Sunday, October 11, 2009

Genetics Testing and Speech Therapy - September 15, 2009 (Ella Marie 4 1/2 months old)

Ella Marie, Connie, and I arrived at UAB at 8am to meet with Dr. Nathaniel Robin. He is one of the leading researchers in genetics with hearing impairments. First we met with Katie his Genetics Counselor. She just asked me a lot of background information about both sides of our family. Since there is no known hearing loss on either side Dr. Robin suggested that we get Ella Marie's blood drawn at Children's Hospital and he would have it sent off to check first for the connexin 26 gene. 1/31 people carry this gene. Ella Marie was the only one that had a blood test done because if it is present in her then that means that both Ryan and I have that gene present. She could only receive it if we are both carriers of it. The goal of genetics testing is to determine the cause of the hearing loss. We should hear back from this test in 6-8 weeks. If it is not connexin 26 more blood tests will be conducted in the future.

At speech we reviewed many things that we have already been doing. Below is what we focused on:

  • We should say everything that we are doing before we do it. For example "Ella Marie, I am going to make your toy go pop pop pop (then push the button that makes all of the balls pop up and down in it).
  • Continuing our work with suprasegmentals we discussed how useful a slinky can be when working. The slinky can go up and down, it can bounce, wiggle, and go round and round. As always we want to show Ella Marie these objects while changing our pitch when talking to her.
  • We talked about using the bumbo seat some for therapy. We have one at home but we still need to get a tray for it. We can play with more items that are within Ella Marie's reach with it. We can get a ball and throw it up and then make it bounce, bounce, bounce (working on suprasegemental long and short sounds).
  • We tried to see if Ella Marie would turn to different noisemaker sounds while she was sitting in the bumbo. She was very inconsistent in her ability to turn to sound. We did not get very much from her.
  • Kelli said to contine encouraging Ella Marie to engage in vocal turn taking. This is where we mimic what each other says.
  • We looked at an audiogram chart. We looked at a typical audiogram for a child who is a cochlear implant candidate and they do not hear in the "speech banana."
  • In order to develop proper speech, you can see where the sounds of the alphabet are. Initially, from the ABR, without hearing aids, Ella Marie was not responding at 90 decibels at any frequency level. The decibels are listed on the right side and the frequencies are listed across the top. Most hearing impaired children hear better in the lower tones (the left side across the top) than the higher sounds. An ABR alone does not qualify a child for cochlear implants. Behavioral testing that starts at around six months old must confirm that the child does not have enough hearing that can just be amplified.


  1. hang on to that sample audiogram of familiar'll need it in the future to show teachers, caregivers, etc. how sometimes she might miss similar sounds (example m confused w/n) since they are close in frequency, I used to use this a lot!! It really helped those who may not be that familiar actually see what you are talking about.

  2. Thanks Val. I have already shown it to people that I work with. I teach in the education department at our local university and I have shared it with some of the special education professors.

  3. Val I am getting my blog updated so you can showcase again.