It was kind of a long day, but it was sort of my fault-they originally had scheduled the kidney ultrasound and then the appointment with the doctor right after, but I rescheduled (but it was for MEAP!) so the only way it worked out was ultrasound at 11 am, then kidney doctor appointment at 2 pm. The ultrasound took maybe 25 minutes, so then we went to Yesterdog for lunch (definitely the highlight of the day. I love that place!), which took us to like....12:15. We drove around, drove by my dad's old house, back to the hospital, had some ice cream, rode the elevators, Seth got to do a revolving door...then headed up to the appointment early (I forgot my phone AND my watch-the horror!), I think around 1:30 or so. We didn't end up seeing the actual doctor (a nurse, then a resident, but no doctor) till 3:00! I was totally done. Seth did fine though. How my impatient 8 year old had more patience than me...well that says a lot, doesn't it? :)
Anyway, his blood pressure wasn't too bad when they took it there, and she didn't say anything about the ultrasound. We talked for a few minutes-went over his history and whatnot. She asked if he had a "mild" form of Duchenne. Umm. No? Since there is no such thing? I mean, I guess I don't expect a kidney specilaist to be an expert in a neuromuscular disease, and I suppose that speaks to how good he looks, but still. Then she did a brief exam and then said she wanted to do a 24-hour blood pressure monitor, which he didn't want put on then, because then he'd have to wear it to school. So we went back Friday afternoon and they put it on-what a pain! It's a good thing he didn't have to wear it to school. It's a little bigger than a deck of cards, and then he had a cuff on his arm, plus 47 miles of tubing that we had to try to tuck up in his clothes. The thing would take a reading every 20 minutes, every hour at night. I was sort of keeping an eye on the readings, and they were at least in the 90th percentile, but more often higher-99th percentile and even off the chart a lot of times.
Ok, so I'm expecting them to put him on BP meds. It's not like I want him to take another medication, but if it will help protect his heart, I'm all for it. There are some studies that suggest ACE inhibitors are even good for prophylaxis for boys with DMD even before the cardiomyopathy sets in. And I don't think there are any major side effects to worry about. I get a call Thursday from their office saying that they downloaded the data, and it looked fine and they wouldn't treat him. I was driving so I just said, "ok," and hung up, but I was confused. I mean, maybe that's fine for an otherwise healthy kid, but since he's not, and since the heart failure is the way most DMD boys die (since the heart is a muscle-DMD affects smooth muscle in addition to skeletal muscle)...I talked to his pediatrician and she eventually talked to the kidney doctor and now they are going to treat him, so that's good. It just gets tiring feeling like you have to fight for everything.
But! In happier news-five days till Disney!! We are all beyond excited. :)
Monday, November 15, 2010
Thursday, November 04, 2010
A love/hate relationship
The kitty has recently been getting braver and actually coming upstairs. It only took six months! She finally decided to take her house back. Now, if Romeo would just calm down....he snuffles her and bumps her with his nose and sniffs her butt and just will not leave her alone, till she gets mad and bats at him with her highly ineffective clawless paws. Sometimes she even gets a clear shot to bite his ear...but he doesn't seem to care. He is relentless. He's just trying to play but since she is 1/5 his size and 10 times his age, she's not really that into it.
As you can see by her face, she is not amused by the ear sniffing.
Right in the eye!!!
Maybe in another six months he won't try to gnaw on her every time she tries to walk anywhere. Maybe she'll even want to lay by him. Maybe.
Saturday, October 23, 2010
Family pictures!!
We had these done last weekend...some I like, some I don't....good thing we had a couple good ones to choose from I guess! Here's the link to the site: Marc photography . Just go to "proofing" and scroll down till you see "Hart family." (I guess she didn't know it was HartZ?)
Disney! And a few other things
The countdown has begun, four weeks to go! We are going the week of Thanksgiving. The kids are excited but it still doesn't seem real to them, I don't think. I am REALLY looking forward to it, though! We all need to get away and do something fun. We booked a really nice kennel for Romeo, too, so he'll be getting a vacation too (even though I am going to feel bad for leaving him there...but I'm sure he'll be fine!)
