, I need it now. I am so glad that there is research that is so advanced now, and I know it's for the greater good, but what about Seth and other boys like him? What about EACH boy? You know? I just wish there was more of a sense of urgency for them.

Carrier testing

My carrier testing showed that I am a carrier. Meaning either the mutation spontaneously happened in my genes, or my mom is a carrier, so my sisters will have to get tested. Anna will have to get tested too, since she'll have a 50% chance of being a carrier as well. They usually wait till adolescence, and if she is a carrier she will have to have an echocardiogram to make sure her heart looks ok, and then they keep an eye on it after that, since a small percentage of carriers can have heart problems. I'll have to have an echo too, so hopefully everything will be fine, there. It's kind of strange to think that I've had this in my body my whole life and had no idea. It was just sitting there, waiting. Ok, I know it wasn't waiting, but that's what it feels like.

As far as the Ataluren, the company that is developing it and PPMD are having a conference call on May 27 for an update on where the process is. I really hope it's good news. I mean, I know the FDA has regulations in place for drug testing for a reason, but if it looks like Ataluren will probably help a lot of boys, then I don't see why we can't just have it!!! It's very frustrating. I hope they don't have to do MORE trials...but if they do I hope Seth can get in and that they don't do a placebo arm this time. I would hate to have to go through all the visits and blood work and muscle biopsies just to find out he wasn't even getting the medication.

Anyway, those are the main updates right now. I plan to post more fun stuff soon. :) All about our crazy puppy and the crazy kids.

Ataluren update

Some further analysis has come out from the Ataluren/PTC124 study. Here is the document if you want all the technical details: ATALUREN . Basically, they found that the boys that were on the lower dose actually did BETTER than those on the higher dose, and in fact, those on the high dose performed almost the same as those on the placebo. The last 48 weeks of the study, all the boys were on the high dose, so when it turned out that this was not showing any improvement, they shut it all down (it was a double blinded study so nobody knew which boy was taking what for the first parts of the study when they were doing low, high, and placebo doses. They must have just assumed that the boys that were responding were on the high dose, so that's why the 2b phase was all high dose?).

So it's promising at least. I'm not a stats person, but they were looking for 95% confidence with whatever system of analysis they were using, but they only got 85%. So I have no idea what that means for the future of the drug. Will they have to do more studies on the lower dose? Will they be able to present for FDA approval based on what they have? I don't think so on that one, because of that whole 95%/85% thing. I think they are still going to look a little deeper to see if whether where the stop codon is on the gene or which amino acids are switched around has anything to do with response.

It's at least encouraging that a lot of boys showed some improvement on the drug. Now, when I say improvement, they were looking at the walk distance, and the low dose boys' walk distance decreased LESS than the high dose/placebo. So there was still decline noticed, it was just much slower. If it's all there is, I'll take it. Maybe it would at least slow the progression enough that something else would come up in the meantime. Maybe it means he can stop taking the steroids and grow normally and not worry so much about breaking bones. I just don't think it will be approved as soon as we thought it would (later this year), but at least I think the company will continue development since it is showing some promise. Fingers crossed that it will move along quickly.

Trouble in paradise

We were talking about what to do for Seth's birthday and he mentioned inviting Isabella. I said we could try, maybe if we see her at church. He thought about it a minute and said, "well...she did say I was getting on her last nerve." So I said, maybe we shouldn't invite her then.

As for school-we've been getting behavior reports every night-but he's still not doing what he's supposed to be doing. Maybe he needs bigger consequences at home when he gets a bad report. We didn't really talk about that.

Conference call notes

The conference call consisted of some people from PPMD and some that work for PTC. Now, the "primary endpoint" of this study was an improvement in the six minute walk test (6MWT)-the distance a boy could walk in six minutes. There were three arms in the study: low dose Ataluren, high dose, and placebo. And the 6MWT was not looked at on an individual basis; they were looking to see if there was any statistical difference between the three GROUPS of boys, i.e. did the boys on high dose perform better than those on the low dose or placebo. And once the last boy had been treated for 48 weeks, they looked at the data and found that there was no statistical difference between the three groups. They had to shut down the study because the primary endpoint was not met-not necessarily because they wanted to, but regulations dictate that they have to.

It's kind of confusing, because even if the boys on the drug didn't improve individually, if they declined slower than the boys in the placebo group, that would still be considered an "improvement." So they weren't just looking for distances to increase, they were comparing all three groups. Even still, no statistical difference.

