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.

Bone scan and head staples

Seth had a bone density test a couple weeks ago-it showed he has osteopenia, which means his bones are weak, but it's not as advanced as osteoporosis. It's measured by a z-score, and his was -1.5, so they're not super fragile or anything, but still something we'll have to keep an eye on. Especially once he starts the deflazacort, because that can cause osteoporosis as well. Dr. Chadehumbe already did some blood work on his vitamin D levels, I haven't yet seen what the results of that were, but I'm sure she'll be putting him on some supplements to help his bones. Then she has his levels checked and bone scans done periodically, too. A lot of DMD boys have bone weakness-in fact, I was talking to a mom last week, and that's how her son was diagnosed-he kept breaking bones, which led to the eventual diagnosis.

As for the head staples...I wasn't there (and Chappie wasn't in the room) so we're just going on what Seth has told us, but he was at physical therapy and she was having him do some activity that involved him standing on a balance board and then they had to do something with a ball on a string and they each had some thing they had to open and close, so she wasn't standing right next to him and he lost his balance and fell back and hit the back 0f his head on a table. He went to the ER and they put 5 staples in it. That was a little traumatic, but it's not bothering him at all now, and he'll be able to get them out in ten days. I asked him if he wanted to see them and he said no.

I understand accidents happen, but how could she not know the kid doesn't have good balance? If you did five minutes of research on the disease, especially if you wanted to know how that would affect how you treated him, you would know that these kids don't have great balance. You would think you would want to practice on the balance board a few times rather than leaving him on it alone at his third session. PLUS, nobody called from that office to see how he was doing, or apologize, or anything. I know that they can just go on the hospital system and see what they ended up doing at the ER, but somebody still should have called. Don't you think? Are they so worried about a lawsuit that the PT can't even call and say she's sorry? Heaven forbid anybody take the blame for anything.

Some recent pictures

Goofy

More goofies

MICHIGAN'S ADVENTURE!!!

Seth on the carousel at Michigan's Adventure-mad because he didn't realize his frog didn't go up and down.

Anna's horse went up and down, so she's all smiles.



I don't know where they got this basket thingie from but they like to wear it on their heads. It cracks me up every time.

Would you want to know?

In Wales, they test newborns for a variety of genetic diseases, including MD. I was reading an article by a lady who had it done and her son was shown to have DMD. She was upset that they weren't given more information beforehand to make a more informed decision, and ultimately, she said she wishes she hadn't known that he had this disease so soon. She said that she never got to fully enjoy her son because they had the diagnosis hanging over their heads.

I can see what she's saying. While I would have liked to have known maybe two years earlier (just to have started treatments sooner), at least we had 7 years of blissful ingorance. Because once you know, it DOES overshadow everything. I don't think I would have wanted to know right away-BUT on the other hand, I don't think I would feel the same way if my second child had been a boy who also had DMD. At least if you have the knowledge before you have any more children, you can make the choice to have more, or to try other methods that would make another child with DMD less of a possibility. (Of course, none of this is to say I wish we didn't have Seth-that's not at all how I feel or my point-but I think you probably know that). But we probably wouldn't have had the means to do those other methods and may have just chosen not to have any more, and then we wouldn't have Anna, and that is unthinkable.

Another woman commented on that original article and said that she misses the days before they knew. She said that the kids have had happiness since the diagnosis, but she and her husband had not. They had NO happiness. Which is sad. I hope that I don't look back and say that. Obviously I will never be happy with the situation, but I hope that we can still find happiness in our lives.

Frustration

So we have to get this bloodwork done to determine where the mutation on Seth's gene is, plus she wants to check a bunch of other levels that have to be monitored once he starts the deflazacourt. It's been two weeks and the insurance company still has not authorized it. I called yesterday and after being put on hold three times the lady said that all she could say was that it was received and that it was in process. When I asked her why it took so long, she said (rather snippily, I might add), "that's the process."

I honestly don't understand what the hold up is. Like the doctor said, the old way-a muscle biopsy-is way more expensive. You have to get an anesthesiologist and a surgeon and it's a much bigger deal. I understand that it's a more complicated blood test and has to be done at a university in Georgia, but it's still cheaper than a muscle biopsy. There is another family I've been talking to who live in the area whose son was diagnosed last year and they are STILL waiting for their insurance company to pay for the test-they didn't do a pre-authorization on it. Their insurance company is claiming it's a non-essential test. A genetic test is not essential in helping diagnose a genetic disease? Since when???

I was thinking yesterday that I should probably get used to this waiting game when it comes to insurance. And I am so grateful that we HAVE insurance, and it's pretty good insurance, too. I'm just really frustrated with this "process." We can't start the meds till we get the results of those other levels. I suppose we could do it separately but then Seth would have to endure TWO blood draws, and if we don't have to do that, I'd rather not. He had one and it didn't go too terribly but it did hurt and he wasn't a big fan of the whole thing...and I guess two weeks won't make that big of a difference in regards to starting the meds, but I just want to get it going!

