Answers...Finally...

On April 9th, Katelyn went to see Dr. Wilson who is a genetic doctor. We discussed possibilities of genetic causes for her hearing loss. He informed me that it was often the case that we will never find an answer after testing is exhausted so I should do what feels comfortable both for me as a person, and me financially.

That day, we decided to start with the "small" genetic test called Sound Gene. This testing process required a blood sample and took about 2 weeks to get the results. It analyzed her DNA for the most common reasons for hearing impairment among children.

Last Wednesday, April 18th, they called with the results. Katelyn has a genetic mutation that caused her hearing loss. The results say...

"Katelyn has two copies of a mutation that is denoted '35delG' in the GJB2 gene that alters a protein called connexin 26. This is associated with nonsyndromic hearing loss and deafness, DFNA3, which is characterized by childhood-onset, progressive, moderated-to-severe high-frequency sensorineural hearing impairment. Affected individuals have no other associated medical findings. Connexin 26 mutations are thought to be the most common genetic cause of hearing loss.

This form of hearing loss is inherited in an 'autosomal recessive' pattern, meaning that an individual with two copies of the mutation will have hearing loss. These results suggest that Katelyn probably inherited one copy of the mutation from you and one copy from her father, meaning that both of you are 'carriers'."

Basically, it was inherted as a recessive gene from both her father and I. Now we are both aware of being carriers. The only future concern would be if I were to have another pregnancy with another carrier (since clearly her biological father and I are not having other children together) there is a 25% chance of having another child with a hearing impairment.

For much more in-depth information see the following link: http://www.ncbi.nlm.nih.gov/books/NBK1536/

May 7th, we have a follow up appointment to discuss the results on more of a person level, rather than all the medical speak. I hope to more fully understand the abnormality and how it effects Katelyn's future personally as well as reproductive future. I am concerned that this makes her future children very high risk for being hearing impaired as well. However, this is out of my control and something I cannot (should not) be worried about.

Overall, I am quite pleased to finally have an answer. It was repeated in each previous doctor appointment that it was possible I would never know why she has a hearing loss. Although this answer doesn't change Katelyn's condition, it does give the adults, doctors, and caregivers in her life a sense of ease. There are no new symptoms to look out for. Anything else that may come along in her future will not be related to her hearing loss. She's just a little girl who inherited a set of recessive genes that caused her hearing to be severely impaired. It is what it is, and we are learning to make the most of it. She's still amazing, hearing or not hearing