The reason they used the 6MWT as an endpoint rather than looking at, say, dystrophin production in the muscle or CK levels in the blood, was because the FDA requires the primary outcome of the trial be "clinically meaningful," meaning it must directly impact some aspect of daily life. Increase in dystrophin production is hard to correlate to impacting daily life, because some boys who have DMD make plenty of dystrophin but their mutation is such that the protein is non-functional. This is all important because in order to get FDA approval, clinical meaning has to be there.

So basically, the only data they have compiled right now is the results of the 6MWT. There is still A LOT of other data they need to look at, and it *sounds* like the company is committed to seeing if there is any way to go forward from here. There are a lot of variables to consider: age, steroid use, particular area of the mutation...even though all the boys have a point mutation, or stop codon, the mutations could be on different exons, or have different amino acids that were switched around, so there are subgroups to look at...so we shall see if anything useful comes out in the coming months. It sounds like it's going to be a bit of a long process. I will try to stay hopeful, but maybe a bit more realistic this time-this has really hit me hard and while it's nice to have hope, when it doesn't turn out the way you want, it's very difficult.

Preliminary results-not good :(

Here's a link to the press release: Ataluren

The primary endpoint for the study was a change in the six minute walk distance, and there was no change in the study participants. I know they were checking other things, like dystrophin in the muscle and doing bloodwork, too, but I would think that if there was some big improvement in dystrophin production, they would have said something. They are still analyzing efficacy in patient subgroups, but I don't expect that to be good news, either. As it is, they are calling it a failure, and have instructed families whose boys were in the study to stop taking the medication. PPMD is going to have a conference call with the company at noon and will post the information on their website that afternoon, but again, I'm not very hopeful.

I realize that this is how these things go-trials fail all the time, I'm sure. But we, along with a lot of other families, really had our hopes up with this. And like I've mentioned before, other treatments are in only preliminary stages right now, so they are years out. The trial has let me live in denial that it's not going to be as bad as we thought at first, but it really is...it feels almost as bad as when he was first diagnosed.

Anyway, I'll post if anything interesting comes out of the conference call.

Forbes blog post

Forbes

The last patient in the Ataluren trial has been treated for 48 weeks, so the final results could be as soon as 2 weeks! I was thinking it would be at least another couple months, so this is great. The sooner the final results are tallied, the quicker FDA approval will happen.

And I can see why they'd be motivated to get this drug on the market-the article says that it will cost $150,000 a year! That's $410 a day!! That's insane. Insurance HAS to cover this. I don't want to hear any bs about it being cheaper to pay for a power chair or ANYTHING like that. But. I'm not going to worry about that yet. One thing at a time. Results, approval, THEN insurance.

Anna's big plan

When Anna grows up, she wants to be a princess. Not so unusual for a little girl, I guess. It's just sweet how she's convinced it will work out somehow. I told her that she'd have to marry a prince, and that there aren't really any in Zeeland. She said she'd take a bus to get to where they are. I told her that that was fine, but she had to go to college first so she could have a job she liked. "Princesses don't work!" she said. She also told me that I could be one of her maids. I declined that offer. She already acts like I'm her servant as it is. I told her she better put me up in a nice room in her castle and I would have my OWN maids. And they would have to listen to her maids complain about high maintenance she is. How she has to have her cereal in a certain bowl, with a cup of milk, the proper spoon AND a napkin, or she will flip out. And if her chair is cold there better be a blanket on it, and they better cover her up with it when she wants them to (even if they just asked her two minutes ago if she wanted to be covered up) or ELSE!

Seth's first "girl" friend

Since a few months into the school year, we've been hearing about Bella from Seth. First they were best friends, and then there was some drama and she didn't talk to him for awhile (I was never really clear on why-it sounded like he got involved in some girl drama where Bella told Seth to ask Emma and Sarah something and then Bella didn't like the answer and blamed it on Seth. But Seth is hard to get information out of, so who knows.) Anyway, they are apparently friends again. Which, according to his teacher, may not be a great thing, since she said that Seth and Bella and another kid all feed off each other, but Seth can't reel it back in like the other two can so he ends up getting in trouble.

Well, it just so happens that Bella goes to our church. Today we were coming in at the same time as she and her dad were, so they just HAD to sit together. At first I thought it would be trouble, but her dad was pretty intent on making sure she paid attention, so Seth actually was too. I usually let him play with something because it's hard for the kid to sit so long, but Bella's dad wasn't down with her playing, so she and Seth followed along in her little mass book (the kids all got one last week). It was pretty cute. Especially when were driving away and he said, "I miss Bella already. Can she come to our house some time?"