Today's appointments

Everything went well. They did an EKG and echo of his heart and they looked good. So basically we have to go back in a year to make sure there were no changes.

We also had another appointment with the neurologist, Dr. Chadehumbe. The appointment was originally to go over the bloodwork (to check various things and most importantly to find out where on the gene the mutation is) but we are still waiting for our insurance to even approve it so we can get it done, but she said we could still come in because we had a lot of questions. We discussed steroid therapy, which we will probably do. We are going to use deflazacourt-it's not approved in the U.S., basically because DMD is relatively rare and there is not a lot of money in that particular med. We chose it because it has far fewer and less severe side effects than prednisone-most notably weight gain, which we don't want because the heavier he is, the more his muscles have to haul around. There are still side effects, including osteoporosis and cataracts, but his bones will be monitored with bloodwork to check vitamin D levels and bone scans will be done periodically (he is actually getting his first one next week). The studies showed that even though most boys got cataracts, they were almost always small and did not interfere with vision at all.

I am so glad Dr. Chadahumbe chose to come to Grand Rapids-she worked with Dr. Wong at Cincinnati Children's, who is one of the top doctors in the field. A lot of people bring their kids from all over (including here) to see Dr. Wong-they see 400-500 boys at that clinic. As Dr. C was saying today, the training most neurologists get is very limited on DMD-but she got lots of experience in Cincinnati and really keeps up with the latest research and treatments. So I feel like we're getting the benefit of 400-500 patients of experience, but with a personal touch.

It was weird-on the way there we saw some firefighters out with boots (to collect money in), but we just thought they were collecting for their station or whatever. On the way back I actually saw the signs-they were actually collecting for the MDA! So we had to stop and give some money. Which we will probably get back in some form. :)

A little light

Anna was so cute last night. I got some new scrubs and was trying them and showed her and she said, "Mommy, you look BEAUTIFUL. I knew you would look pretty in that!" I think I'll keep her-she's good for the old self esteem. :)

Appointments

I know this will probably slow down but the amount of appointments we have is a little overwhelming right now. This week he just had his initial PT eval-she gave us some stretches and we're going to get started on orthotics for his shoes (his arches roll in and his feet start to hurt) and night splints for his legs to stretch him while he sleeps.

Next week however-he has four appointments. Neurology, cardiology (just a baseline, but I'm still a little nervous and hope everything is looking good), PT, and fitting for the orthotics/splints. I would guess he's going to start to wonder why all the appointments? For the most part he's a go with the flow kid and he knows it's for his muscles and that he has issues with them, so maybe not. We're just playing that part by ear. We don't really want to overwhelm him, you know? I'll keep you posted on how the appointments go.

Diagnosis

I was just looking back through these posts and realized that I had posted a few years ago about how I feared once Seth started school he would notice how much behind he was other kids, or hopefully start to catch up. Well he didn't, and now we finally know why-he has Duchenne's muscular dystrophy. Even typing that seems so weird...I know it's true (I guess nothing is written in stone till the bloodwork comes back but it's a pretty classic case) but I just can't wrap my brain around it. I suppose that's not something that happens overnight.

It just seems so unreal because I honestly didn't even have a clue. We brought him to an orthopedic specialist last week Thursday because he was just still so stiff and still not up to speed. She wanted to do a blood test to rule out MD-I read her dictation from the visit and she honestly was leaning toward cerebral palsy-both of which were surprising to us since we just thought he had stiff muscles, you know? So when his bloodwork came back and showed pretty definitely it was MD, it was a total shock. I did what people do in the computer age-I googled my ass off and it all kept coming back to Duchenne's-the most common and I think the most debilitating with the shortest life expectancy. I didn't want to believe it, but I knew it was true.

So anyway, then we went to the neurologist-she wasn't there at first so the NP was doing all the stuff they need to do and as the visit progressed I could see her face getting more and more serious and the dread in the pit of my stomach just got deeper and deeper. Then the neurologist came (she had been on call at the hospital) and all of a sudden there are three medical professionals in the room, all sitting there with these grave looks on their faces. So in the space of about a week we went from thinking that he just had some muscle stiffness to knowing that he has this horrible disease that is going to kill him. Not tomorrow, but someday, and along the way we will have to watch him slowly deteriorate. How do you even begin to deal with that?

I was just thinking today that as mothers we do so much to protect our kids. We strap them into their five point harnesses, slather them with sunscreen, make them wear bike helmets, try to get them to eat some decent food, etc. But what do you do when it's his own body that is the thing that is going to do him the most harm?