I am a little frustrated with some people on the PPMD message boards (which I think are public now, in case you are ever bored and want to read up) with the whole Ataluren thing. I don't understand how someone could read that press release and say things like, "this is not news," and "I am losing hope with this one." Did they read the same thing I did? Because it looked to me like they were going to try to get it approved...there is a PPMD staff member whose role is mostly related to research, and even SHE seems to think that...she said, "there is precedence for drugs being approved on different endpoints after re-analyzing the data. That's why it's been so quiet over at PTC for so long--they've been frantically compiling evidence for the new drug application based on the low dose data (about 14,000 pages worth)." I guess I understand that there are a lot of ups and downs when it comes to research, but this is the closest any med has ever gotten and I refuse to believe it's not going to get approved. Hopefully that doesn't mean I'm in for a huge letdown. There are people on there who post every new research tidbit, and it seems like people get more excited for the drugs that are in infancy stages and most likely will never even GET to human trials than for this one that is SO CLOSE. Anyway. Just a vent.
Another frustration, just with the disease in general-a boy who I think used to be a patient of our office that had DMD died in the last few days, he was 23. I had never even met him, but everytime I hear about someone that has passed away, I think, "23...that's 15 years away for Seth." And that's not enough time. Hopefully we will have more, but it really gets me down, even though I shouldn't let it. But it's impossible not to think that, to be hopeful and focus on the moment ALL THE TIME, as much as I try to. And I am successful most of the time, I really am. I was listening to a podcast interview with a lady whose twin sons have DMD and the interviewer said something to the effect that she just couldn't imagine, and how did the lady pick herself up off the floor? And I was thinking, "you just do. You HAVE to." Even though your heart is broken and you feel so powerless, you have to get on with life.
So this was supposed to be a happy post about Disney...but I wasn't feeling super happy, so there you have it.
I am a little frustrated with some people on the PPMD message boards (which I think are public now, in case you are ever bored and want to read up) with the whole Ataluren thing. I don't understand how someone could read that press release and say things like, "this is not news," and "I am losing hope with this one." Did they read the same thing I did? Because it looked to me like they were going to try to get it approved...there is a PPMD staff member whose role is mostly related to research, and even SHE seems to think that...she said, "there is precedence for drugs being approved on different endpoints after re-analyzing the data. That's why it's been so quiet over at PTC for so long--they've been frantically compiling evidence for the new drug application based on the low dose data (about 14,000 pages worth)." I guess I understand that there are a lot of ups and downs when it comes to research, but this is the closest any med has ever gotten and I refuse to believe it's not going to get approved. Hopefully that doesn't mean I'm in for a huge letdown. There are people on there who post every new research tidbit, and it seems like people get more excited for the drugs that are in infancy stages and most likely will never even GET to human trials than for this one that is SO CLOSE. Anyway. Just a vent.
Another frustration, just with the disease in general-a boy who I think used to be a patient of our office that had DMD died in the last few days, he was 23. I had never even met him, but everytime I hear about someone that has passed away, I think, "23...that's 15 years away for Seth." And that's not enough time. Hopefully we will have more, but it really gets me down, even though I shouldn't let it. But it's impossible not to think that, to be hopeful and focus on the moment ALL THE TIME, as much as I try to. And I am successful most of the time, I really am. I was listening to a podcast interview with a lady whose twin sons have DMD and the interviewer said something to the effect that she just couldn't imagine, and how did the lady pick herself up off the floor? And I was thinking, "you just do. You HAVE to." Even though your heart is broken and you feel so powerless, you have to get on with life.
So this was supposed to be a happy post about Disney...but I wasn't feeling super happy, so there you have it.
Friday, October 15, 2010
Super fantastic news!!!
More data from the Ataluren study has come out and it looks good! ATALUREN
Some highlights:
They are finally moving ahead with submitting to the FDA! I don't know how long that will take, but since it's on the "fast track" (which isn't fast enough in my opinion, but faster than other meds I suppose) hopefully Pat Furlong was right when she said next spring.
Some highlights:
"We have initiated interactions with regulatory authorities to continue our efforts to bring ataluren to patients."
"These results suggest for the first time that a therapy which addresses the underlying cause of the disease can slow the loss of walking ability, the primary clinical symptom of dystrophinopathy"
"- 29.7 meter average change in 6-minute walk distance compared to placebo at 48 weeks - - Safety results show ataluren was generally well tolerated - - Data to be the basis of interactions with regulatory authorities "
They are finally moving ahead with submitting to the FDA! I don't know how long that will take, but since it's on the "fast track" (which isn't fast enough in my opinion, but faster than other meds I suppose) hopefully Pat Furlong was right when she said next spring.
