We just got back from the neurologists office where we got the DNA test results back. This is the test done at Athena Diagnostics and it did not shed any light on the subject at all. The results came back as - "This analysis did not detect any deletion/duplication nor any abnormal DNA sequence variants in this individual's DMD gene." So after 3 DNA tests and a muscle biopsy all we know is that there was very little dystrophin found in his muscle sample. None of this changes anything, so maybe we aren't supposed to know or maybe there is another test, another researcher out there with answers.

On the upside she took him off the Zonegran, so he is now taking only one anti-seizure medication. She also changed the setting on his Vagal Nerve Stimulator (think pacemaker for the brain). So there was some good news. At one point he was taking 3 different anti-seizure meds for a total of 13 pills a day, now he just has one med with only 3 pills a day. He has been seizure free for about 2 1/2 years now!

Have a great day!
Susan

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Comment by Jacobs Mommom on October 9, 2009 at 10:56am
I wish I had some insight for you but just know that I feel for you and that I'm really glad that your son's medication has been decreased.
Comment by Susan Rathfelder on October 8, 2009 at 9:20pm
I will look into that. It is so nice to have the meds way down, you can tell the difference in him. He is more alert, not so groggy. Of course not having seizures has been great!
Comment by cheryl cliff on October 8, 2009 at 8:52pm
Wow! I am having a seizure just reading abougt all his meds!!!
On your other subject I remember seeing there was a recent report by a Prosensa scientist who said there will be a small percent of dmd cases where no mutation can be found by DNA testing. Look for G. Scheuerbrantd's latest report. Or, he can be reached at gscheuerbrandt@t-online.de for further info.

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