I'm just so glad he's finally feeling like he has friends. For awhile, he was having trouble with that, but now it sounds like he's been playing with a few kids in his class. His teacher told me a while back that he would always hang out with her on her recess duty day, but when we talked the other night, she said he doesn't do that anymore. I just think now he thinks school is mostly about having fun and socializing. Sounds kind of like his grandpa. :)

Family "Fun" Night

I'm sure everyone has some version of this at their school. It's evil. Awful. NOT FUN! Last year, they caught me off guard since it was our first year, and called me at home and asked me if I would volunteer for a booth. Since I'm not good at saying no, I said I would. So that's how I ended up in the school with 1/2 million other people, in charge of a game where the kids had to smash a rubber mallet down on a device that would then fling a stuffed frog towards a bucket-if they got it in they'd get a prize. And the lady I was with took it, like, SUPER serious. It would have been bearable if she had not been Super Family Fun Night Mom, but as it was, I was stuck for 1/2 hour (or was it an hour? or was it three days?). By the time I was done, my own kids had already been through all the games, so there was no "family" about it for me.

So this year, somebody called me again. Luckily I wasn't by my phone, so I didn't have to worry about it. I have NO problem not calling somebody back. I don't care if it helps the school, I am not doing it! I don't even want to go! Can I just send a check for the ten bucks we'd spend? I know, I know, I'm a bad mom. Oh well.

Another doctor?

Seth has been having trouble in school. Not academically, his teacher says he's right or ahead of where he should be. No, he has trouble listening, focusing on his work, settling down once he gets going, just basically doing what he's supposed to be doing. It's been gradually getting worse, he's been getting more notes home as the year has progressed. Tonight his teacher actually called me because he had such a bad week and she just wanted to talk about it. I was hoping it would get better as the year went on, but that's just not happening.

I hate to say it, but I think it's time to get him evaluated for ADHD. It's definitely not uncommon in boys with DMD to also have attention issues. The two main things I think he has going on (and even struggles with at home) are staying focused and impulse control. I sometimes think it's the kind of thing that if you take a kid in, they're going to come out with a diagnosis...hopefully that's not the case. I really want meds to be the last resort, but if that's what will help him, then I suppose we'll come around.

Anyway. It's definitely not something I want to have him go through, but obviously I know there are worse things in the world. And school's just going to get harder and require MORE focus, so I don't want to keep waiting and then he has to struggle even longer. Like his teacher said, it's a good thing he's so smart...but smart will only take him so far if he doesn't get things done. I think I'll talk to his pediatrician about it next week (sometimes it's nice to work in the same office as her, for sure!)

No cataracts!

We finally made it to the opthalmologist appointment yesterday, everything looked good. I don't think cataracts start this soon, but it's nice to hear anyway. Besides, I read that in most boys, even if they DO get cataracts, they don't usually interfere with their vision. And hopefully the Ataluren will be approved (and work!) before we have to worry about that.

Speaking of Ataluren, I asked a lady that works for PPMD if she knew anything else about the time frame. She said that results are expected in the first half of this year (let's go people, it's March!!!) and then approval early next year. The waiting kills me, BUT I have to try to remember that the boys with deletions or duplications have a lot longer to go till drugs are even in TRIAL. It's just really frustrating for all of us to have all this technology right on the verge but not HERE yet. It's a lot more hopeful than ten or even five years ago, though.

This morning Seth said something to the effect of "if Anna had what I have, then SHE'D have to take these medicines too!" And I told him that girls usually don't get it and tried to explain the genetics of it in a 7 year old way. And then he said, "is it bad?" I asked, "Is what bad?" He said, "what I have-muscular dystrophy." I'm not ready for these questions yet!!! I just said that it can be, which is why he takes the medicines and does stretches and therapy, which satisfied him for now. It's just one of those things where we don't want to tell him too much but also don't want it to be a big "reveal" moment when he gets older, either.

Oops

Today was Seth's optho appointment....and I forgot about it. I thought it was next week! I'll have to call tomorrow and apologize profusely. I feel bad, especially since I WORK in a doctor's office! I should know better! Hopefully they don't do what our office does-discharge a new patient that doesn't show up and not let them reschedule. Especially since I think she's the only pediatric opthalmologist in town. Crap!