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Sunday, October 03, 2010
In a nutshell
I am really not that great at updating, am I? So I will just try to cram it all in with one post. Sorry if it's disorganized. Seth is doing pretty well. We are definitely seeing some slowing down...if only Ataluren would get approved already! I was reading a post on the PPMD message boards and some guy was saying that he didn't think they would "risk" the medication for Duchenne since the data was not as good as they wanted, and would instead focus on the cystic fibrosis application of it instead, since maybe more money would be in that. Of course that guy has no knowledge and it's just his opinion, but it's still discouraging...hopefully I will get to talk to Pat Furlong when she's in town next month and find out the REAL scoop.
We decided to take Seth to the MDA clinic in Cincinatti-Dr. Wong is there, and she is one of the best, from what we hear. We may not see HER, but I'm sure whoever else is there is good too. The main reason, besides their reputation, is that it's just getting really frustrating trying to schedule appointments with so many different specialists here, and if you go there, you see them all, all in one day. It'll be a long day, but then it's all done for the year. The thing that finally did me in was the pulmonary office. Besides the fact that it takes seven months from the time of the referral to the time of the actual appointment...they are just not at all accomodating. I called with what I thought was a good notice (three months) to see if we could maybe reschedule for a day we would already be in town to see Dr. Chadehumbe. Nope. She said that if we cancelled, we would go to the bottom of the list. I said, "so...we go to the bottom of the list, wait for YOU to call us, then we have to take what ever appointment you give us?" And she said, "yes." Basically they will not work with you one iota to try to make the appointment work for you at all. And they can't blame it on their scheduling system anymore, because the one they have now allows you to schedule whenever you want. I have talked to other people about it and lots of people have problems with that office. I plan to have a word with the office manager when I call to cancel our appointment for real.
We have an appointment in a few weeks for a wheelchair evaluation. He doesn't need one full time by any means, but it would be nice to have one for when we go places. We met up with a bunch of families (I don't think I posted about that?) about a month ago with boys all around the same age as Seth, and everyone had something, whether a chair, or a big stroller type thing, or a scooter to use for that purpose. Plus, our insurance only will cover DME every three years, so it's a good time to get something right now. It will be just a regular wheelchair but will have power assist wheels-so he can push the wheels and they have motors in them that give him more force. It will be nice to have, but it's still a big step that I'm not sure I'm ready for.
I think that's about it...school is going well for both kids, they've started their faith formation (previously known as catechism) classes for the year...Anna is excited because her friend Maddie is in her class, so that's fun-they go to different schools this year so don't get to see each other much. I will try to keep this more updated with regular day to day stuff. I was talking to this other family about how the course of this disease is not such that things change super fast (well, too fast for my taste, but you know what I mean). He's usually going to be about the same from one week to the next, so there aren't always a lot of updates to be had with regards to his health...so I will try to post other things. :)
We decided to take Seth to the MDA clinic in Cincinatti-Dr. Wong is there, and she is one of the best, from what we hear. We may not see HER, but I'm sure whoever else is there is good too. The main reason, besides their reputation, is that it's just getting really frustrating trying to schedule appointments with so many different specialists here, and if you go there, you see them all, all in one day. It'll be a long day, but then it's all done for the year. The thing that finally did me in was the pulmonary office. Besides the fact that it takes seven months from the time of the referral to the time of the actual appointment...they are just not at all accomodating. I called with what I thought was a good notice (three months) to see if we could maybe reschedule for a day we would already be in town to see Dr. Chadehumbe. Nope. She said that if we cancelled, we would go to the bottom of the list. I said, "so...we go to the bottom of the list, wait for YOU to call us, then we have to take what ever appointment you give us?" And she said, "yes." Basically they will not work with you one iota to try to make the appointment work for you at all. And they can't blame it on their scheduling system anymore, because the one they have now allows you to schedule whenever you want. I have talked to other people about it and lots of people have problems with that office. I plan to have a word with the office manager when I call to cancel our appointment for real.
We have an appointment in a few weeks for a wheelchair evaluation. He doesn't need one full time by any means, but it would be nice to have one for when we go places. We met up with a bunch of families (I don't think I posted about that?) about a month ago with boys all around the same age as Seth, and everyone had something, whether a chair, or a big stroller type thing, or a scooter to use for that purpose. Plus, our insurance only will cover DME every three years, so it's a good time to get something right now. It will be just a regular wheelchair but will have power assist wheels-so he can push the wheels and they have motors in them that give him more force. It will be nice to have, but it's still a big step that I'm not sure I'm ready for.
