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.
-
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!!!
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