Genetic Testing Results

We got the results back from genetic testing, but unfortunately, they did not yield any answers. Here's what the tests had to say:    (basically, there's a variance on their genes but since Dad isn't deaf or blind, there's no way to determine how this came about.)

Both Brayden and Mr. Nelson carry the change in the WFS1 gene that we found in Bryce. However, since Mr. Nelson does not have hearing loss and optic atrophy like Brayden and Bryce, the lab has changed their interpretation of this result to this:

 “In summary, a conclusive interpretation of the role of the WFS1 variant in this individual and his sibling’s hearing loss and optic atrophy is not possible at this time; however, the available data suggests that this variant is unrelated to their clinical features.”

 Therefore, unfortunately, we do not have a definitive answer for your family. Dr. C*** has offered to meet with you in person to detail the results of all of the testing so far, or we can continue on to try and get insurance to approve whole exome sequencing (WES) to see if there could be any changes in genes we haven’t looked at yet that could explain the hearing loss and optic atrophy.

 WES looks at the important part of all of the genes known to be associated with disease in the genome. The laboratories that do this testing quote a “solve” rate of about 25%, meaning that of all the children with medical problems that have this test, we find an answer for about 25% of them (this means that 75% of cases are left unsolved). However, since Bryce has already had comprehensive testing for mitochondrial diseases and hearing loss genes and were unable to find an answer, I think the likelihood of us finding an answer based on WES is lower than 25%.  The option to proceed with WES or defer to a later time is up to your family. If you elect to defer additional testing to a later date, it is possible additional genes could be discovered in the future that would help “solve” your case. If you elect to proceed with WES at this time, it will require pre-determination through your insurance.

I'm not a scientist, biologist, or geneticist but I feel like there was a genetic weakness that woke up. What woke it up? Who knows. I'm sure some would say it was immunizations. Others maybe GMOs. We may never really know. I am leery of processed foods and the role they could have played. The geneticist (before we even started testing) gave his two scents about gluten and food and how he didn't believe it impacted genetic issues. I disagree with him and believe there was a trigger. It's not something we can undo. We were hoping to find some information to maybe help us in the future but, like many others with neuropathy, testing is a dead end.