I think that's about it...school is going well for both kids, they've started their faith formation (previously known as catechism) classes for the year...Anna is excited because her friend Maddie is in her class, so that's fun-they go to different schools this year so don't get to see each other much. I will try to keep this more updated with regular day to day stuff. I was talking to this other family about how the course of this disease is not such that things change super fast (well, too fast for my taste, but you know what I mean). He's usually going to be about the same from one week to the next, so there aren't always a lot of updates to be had with regards to his health...so I will try to post other things. :)
Thursday, August 19, 2010
The cast is off!
It was just really bothering me that they were leaving the cast on, so I called and left a message for the PA. She called me back that evening and explained why she did it, but said if I really wanted it off, we could come in and she'd take it off and see if he was tender anywhere. She was nice enough to squeeze us in before his bone density test today, so we headed in and they took it off and he wasn't tender, so she said he could just do a boot for the next 2-3 weeks. He can take it off for swimming/bathing/stretching/etc., so that's nice for sure. Maybe he doesn't even need it, but I was willing to compromise. :) So it probably isn't fractured, but he did something to it, so I guess I'm fine with keeping it supported for a few weeks.
Tuesday, August 17, 2010
3 more weeks...
Saw ortho today-they did another x-ray that still did not show a fracture, but "just to be safe," they want to leave the cast on for three more weeks. Which is frustrating. I didn't want to make a big deal out of it, because I'm sure they are doing what they think is best, but is it really best to leave him in a cast for three more weeks when his muscles aren't like other kids, especially if there's not really anything wrong? I thought of questions after we left-at that point I had listened to the kids fight for the last 1 1/2 hours and my brain was fried (this is why I prefer for Anna not to come to these appointments...) Like-the doctor said at his last visit that IF it were fractured they would be able to tell on the x-rays they were taking today. The PA we saw today said the bones were all aligned properly and they still did not see a fracture (bony reaction or otherwise). So...why do we still need the cast? They are going to x-ray it again in three weeks, so what that tells me is that there is still a chance (albeit small) that it IS a fracture. SO why did the doctor last week tell me we'd know for sure by today?? Maybe he didn't actually tell me that, but it was definitely implied.
Anyway. I should be grateful that he's still able to walk on it and is getting around fine. I'm just a little nervous what his ankle will be like when the cast comes off. He's compensating when he walks, so I'm afraid once it's off, he will have a bit of a hard time getting back to walking normally. And by then, school will be back in session...I just have to take things one step at a time, I know that, but it just seems like a lot of extra grief when there's probably not even anything wrong. And I WOULD rather be safe, but I am just sick of cast life!!!
Anyway. I should be grateful that he's still able to walk on it and is getting around fine. I'm just a little nervous what his ankle will be like when the cast comes off. He's compensating when he walks, so I'm afraid once it's off, he will have a bit of a hard time getting back to walking normally. And by then, school will be back in session...I just have to take things one step at a time, I know that, but it just seems like a lot of extra grief when there's probably not even anything wrong. And I WOULD rather be safe, but I am just sick of cast life!!!
Sunday, August 15, 2010
Buddies
Here's a picture of Seth and Romeo...and Seth's cast, since he wouldn't let me take a picture of that just for that. Seth loves the dog-he likes to lay on the floor and let Romeo sniff and lick him all over his face. He just lays there and cracks up. He also likes to make the dog (and also me) crazy by doing various things to get him wound up. Then he gets TOO wound up and jumps on Seth or something...you'd think the kid would learn, but apparently it's JUST.TOO.FUN.
Also-notice Romeo's ears? That one is always going all wonky. It will either stick straight up, or stick out like in the picture, or sometimes even lay across the top of his head sideways. I want to pin it down or something so he's not all funny looking.
Therapy frustration
I have not always been thrilled with the rehabilitation program we use for Seth. Or I should say, we are forced to use for Seth, because it's pretty much the only one in town that treats kids with DMD, and the only one in town that has an aqua therapy component. First there was the whole head gash thing, then that therapist and another one left around the same time, so they had no dedicated peds therapists so he had a parade of about three different ones (one of which must not work with little boys at ALL, she seemed to be at a loss as to how to keep him on task and interested). I really do like the one they have now, but they are still not sure if she's going to be staying on full time into the fall or not...so there's all of that.
Friday, I got a call from Seth's aqua therapist. She really is great, Seth loves her, she can keep him interested for the whole hour session, she really knows her stuff....yeah, so she's quitting. She's going to a land based therapy office-I didn't ask if she would see peds there or not, but they don't do aqua, so...not that it matters, since apparently they don't have anybody to take her place at the pool yet.
