Test Results

We finally got a call from the genetics clinic regarding Harper's Pendred Syndrome test. The test came back as normal. However, the counselor told me that this doesn't mean that Harper doesn't have Pendred Syndrome; it just means that this test came back negative. She has been in contact with Dr. Richard Smith at the University of Iowa which is always ranked nationally in the top 3 in otolaryngology. He said that in the next 1-2 years that there will be several more tests available that may be more conclusive targeting different chromosomes. The counselor told me that as of now Harper's diagnosis is still large vestibular aqueducts with hearing loss.