Ataluren
Replies to This Discussion
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Permalink Reply by Donna on
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I would be inclined to say yes it does - in our case - we think. However, having said that, you should also know that our son was diagnosed a couple weeks after his 5th birthday. Ataluren was getting towards the end of recruitment so we had to decide 1. if we wanted to be in the trial, and if so 2. do we start steriods or not do steriods? We ended up enrolling in the ataluren study and we started our son on deflazacort immediately. So he went on steriods immediately and then on ataluren 6 months later. The only symptoms our son had at the time (to us anyhow) was the toe walking, and then the resulting ck levels and dna testing. He is now 11 and the typical response at his semi annual appointments with his neuro-muscular pediatrician is simply - wow, he's doing really well. The problem with that is we do not know if it is the steriods, the ataluren, or just nature that was going to allow him to do well. He is just under the growth chart for his height and at this age, it is becoming very apparent. He wants to switch to weekends only steriods in the hopes of gaining some inches - so we are sitting here wondering what is keeping him doing so well - will moving the steriods change his progression, or has it been the ataluren, or simply nature?
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Permalink Reply by Angela Bourgeois on
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Thanks for your reply. Your situation sounds very familiar. Our son is 15 and we did decide to go on the weekend dosing, that is until I saw what I believed to be a significant decline when we were on vacation and I put him immediately back on daily dosing. He did grow some though. Weekend dosing is a bit tricky at first. He had withdrawal and was sick on Wednesdays for the first few weeks. I was told it was coincident but I don't think so. He also had to take cortisol until his body started producing it again.
We also weren't sure what was nature and what was Ataluren or the steroids. We are still not sure- hence my question.
Thanks again and best of luck with your decision. It isn't an easy one.
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Permalink Reply by Trinh Nguyen on
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Hi ! My son is 10 and has been on Ataluren since 2013- phase 3. He was just put on extension phase since Sep. '14 ; open label (before Sep.'14, I do not know he was on placebo or not.) He's on daily Deflazacort. He's 1.24M height now and we want to consider Growth Hormone for him. Can you give us some idea ? Tks/Trinh
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Permalink Reply by Amelia on
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Are your sons still ambulatory? Im assuming they have the nonsense mutation and correct me if Im wrong cause I really have no idea. Just from reading I was thinking the nonsense mutations is the ones that had the clinical trial for ataluren. Again im new at all this and don't know a lot we go to the doctor next week for the first appointment , but I am pretty sure he has the nonsense mutation.
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Yes, Amelia. He's ambulatory and has nonsense mutation ; exon 16.
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Our son has a nonsense mutation. Exon 12. He is still ambulatory but has a power chair he uses at school. He has been off ataluren for a year now.
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Trinh Nguyen said:
i can't recall all the details as to why we made this decision but in the end we didn't use growth hormones. As much as I didn't like it when the doctors told me it was better for him to be small, they were right and it has made things easier as he is having problems getting out of chairs and things like that now, and being smaller and lighter makes it easier for him to move and for us.Hi ! My son is 10 and has been on Ataluren since 2013- phase 3. He was just put on extension phase since Sep. '14 ; open label (before Sep.'14, I do not know he was on placebo or not.) He's on daily Deflazacort. He's 1.24M height now and we want to consider Growth Hormone for him. Can you give us some idea ? Tks/Trinh
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Will the doctor tell me what Exon? All I have is codon position and nucleotide position, but the paper didn't say Exon.
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I can't recall how they all relate- it's been 11 years since our son's diagnosis. We met with a geneticist who explained everything to us at the time. You can ask for it all to be explained to you by either your son's neurologist or a genetics specialist.
Amelia said:Will the doctor tell me what Exon? All I have is codon position and nucleotide position, but the paper didn't say Exon.
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Im just being impatient, its been a long 3 months of not having an official diagnosis. I was just trying to see if I could find out anything last minute before our appointment next week, Im sure we will get all questions answered then some next week. Im glad to finally get some answers, but also nervous of what they are going to tell us.
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Of course you will be impatient, anxious, nervous, scared and all sorts of other emotions. I remember all of our first appointments in vivid detail. It is a lot to take in and it can and will be overwhelming, but as I sit hear listening to my son laughing in the next room, I can smile, which is something that was hard to do 11 years ago. It does get easier.
Angela
Amelia said:Im just being impatient, its been a long 3 months of not having an official diagnosis. I was just trying to see if I could find out anything last minute before our appointment next week, Im sure we will get all questions answered then some next week. Im glad to finally get some answers, but also nervous of what they are going to tell us.
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