Jervell Lange Nielsen Syndrome - we have a diagnosis!

So sorry that my blog has been so abandoned.  :-) We have been very busy!  I will try to cram everything in that has happened in about 3 posts - get some caffeine!  As I have briefly shared on the blog in Landri's second CI surgery they discovered a heart condition called Long QT and put her on a beta blocker 3 times a day to help prevent her heart from going into a funky rhythm.  A super quick side story - we were able to discover this from a VERY determined nurse in Post Op that is really an angel to us. Anesthesiology told us it was nothing to worry about, but thanks to a very savvy and determined nurse that pulled us aside and told us that "if it were her child" she would have a Cardiologist see Landri yet that day since we had to spend the night from surgery and told us that even though the Dr. didn't recommend it that we as parents had the right to request it.  I only share this because I think it is always good to remind moms everywhere to trust your mommy instincts and advocate for your kids!  This 5 minute conversation from this very special nurse likely saved Landri's life......seriously...and possibly other lives in our family.  Following that day Landri and our family (the heart condition is genetic) went thru a series of tests.  Landri's have been completed and we are still waiting on some results from Greg's and mine.  Landri's came back that she has Jervell Lange Nielsen Syndrome which is a condition that combines deafness and Long QT Syndrome.  JLNS effects the potassium channels in Landri's body which are needed for hearing and a normal heartbeat.  The odds of having JLNS are about 1 in a million....literally.  We always knew Landri was special.  Please follow this link to learn more about Long QT  www.nhlbi.nih.gov/health/dci/Diseases/qt/qt_whatis.html     With JLNS you have two mutated genes of Long QT 1.  Since Landri has two mutated genes versus the typical one mutated gene associated with most Long QT patients she is at higher risk for an episode (fainting, seizure, sudden death).  Because of this her Cardiologist at the University of Iowa, Dr. Atkins whom we love, recommended that Landri have a unique procedure called a left sympathectomy (there is a more detailed name for the procedure, but the exact name escapes me).  :-)  Since they had never performed this procedure at the University of Iowa (I told you this is a RARE condition!)  we agreed that the surgery should be performed at the Mayo Clinic under the care of Dr. Ackerman and Dr. Moir, whom we also totally love!  They had done the procedure about 17 times on children.  We spent 5 days up at Mayo and Landri came thru the surgery like a champ!!  Basically they removed 4 nerve centers on Landri's left side that cause your body to sweat, feel anxious, heart to raise, etc when under stress or very emotional in the hopes of preventing Landri's heart from going into an unrecoverable funky rhythm.  Dr. Moir did a fabulous job.  This is a very precise procedure and Landri was in great hands!  There is a common side effect with the procedure of a droopy eyelid and thanks to Dr. Moir Landri still has a perfect lid! :-)  Since Landri had the procedure she no longer sweats on the left side of her body...ever.  That took a bit getting used to.  One hand is always clammy and the other is always dry.  When she sweats at nap time there is this distinct line down the back of her head....one side drenched in sweat and the other bone dry.  :-)  Small trade off to keep her safer and will likely be a cool trick at college parties some day.  Landri still needs to be on the beta blockers 3 times a day and she will be on them for life.  They will do an EKG on Landri about every 6 months and then as long as she remains episode free we are on cruise control until Landri gets bigger and closer to puberty which is the highest risk time for her.  At that time her Cardiologist here and her Cardiologist at Mayo will decide if she will need an Implantable Defribillator to reduce her odds even more of having a sudden death episode.  We will cross that bridge when we get there!  Here is a link about Jervell Lange Nielsen Syndrome......the stats are scary....again...the nurse in Post Op was an ANGEL!  http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=jln  Quickly....on the rest of the fam....Greg's EKG was normal but he is still a carrier of the Long QT gene in order for Landri to have JLNS....my EKG was similar to Landri's and they put me on beta blockers as well....Halle's EKG was normal....praise God.  Still waiting for more test results and will then continue to dig into both sides of our families to determine whom else is at risk.  Thanks to everyone for their support and for those that donated to Halle's Jump Rope for Heart!  She raised $642 for the American Heart Association and we could not be more proud.