I forgot to mention in the last post that Seth's vitamin D levels are normal now, so that's good news. Hopefully keeping those bones nice and strong. We just have to get through slippery ice season...then on to falling off bike season, lol. We try not to limit what he does too much, as long as it's not something obviously harmful, but it is really hard not to be too overprotective. I cringe every time he tells me his merry-go-round stories-it sounds like they get pretty crazy. I tell him that he should probably stay away from there, but who knows if he will. I do take some comfort in the fact that he is a pretty cautious kid. It's all the other kids I worry about. Good think I'm not a playground monitor-I wouldn't last a day. "Hey you! Watch out for Seth! HEY!!!"

Update

I'm not really doing that much better at blogging, am I? Anyway, Seth had his first visit at the MDA clinic this week. He saw the same doctor there (Dr. Chadehumbe), so it's basically to get established with the MDA so you are eligible for services. (Although they stopped one of the bigger ones-money for durable medical equipment-starting this year...kind of diappointing.) Dr. C said he's doing fine, so that's good. Basically we just have to see her every six months at this point and hope there's no big changes in that time.

We did talk about the Ataluren (the medication for his type of mutation), and right now it's hopefully going to be FDA approved at the beginning of NEXT year, which is longer than we thought (this summer), so that's also a little disappointing. I feel like we're in a race against time, and it makes me really anxious when I think about it. So I try not to. :) She said that she's really disappointed in the company, because somehow you CAN buy it right now, but it's $280 a pill! So I guess only rich people get to help their sons?

At the end of his appointment, the lady that kind of heads up things at the Grand Rapids MDA (she might be the director?) came in and talked about camp. Like this: "SO WE CAME IN TO TALK ABOUT CAMP!!!!" And she was telling Seth all the fun stuff they do and the whole time I'm thinking, "he's not going to camp...." And either she was sensing that or she has experience in this department, but she said, "yeah, it's harder for the moms to let the kids go than it is for the kids to go!" And I wanted to tell her it's not THAT (although it would be hard, but if I thought it would be good for him, I'd let him go)....it's that he's not all that aware of what DMD means yet, and I don't think that's a bad thing. He doesn't need to know that he may not be able to walk in 5 years, and I think being around the boys that can't would make him start to make the connection. Not happening. She can think I'm too attached if she wants. :)

So that's about it on the DMD front. Things are pretty much the same and sometimes I can even put it out of my mind completely. It always comes back, of course, and some days are worse than others, but somehow we're getting through. What else can you do, right? I don't know how many times I tell myself that it isn't in my hands and worrying myself sick won't change anything. Maybe someday I'll believe it.

Still nothing...

But here are some pictures anyway.

http://www.kodakgallery.com/gallery/creativeapps/slideShow/Main.jsp?token=454438886805%3A1107550652&cm_mmc=site_email-_-new_site_share-_-core-_-View_photos_button

Not much to report

I know I haven't posted in forever....there just isn't a whole lot going on. I mean, there's a LOT going on, between work, school, trying to squeeze in physical therapy appointments, so we're pretty busy. Seth's doing great. No appointments in the next month or so. He is going to the MDA clinic in January, but that's basically just seeing Dr. Chadehumbe for the same stuff we see her for in the office. I think the main reason to go there is to establish us and then we will be eligible for services if/when we need them. He does have to get blood work before that, mainly to check his vitamin D levels and things like that. He also has an opthalmology appointment in January-just a baseline, because his meds can cause cataracts, so it's basically just another get established appointment. Also still waiting on a pulmonary appointment for the same thing (but don't even get me started on their scheduling process. Ugh!)

We did get Seth started back up with aqua therapy-he loves that. The lady that does it, Chris, is really good with him, so I'm glad we could arrange that. Work has been really awesome with flexibility so I'll be able to take him more often. He started with a new physical therapist, too-this one is in Zeeland, so it's a bit easier to get him from school and to the appointments. And this guy hasn't let him fall and have to get head staples yet, so so far so good. ;)

Another thing we've been busy with is church-I'm going through the Rite of Christian Initiation for Adults (RCIA)-basically it's the process to become Catholic. And quite a process it is-every Tuesday night for two hours for 8 or so months...but I really have been enjoying it. Seth has been doing "faith formation" (I guess that's what they're calling catechism these days?), too, so he'll be able to take first communion this spring, and both kids are getting baptized on January 9.

Anyway, that's about it in a nutshell. I really will try to post more, I promise!