I understand people leave, but it seems like MORE people leave from this particular place. I have heard it's because they don't treat their therapists that well-make them see too many patients, too much paperwork, I'm sure they can get paid better at private institutions...and they don't have any plan in place whatsoever if somebody DOES decide to leave, so it's a big scramble. It all frustrates me greatly. So for now I guess he'll just do land therapy...I am going to look into Mary Free Bed in Grand Rapids-maybe, hopefully, they do late afternoon appointments so I wouldn't have to take him out of school really early, because it's about a half hour away on a good weather, good traffic day. We'll just have to see what happens, I suppose.
Friday, I got a call from Seth's aqua therapist. She really is great, Seth loves her, she can keep him interested for the whole hour session, she really knows her stuff....yeah, so she's quitting. She's going to a land based therapy office-I didn't ask if she would see peds there or not, but they don't do aqua, so...not that it matters, since apparently they don't have anybody to take her place at the pool yet.
I understand people leave, but it seems like MORE people leave from this particular place. I have heard it's because they don't treat their therapists that well-make them see too many patients, too much paperwork, I'm sure they can get paid better at private institutions...and they don't have any plan in place whatsoever if somebody DOES decide to leave, so it's a big scramble. It all frustrates me greatly. So for now I guess he'll just do land therapy...I am going to look into Mary Free Bed in Grand Rapids-maybe, hopefully, they do late afternoon appointments so I wouldn't have to take him out of school really early, because it's about a half hour away on a good weather, good traffic day. We'll just have to see what happens, I suppose.
Sunday, August 08, 2010
Cardio and a cast
Seth had his yearly check with the cardiologist (who, I don't know if I mentioned this last year, I LOVE. He is awesome. Good doctor, great bedside manner) and everything looked good-same as last year pretty much. They do an EKG and then an echo and he listens to his heart. It looked good enough that he said we could wait two years to come back! So that's good news. His blood pressure is a little high, but it always has run on the high side. I think we'll just see what it looks like at his physical in a couple weeks and talk to his doctor about it then.
The cast...ugh. He fell (well, some kid pushed him) at day care on Tuesday and his foot/ankle/heel was hurting. It didn't sound too terrible, so I didn't go get him right away, but when I went to pick him up, he still hadn't walked on it (about four hours later) and wouldn't, so I took him to ER. They did an x-ray, which looked normal, but he still wouldn't put any weight on it, so to be safe, the doctor put him in a splint and told us to follow up with ortho in a few days. We went to see them on Friday...they looked at the x-ray and said it looked fine, but if there was a fracture in the growth plate, it wouldn't show up on the x-ray until it started to heal, at which point there would be a "bony reaction" that would be visible on an x-ray. The doctor thought that it probably was NOT a fracture, but since he couldn't know for sure, he had to cast it, because if he didn't and it ended up being a fracture, it would not be good. So the plan is, cast for 10 days, then x-ray, and then *hopefully* cast off and go on our merry way. We didn't talk about what we would do it if DID turn out to be a fracture...I figure I will worry about that if we need to. His next ortho appointment is next week Wednesday.
Overall, he's doing fine. They gave him a little shoe so he can walk on the cast. We also got him a walker...at first he wouldn't walk on it at all and he was worried, and I figured it couldn't hurt to keep him that much more stable. I am not sure he needs it as much as he thinks he does, but he thinks it's neat. He is definitely way more excited than we are about it, that's for sure. He also thought it was cool to ride in a wheelchair yesterday at the Air Zoo-again, way more excited about it than we were. Of course there is the worry that if he has to be in a longer term cast, he will have a hard time getting his range of motion back...a lot of boys end up their chairs because of this very thing-they have a fracture and that's it. I don't think that will be the case, though-he is walking on it and everything. We'll have to see what his physical therapist thinks once the cast is off. It's especially frustrating because at his last PT appointment, she was so excited because he had actually gained range in his ankles and legs, which is a huge accomplishment. We'll just have to see what happens, I guess.
The cast...ugh. He fell (well, some kid pushed him) at day care on Tuesday and his foot/ankle/heel was hurting. It didn't sound too terrible, so I didn't go get him right away, but when I went to pick him up, he still hadn't walked on it (about four hours later) and wouldn't, so I took him to ER. They did an x-ray, which looked normal, but he still wouldn't put any weight on it, so to be safe, the doctor put him in a splint and told us to follow up with ortho in a few days. We went to see them on Friday...they looked at the x-ray and said it looked fine, but if there was a fracture in the growth plate, it wouldn't show up on the x-ray until it started to heal, at which point there would be a "bony reaction" that would be visible on an x-ray. The doctor thought that it probably was NOT a fracture, but since he couldn't know for sure, he had to cast it, because if he didn't and it ended up being a fracture, it would not be good. So the plan is, cast for 10 days, then x-ray, and then *hopefully* cast off and go on our merry way. We didn't talk about what we would do it if DID turn out to be a fracture...I figure I will worry about that if we need to. His next ortho appointment is next week Wednesday.
