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!

Look Ma, no training wheels!!!

We weren't pressuring him on the training wheels thing-before we just thought he was too cautious, but with his diagnosis we thought maybe he just didn't have the core strength to balance. Last night all the kids were out and and he just picked up one girl's little bike and started trying to ride it. All it took was some pointers from another girl and he was off!



Chappie lowered the seat on his bike so he could try it...he was a little nervous at first...

But then he took off!

Maybe if you click on this one you can see the tongue sticking out-a sure sign he's really concentrating:

Update on appointments

First we had genetics, which was kind of a waste of time. I mean, they told us where Seth's mutation was and how I could go about getting tested to see if I was a carrier, but both could have really been done on the phone. Whatever, I guess. I hope insurance pays for all of it at least.



Then we saw Dr. Chadehumbe, talked about the mutation again...and she said that she thought it would be about a year before the PTC124 (oh, I guess they're calling it atalauren now) would be available, but that it seemed to be working really well and everyone was really excited about it. I can't wait. It isn't a cure by any means, but it really slows the progression and then the disease presents more like Becker's muscular dystrophy, which is much less severe and has a much better life expectancy. She seemed pleased with Seth's flexibility and time scores (she times him getting up from sitting and running down the hall), so everything we're doing seems to be helping. I just want to maintain as much as possible till we can get our hands on the atalauren.

It seems so weird to be happy about a mutation at all. But when your son is diagnosed with DMD and you start to research, you just hope hope hope that he's going to be in that 15% that have this type of mutation, but not really thinking he will be. But he was! It feels like we're finally getting a little good luck.

First day of school!

Seth was excited to go back, but Anna was a little nervous. She got right on the bus though (which, by the way, was not the same bus we rode on orientation night, which was due to road construction, but thanks for telling us!!). She was a little tired that afternoon and had a good emotional hour because we couldn't find her fairy barbie.

Hey, guess who got a note home on the second day of school? Not this innocent kid:

WHERE IS MY FAIRY BARBIE???

Good news?

They were having a local broadcast of the MDA telethon near us so we decided to go. We talked to this family whose 11 year old is the Goodwill Ambassador for Michigan, and they were really nice and the mom gave me all her contact info so I could call her when I was ready. Her son has the gene mutation that 15% of boys have, a point mutation, also called a premature stop codon. Other boys with DMD either have a deletion, a large part of the gene missing, or a duplication, were a large part of the gene is repeated, but a point mutation is (from what I understand, it's kind of over my head) is one where there is just an insertion of an extra amino acid on the protein, or something else small like that.

So, Dr. Chadehumbe (Seth's neurologist) was there, but was on the phone bank at first. So we went out and played awhile (it was a go cart/video game place) and eventually she was out there and she stopped me and told me that Seth's blood work is back (FINALLY!) and that HE has a point mutation as well.

The reason that's good news is because there is this medication, PTC124, that's in clinical trials right now, and at the moment, it's the best thing out there in terms of it showing promise in helping DMD-I'm not sure what exactly it does, but it's much farther along than any of the other research out there, and it's an oral med, while the other ones in trials are injectable or IV at this point. Unfortunately, this phase of the trial is full, so I don't think he'll be able to get in, so I'm not sure when or HOW we can get this medication, but I would like it NOW (sure, they have to test for safety...blah blah blah :). The trials have been in Cincinatti (Cincinnati? I always spell that wrong), so not horribly far away.

We have an appointment next week with the neurologist, so hopefully we'll have more info then.

Feel the love!

The other night Seth snuck into Anna's room (he does it from time to time). When we finally discovered them and made him go back to his own room, Anna said, very dramatically, "BUT! We love each other SO MUCH!!!" Isn't that sweet? Somebody they are both going to be very grossed out by that story. Which is why I had to blog it.

Oh and last week, Anna only had one pair of underwear left. It had monkeys on it. She didn't WANT to wear monkey underwear and she let me know it. I finally got them on her and she forgot about it till later when Seth saw them, and just to make her mad pointed and laughed, and she said, "I am wearing the SILLIEST underwear!" in a very upset voice. Ok, it's not as funny typed out, I wish I had it on video.

