Latest Activity: Jul 5, 2016
Started by John Smith. Last reply by John Smith Jan 26, 2012.
Started by John Smith. Last reply by Chad Studebaker Sep 2, 2011.
Started by Chad Studebaker. Last reply by John Smith Dec 13, 2010.
Hi Amelia, yes I understand so. My son's DNA test mentioned his mutation is nonsense (stop codon) mutation in exon 16. And he is in Translarna (Ataluren) trial.
Is stop codon the same as nonsense mutation?
ATALUREN :any parent out there who can provide an update on how their son is doing on Ataluren , for those of us who are waiting?
Hi Ruth I do, lewis is also 6, i started low , 300mg a day and have gradually moved up to 500mg. I think it helps, particuluarly with his speech, and energy .When i ran out , Lewis was without idebenone for 2 weeks as i get it shipped from the states. After about a week without it his speech impediment came back and he was not as energetic. He is now back on it and after about 2 weeks his speech has improved and he is so full of energy.Again that could have happened for another reason too.It is not harming him and in absence of all else it is worth giving to our boys.
Good morning!! Does anyone out there give Idebenone to their stop codon boy?? And has it been of any benefit?? We are planning to start our son Leo age 6 on Idebenone in the next few weeks. I'll let you know how we get on. Ruth
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