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Saturday, January 6

Genetic Testing Progress

It has been a bit of a struggle over the last week as I have been trying to secure the genetic testing I need to have run. With the results of Drew's genetic testing showing a mitochondrial abnormality, I need to find out if I have the same abnormality. By knowing this information, I will know my risk of aminoglycoside induced deafness, and I will know the potential risk that my daughter may carry this abnormality as well.

I could have the testing run through Cincinnati Children's, where Drew's was done, but they require an audiogram and I would have to drive to Cincinnati to have my blood drawn. So, I contacted my OB/GYN's office. I learned that their lab will run certain genetic tests, and fortunately this is one of the ones they perform. In addition, they contacted my insurance company for me and found that the testing is covered. They told me that I can expect the results in four to six weeks.

Pending the results of the test, others in my family may need to be tested. If I do not carry this abnormality, meaning that it is a new mutation in Drew, my daughter will be the only one tested for the mutation. It is possible, although unlikely, that she received the mutation and deafness will only ensue with aminoglycoside antibiotics. Because this mutation is generally passed to all children of an affected mother, knowing that I do carry the mutation will additionally require testing for my sister and mother, so we can determine their risks for deafness, as well as my sisters risk for passing this abnormality on to her children.

All of this genetic testing is a new road for us, and I am learning more about it everyday. I will let you know when we receive the results and what our next steps will be.

1 comment:

Sam said...

This is the most interesting topic I have read in all the cochlear implant blogs I have read. Keep up the good work and good luck to Drew!