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.