Overall, he's doing fine. They gave him a little shoe so he can walk on the cast. We also got him a walker...at first he wouldn't walk on it at all and he was worried, and I figured it couldn't hurt to keep him that much more stable. I am not sure he needs it as much as he thinks he does, but he thinks it's neat. He is definitely way more excited than we are about it, that's for sure. He also thought it was cool to ride in a wheelchair yesterday at the Air Zoo-again, way more excited about it than we were. Of course there is the worry that if he has to be in a longer term cast, he will have a hard time getting his range of motion back...a lot of boys end up their chairs because of this very thing-they have a fracture and that's it. I don't think that will be the case, though-he is walking on it and everything. We'll have to see what his physical therapist thinks once the cast is off. It's especially frustrating because at his last PT appointment, she was so excited because he had actually gained range in his ankles and legs, which is a huge accomplishment. We'll just have to see what happens, I guess.
Tuesday, July 13, 2010
MDA clinic
Seth had MDA clinic with Dr. Chadehumbe today-he looks pretty good! I always feel like I should have more questions-other people probably have more questions? I just feel like right now he's doing fine and I have a pretty good handle on the stage he's in at the moment, so...she was pleased with his weight and height, which was an inch and a half up from the last time, which is pretty impressive! So, so far, two of the big side effects of the deflazacort, growth stunting and weight gain, don't seem to be a problem-it helps that he's still pretty active. It still seems like he is way shorter than other kids his age, but I've always thought that. He's just below the 50th percentile for height. I think kids around here just tend to be huge-all that Dutch heritage, maybe? :)
We also talked briefly about the PTC124/Ataluren-she didn't really have much to add, but it almost seemed like she was less optimistic than Pat Furlong about the timetable and when non-study boys could get it. Have I mentioned how frustrating the whole thing is??? GIVE ME THE ATALUREN! NOW!!!!!! Sorry. I am really, really trying to embrace the one day at a time philosophy so I don't start getting too anxious. Dr. C thinks the medication works, too, though, which sounds like the general consensus in the community. We did see a boy who we met at the telethon last year who was in the study-I remember his dad saying they were encouraged by his progress while taking the med. He is 12 and not yet in a chair full time-he did look like he was slowing down quite a bit, but still getting around, so that's encouraging as well. It makes me feel like maybe if Ataluren doesn't get approved for another year or two, it might still be ok.
At the end of the visit the MDA lady came in and talked about camp AGAIN. She wasn't so excited this time, probably because it just ended for this year. I think that maybe Seth should go next year. It does look fun. We'll see, I suppose.
We also talked briefly about the PTC124/Ataluren-she didn't really have much to add, but it almost seemed like she was less optimistic than Pat Furlong about the timetable and when non-study boys could get it. Have I mentioned how frustrating the whole thing is??? GIVE ME THE ATALUREN! NOW!!!!!! Sorry. I am really, really trying to embrace the one day at a time philosophy so I don't start getting too anxious. Dr. C thinks the medication works, too, though, which sounds like the general consensus in the community. We did see a boy who we met at the telethon last year who was in the study-I remember his dad saying they were encouraged by his progress while taking the med. He is 12 and not yet in a chair full time-he did look like he was slowing down quite a bit, but still getting around, so that's encouraging as well. It makes me feel like maybe if Ataluren doesn't get approved for another year or two, it might still be ok.
At the end of the visit the MDA lady came in and talked about camp AGAIN. She wasn't so excited this time, probably because it just ended for this year. I think that maybe Seth should go next year. It does look fun. We'll see, I suppose.
Thursday, July 01, 2010
Eclipsing MD
This week I had the opportunity to help out at a fundraiser for Parent Project MD. Anessa, a woman who lives in Grand Rapids whose 11 year old son has Duchenne, knows the Loeks family who owns Celebration Cinemas, and worked it out so that the West Michigan premiere of the new Twilight movie would be a fundraiser for PPMD. I wasn't even planning on going, really, but another woman who was working with Anessa asked if I could come help. And even though it was SO out of my comfort zone (meeting people I don't know, going by myself), I went, and I'm glad I did.
