After getting back home from all the excitement, I spent some time with Landon. Amy had said that Emma had a small bout of vomiting tonight. After Landon went to bed I peaked in to check on Emma and she sat straight up in her bed when she saw me! She has gotten real good at laying still and pretending like she is asleep so when we get to her crib she just stands up. I rocked her in the glider for a while. She kept giving kisses. She knows that her daddy is a sucker for her acting so cute so of course I brought her out to the living room and the "Emma show" was on! But mommy was not so happy when the Emmers spilled her daddy's tea. Needless to say, she had to go back to bed to get rested up for Suzy's (the local school district educator for the deaf) weekly visit.

Thursday, July 8, 2004-GENETIC TEST RESULTS BACK: Today we received Emma's Genetic test results back from Dr. John Grienwald at Cincinnati Children's Center for Hearing and Deafness Research. It was pretty much what we expected which is actually good news considering it gives us more answers. The tests showed that Emma "was found to have two Pendrin alleles that are abnormal." Essentially Emma tested positive for Pendred's Syndrome. Given that there is a strong genetic link between Pendred's and Enlarged Vestibular Aqueduct (Emma's specific inner ear physical abnormality), we were not surprised. The report recommends regular thyroid testing. The only implication of this is that Emma could develop some thyroid issues later in life. She would simply take synthroid for that condition. So the implication is really nothing more than a life-long nuisance. It does not change her hearing loss. One thing that did surprise us was that they said that only one-third see slight progression in their hearing loss limited to only an average of 15 dB for any one frequency. However, I have spoken with others in the field that say it is unlikely for someone to have Pendred's and be hearing. If you do a search on Pendred's, you will find very little information. Harrison's Principles of Internal Medicine textbook (considered a Med School standard) has one reference in over 2000 pages and it does not give specifics of the disease. I have met endocrinology fellows that did not know what it was. So apparently it is rare but it is thought to cause up to 10% of all "unknown" causes of deafness. If you find any information on Pendred's that you think we may not have seen, please email it to us.