AFOs

These are what Seth has to wear at night-the goal being to keep his ankles in as neutral position as possible while he's sleeping, to help prevent shortening of the heel cords. He picked out the snazzy flag pattern. :) We just got them today, so we'll see how it goes. Seth is a bit....resistant to change sometimes. And I'm sure they'll be hot, he has to wear socks with them, but I think he is used to being hot when he sleeps since he likes to wrap a fleece blanket around his neck and then have his comforter up to his nose, even in the summer. When I check on him before I go to bed he's always all sweaty, but that's how he likes it, I guess!

He's been on the deflazacort for over a week now. So far the only difference we've noticed is that he seems a little more easily frustrated, but he's always been like that, so maybe we're just over analyzing him. I just hate looking at him and thinking this is as tall as he's going to be for awhile (since it stunts their growth). I don't care how tall he is, but it's going to be pretty clear that he's "different" pretty soon as all the other kids grow all around him.

Speaking of being different - he and I had a conversation the other night. I was saying that there would probably be some things he wouldn't be able to do in gym class this year because of his muscles and he said, "I wish I didn't have it." I can't remember how it got to this, but he said something about his MD being a secret, and I said he didn't HAVE to tell people, but it definitely isn't a secret-it's nothing he should be ashamed of because it's not his fault. He asked me whose fault it was, and I said nobody's, and he said, "Yeah...God just made me this way." :( I just told him that he just needed to remember that even when things are hard he just has to remember God is taking care of him. And he said, "I know that!"

Also-we managed to get our genetics and next neuro appointments nailed down - September 16. The blood work is *supposed* to be done by then.

The medication

So I've probably mentioned we've decided to put Seth on deflazacort-it's a steroid that is a derivative of prednisone. You can't get it in the U.S. so I had to order it from the U.K.-even so it's not too terribly expensive-about the price of a name brand drug copay with insurance. We chose it over prednisone because it has less side effects, most notably less weight gain, so you don't have to watch the diet like a hawk so much. He will still have to eat sensibly, which is hard because he's picky and mostly likes "kid" food like mac and cheese, spaghettios, chicken nuggets, etc., which have too much sodium in them, and you're supposed to watch the sodium intake, because too much can give them a moon face because they are retaining too much water.

The main benefit of the med is that it's supposed to keep them ambulatory longer, and even after that can help improve their lung and cardiac function, too, and can either put off or eliminate the need for spine surgery that many DMD boys need at some point. Which are of course good things. It's just hard putting him on something that also has so many side effects. Cataracts (although almost always not interfering with vision), osteoporosis, stunted growth...and some neurologists will do growth hormone therapy and think that it helps with strength and flexibility, and obviously feeling "normal," but some think that it doesn't help and can actually hurt, because it's better if the boys are small. I think our neuro is in the growth hormone camp, but we'll just wait and see I suppose. Seth's always been smaller than most other kids anyway, so I guess he's sort of used to it.

I think we'll probably start the deflazacort in the next week or two-I don't want to wait till our next neuro appointment because it will be close to school starting and I want him to have time to get used to it and for us to be able to monitor how it's going before that. Wish us luck.

A neat story

Here's a link to a news story about a family in Grand Rapids, the Friars, whose two little boys have DMD. I have talked to this mom a couple times. http://www.fox17online.com/videobeta/watch/?watch=9168ed45-a43a-4b78-8e47-cd6f480fcb08&src=front

We were going to meet her and the kids tomorrow because we were supposed to have a genetics appointment and then later in the day a neuro appointment, but those are both on hold because the blood work isn't done yet. We're just waiting on the genetic test that are being done at Emory University-she said it could be 3-4 more weeks on top of the 4 weeks it's been already. I guess they wait for a bunch of them to come in so they can do them all at once or something? It's frustrating, but 3 more weeks won't be too terrible.

She just cracks me up

Anna is just so funny lately (when she's not whining!) We were going to go to the musical fountain in Grand Haven and Chappie called it a "magical hill." Well they thought about it all day and wanted to know what it was, so he asked them what they THOUGHT it was and Anna said, "Do ponies come?" That was her idea of a magical hill-ponies would come and then she would ride them.

Also-the day before yesterday, she said something about a "ha-luau." I asked her what that was and she said, "you know, a party at the beach!" Ohh, and LUAU.

I love this picture

It's from our neice Lauren's wedding, Anna was the flower girl (if you click on it you can see it bigger).

"sturdy tricks"

We were playing Uno and Seth kept giving Anna draw twos so she got upset and said that Seth was doing "sturdy tricks" to her. I tried not to laugh because she was really sad, complete with the big, fat tears, but I had to giggle.