When I first got there, I couldn't find the woman who asked me to come so some people just shoved me somewhere, and then when I did find her she had me cut some cake...I don't think she really even needed me, but maybe she just wanted me to meet some people? I don't know. But I did meet some people, most amazingly, Pat Furlong, the woman who founded PPMD. I got her story-her two sons were diagnosed in 1984, and at that time they didn't do anything for DMD boys. She didn't like that, so she borrowed $100,000, went all over the place and just got a bunch of things going, basically (obviously there's more to the story than that). Her boys died in the mid 90s, but she's still very involved in the cause. A lot of what's going on today is because of this one woman. It was awesome to meet her.
I also asked her about Ataluren...she has worked very closely with the company and she told me very encouraging things-that she really thinks the drug works, and although Seth wasn't in the trial and won't be able to have access right away, she believes it will come "soon" (I put that in quotes, because unless it's tomorrow, it's not soon enough for me, but compared to any other treatments, it's pretty soon). I really hate to get my hopes up, but, well...I have. They are just working through the steps they need to take for the regulatory path-to get this thing approved so we can drive our little car to the pharmacy and give them our little insurance card and they will give us the medicine.
The whole event ended up raising $136,000, which is amazing. I am just in awe that somebody can even pull something like that together! I think I'm more of a helper than a planner. I don't even have the first idea how to start, let alone having those kinds of connections! But I know every little bit helps. (speaking of-if you're so motivated, you can follow one of my links to the right and donate...the MDA is a great organization in a lot of ways, but PPMD is focused on Duchenne and Becker MD only, so donations to that organization are more likely to benefit boys like Seth, whereas the MDA supports a wide range of neuromuscular diseases).
I also got to meet a couple of other families. It's just nice to talk to people who know exactly what you're going through. Like I said, even though I was way out of my element, I'm glad I went.
When I first got there, I couldn't find the woman who asked me to come so some people just shoved me somewhere, and then when I did find her she had me cut some cake...I don't think she really even needed me, but maybe she just wanted me to meet some people? I don't know. But I did meet some people, most amazingly, Pat Furlong, the woman who founded PPMD. I got her story-her two sons were diagnosed in 1984, and at that time they didn't do anything for DMD boys. She didn't like that, so she borrowed $100,000, went all over the place and just got a bunch of things going, basically (obviously there's more to the story than that). Her boys died in the mid 90s, but she's still very involved in the cause. A lot of what's going on today is because of this one woman. It was awesome to meet her.
I also asked her about Ataluren...she has worked very closely with the company and she told me very encouraging things-that she really thinks the drug works, and although Seth wasn't in the trial and won't be able to have access right away, she believes it will come "soon" (I put that in quotes, because unless it's tomorrow, it's not soon enough for me, but compared to any other treatments, it's pretty soon). I really hate to get my hopes up, but, well...I have. They are just working through the steps they need to take for the regulatory path-to get this thing approved so we can drive our little car to the pharmacy and give them our little insurance card and they will give us the medicine.
The whole event ended up raising $136,000, which is amazing. I am just in awe that somebody can even pull something like that together! I think I'm more of a helper than a planner. I don't even have the first idea how to start, let alone having those kinds of connections! But I know every little bit helps. (speaking of-if you're so motivated, you can follow one of my links to the right and donate...the MDA is a great organization in a lot of ways, but PPMD is focused on Duchenne and Becker MD only, so donations to that organization are more likely to benefit boys like Seth, whereas the MDA supports a wide range of neuromuscular diseases).
I also got to meet a couple of other families. It's just nice to talk to people who know exactly what you're going through. Like I said, even though I was way out of my element, I'm glad I went.
Sunday, June 20, 2010
One year
The anniversary of Seth's diagnosis was about two weeks ago...I meant to do some big profound post, but the only thing I could think of was, "it sucks." Because really-that's all there is to it. I try to stay positive and hopeful about new treatments coming down the line, but when I'm starting to see little signs of weakening and decline, it definitely jerks me out of the happy place. If this medication doesn't get approved within the next six months to a year...he'll probably still benefit, but I just would like to start slowing things down right now.
A strange thing-in the space of two days I met two families with older boys with DMD, one of which lives on our street. I had heard that there was a new third grade teacher at Seth's school (not new, just moved from another one) who has a teenage son with DMD. There is a family that moved in maybe two summers ago that I knew had a boy in a wheelchair, and after Seth's diagnosis, I wondered if he did have DMD, but didn't see him much. I saw him last week and thought for sure he did, so later his mom was out and I went and talked to her and it's the new teacher! She is a very positive person-she said that of course she gets mad and discouraged, but she just keeps telling her son that there is going to be a treatment, a cure, and he is going to get out of that chair! I admire that-I don't know if I'd already have to feel like that, or if it will come later...I want to be positive. But at the same time, I want to be a realist because at some point reality is going to slap you in the face no matter how positive you are...I guess it's all a matter of how you deal with the reality. And I would never be one to think that somebody isn't dealing with it the *right* way, because everybody experiences it differently.
