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

Hearing Aids: A New Beginning

Katelyn got her hearing aids on April 6th. Many people have asked how she is doing. Overall, I would say she is doing well with the adjustment. Her instant reaction was silence. She stood silently in the Audiologists office and held my legs. Katelyn seemed in awe and quite perplexed by the new things she could hear. After about 30 minutes of exploration, she was blowing bubbles in the office. At one point, something fell off the chair behind her onto a carpeted floor. She heard it fall and turned around. This is how I knew they were working. 

As the day went on, there was a power struggle between Kate and I. She took her hearing aids off several times and had to be disciplined. This is the non-exciting part of the hearing aids. By the end of the day, they are painful. Similar to wearing new glasses or a headband, the skin spots become sore from the movement. After dinner, whenever her hearing aids came off (or were pulled off) she covered her ears with her hands to try and prevent me putting the aids back in.

The biggest misunderstanding is that although she is physically 2 years and 2 months old, her language development is that of a newborn. Words that have been spoken to her in the last two years have been muffled and distorted. What she knows as her name without her hearing aids, does not sound like "Kate" with her hearing aids. This brings us back to Day 1. Many years of speech therapy are ahead of us.

Other frustrations include the feedback noise when the hearing aids are bumped into. As Kate rubs her ears or jolts the hearing aid microphones around while playing, a horrible noise occurs. The noise sounds like a microphone when it is first turned on in a concert hall near a speaker. It's an extremely loud screech. This is also causing unhappiness and headaches for her.

We are still moving forward with sign language due to the fact that hearing aids cannot be used at the pool, in the bathtub, a water park, the ocean, etc. So far, tantrums have been the same in number. I am hopeful that as we all explore the new hearing world together, that she will begin to understand more each day and the tantrums will subside. Below is a photo of Kate with the hearing aids on. 

Please continue to keep her in your prayers!

New ears!

Life...

So again, life has gotten in the way of doing the "Sign a Day" project. My last day of work was this past Friday. That evening we packed up the car in a hurry to drive to Macon, Georgia. A ten hour car ride overnight with 4 children is always interesting. We spent 5 days visiting Eric's home town and helping his mother as she was released from the hospital after elbow surgery with complications. I also had the pleasure of a surprise visit from his brother, Jason. Lots of sightseeing, history lessons, and reminiscing of the past. Needless to say, this trip had left little time for blogging or surfing the internet. Now we are home, back to business as usual.

Today is the day Kate gets her hearing aides so keep your fingers crossed! Will update soon....