Friday, November 16, 2007

Another test down...

I took Nolan in for his EKG today. This has been the easiest test so far- I'd rather do fifty EKG's than one ABR! It took all of five minutes (total, including dressing and undressing him) and we were done. We won't know the results for a while, though I don't suspect they'll find the long QT syndrome. That generally occurs with severe or profound deafness, and Nolan's moderate loss would be unusual to see with Jervell-Lange-Neilson syndrome (and yes, I have been googling WAYYY too much).

The results are being forwarded to a pediatric cardiologist named Dr. Jingle. If I ever meet the man, I will be highly disappointed if he doesn't have a pointy hat and bells on his shoes. It would seem at least one of our doctors is themed for the season!


Christine Puricelli said...

That statement about Long QT Syndrome is just not true. Only a very small percentage of Long QT cases are associated with deafness. They now have a genetic test for Long QT, done by the Familion company.

My precious 22 year old daughter died in her sleep from Long QT Syndrome. If you have any questions you can E-mail me.

leahlefler said...

Long QT is more often found on its own, unrelated to deafness. Since my baby has hearing loss, however, they are looking for a specific syndrome called Jervell Lange-Nielson which is Long QT associated with Deafness. Kids with Jervell Lang-Nielson are generally severe-to-profound and since my baby is moderately impaired, this syndrome is unlikely. If they found long QT, it would most likely unrelated to his hearing loss level. I was writing about Jervell Lange-Nielson and not Long QT in general.