Ok, so then two days (or was it even the next day?) later I was with the kids at an ice cream place and a van pulled up and I could see that there was somebody in a wheelchair in there, and when I looked closer I saw another one and then I thought to myself, "no way." But sure enough, the boys got out and I was pretty sure they had DMD too! While the mom was putting the van back together, I went and talked to her (honestly, I would never do this normally-I don't generally go up to complete strangers!). Her sons are 15 and 20, and she said the younger one was in a chair by 9, and the other one walked till he was 12-and he definitely looked better even though he was older. She said Seth looked pretty good and that her younger son was already really weak by Seth's age, so I guess that's somewhat encouraging. What WASN'T encouraging was what the older one said when he found out Seth had DMD. He said, "I feel sorry for your son." Okaaaay. Nothing like putting it all out there, right? Anyway, we didn't talk too terribly long, but she took my phone number, so hopefully she'll call. They live in Hudsonville, which makes it even stranger that we were at the same place at the same time...perhaps coincidence, perhaps not.
So. That's my big one year post. It has been a hard year, but at the same time you do get to a new normal and there are always every day things that need to be done, and the kids are still fun and frustrating at times and everything every other kid is, and life goes on, even when I just want to put the brakes on it for five seconds.
A strange thing-in the space of two days I met two families with older boys with DMD, one of which lives on our street. I had heard that there was a new third grade teacher at Seth's school (not new, just moved from another one) who has a teenage son with DMD. There is a family that moved in maybe two summers ago that I knew had a boy in a wheelchair, and after Seth's diagnosis, I wondered if he did have DMD, but didn't see him much. I saw him last week and thought for sure he did, so later his mom was out and I went and talked to her and it's the new teacher! She is a very positive person-she said that of course she gets mad and discouraged, but she just keeps telling her son that there is going to be a treatment, a cure, and he is going to get out of that chair! I admire that-I don't know if I'd already have to feel like that, or if it will come later...I want to be positive. But at the same time, I want to be a realist because at some point reality is going to slap you in the face no matter how positive you are...I guess it's all a matter of how you deal with the reality. And I would never be one to think that somebody isn't dealing with it the *right* way, because everybody experiences it differently.
Ok, so then two days (or was it even the next day?) later I was with the kids at an ice cream place and a van pulled up and I could see that there was somebody in a wheelchair in there, and when I looked closer I saw another one and then I thought to myself, "no way." But sure enough, the boys got out and I was pretty sure they had DMD too! While the mom was putting the van back together, I went and talked to her (honestly, I would never do this normally-I don't generally go up to complete strangers!). Her sons are 15 and 20, and she said the younger one was in a chair by 9, and the other one walked till he was 12-and he definitely looked better even though he was older. She said Seth looked pretty good and that her younger son was already really weak by Seth's age, so I guess that's somewhat encouraging. What WASN'T encouraging was what the older one said when he found out Seth had DMD. He said, "I feel sorry for your son." Okaaaay. Nothing like putting it all out there, right? Anyway, we didn't talk too terribly long, but she took my phone number, so hopefully she'll call. They live in Hudsonville, which makes it even stranger that we were at the same place at the same time...perhaps coincidence, perhaps not.
So. That's my big one year post. It has been a hard year, but at the same time you do get to a new normal and there are always every day things that need to be done, and the kids are still fun and frustrating at times and everything every other kid is, and life goes on, even when I just want to put the brakes on it for five seconds.
Friday, June 04, 2010
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.
Monday, May 31, 2010
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 oldHe'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.
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.
Thursday, May 13, 2010
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.
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.
Wednesday, April 21, 2010
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.
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.
Wednesday, March 10, 2010
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.
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.
Monday, March 08, 2010
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.
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.
Thursday, March 04, 2010
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.
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.
Monday, March 01, 2010
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.
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.
Sunday, February 28, 2010
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. :)
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. :)
Friday, February 26, 2010
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.
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!)
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.
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.
Thursday, January 21, 2010
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!!!"
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!!!"
Thursday, January 14, 2010
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.
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.
Saturday, January 02, 2010
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