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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?
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
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.
Yes, Amelia. He's ambulatory and has nonsense mutation ; exon 16.
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
Will the doctor tell me what Exon? All I have is codon position and nucleotide position, but the paper didn't say Exon.
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.
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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