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Hey Nick's Mommy.
This is pretty good news, but not a certainty like your doctor is explaining it to you. So I would hesitate to take your Drs advice based on this sole test, since it could be inaccurate and lead you to make bad decisions. (As far as I know there are no studies to support your doctors conclusions..ask for a copy so you can read it for yourself).
You need to trust your gut on this one...let me explain why....
If you had the testing done at Athena (you likely did...since there are very few other testing companies), you may not be getting the definitive truth you think you are...
My initial test results from Muscle biopsy stated 'Normal' amount and 'Normal' size of dystrophin protein. When the testing was repeated in a laboratory setting with more time and precision, it was found to be essentially normal size (too close to measure), but only 30% of the 'normal' amount. I wasn't diagnosed until I was 35 and my only symptom (unknown at the time) as a kid was large calves and leg cramps when playing competitive soccer. So having more than 30% might of normal size protein 'might' indicate that someone might be better off than I have been so far, which would be great.
However, the truth is that Athena is focused on gross screening looking for Duchenne...yes or no answers (ie no dystrophin or very small protein sizes) ...and does not do a good job with more subtle shades of grey like Beckers. Their results in Becker types might be misleading like they were for me.
I would suspect that your hunch is correct and that you should pursue additional testing to help you better understand the size and amount of dystrophin. Even after you get a second result, it can't tell you or your son what he can do and what he should avoid.
I think in the end this is good news, but I wouldn't put a lot of faith in it yet until the results are repeated from another lab. I can put you in contact with the folks that did my follow up testing if you want.
Kevin |
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K. Goodfellow |
