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We found out yesterday that we DO NOT have INAD ruled out and William is still a strong candidate for it, as his symptoms are clearly indicitive of such a disease. We received the report in the mail and it said that the PLA2G6 mutation was negative in the blood stream, but this neither confirms or denies the evidence of INAD. I spoke with his doctor who confirmed that this just means the test cannot exclude the diagnosis because there are several ways that INAD presents and that particular method of testing only tests for one of them. The recommendation is to have a retinal exam and a T2-weighted MRI to look for optic atrophy and cerebellar atrophy, which are strong corroborative features of INAD. He has already had the retinal exam, which shows indications of INAD. Our next step will either have to be the MRI, which involves another surgery, or a nerve biopsy. I guess we will be discussing these things at Mayo and we are also staying in touch with the geneticist to see what direction to go.
I found all of this information out after coming home from completing my own ERG. William's geneticist recommended that I have it done because if he does have RPGR, which is an x-linked disease that I would carry and pass down to him, my retina would show signs of being a carrier. We were very excited after this test because my ERG was perfect and my retina showed absolutely no signs of carrying a retinitis pigmentosa related disease. That pretty much rules out the RPGR, even without receiving the results back from Manchester. Then we got home and received the report in the mail. It seems the last 18 months has been a constant roller coaster of emotions like this from the time he first developed RSV/Pneumonia, to finding out that he is deaf, to surgery, to realizing there is much more to find out.
The ERG was strange. They put electrodes on my forehead, earlobe, and in my eyes. The ones they put in my eyes were hard little gold-plated contacts with protrusions.
Then they flashed different colored bright lights into my eyes to examine my retina and see how long it took for my cells to regenerate. This is obviously an over-simplification of the whole process, but you get the idea. It did not hurt, but it was uncomfortable. I got sick at the end, but I think that had more to do with being so uncomfortable AND pregnant.
Thanks for checking on William and keeping him in your prayers. We remain constantly concerned for our dear little boy.
"In my distress I called upon the LORD, and cried to my God: and he did hear my voice out of his temple, and my cry did enter into his ears." 2 Samuel 22:7