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PN: From Anger to Acceptance

Neuropathy | Last Active: Aug 3 9:51pm | Replies (83)

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@njed

Deb - When I went to Johns Hopkins in Dec of 2022, I had asked about genetic testing relating to PN beyond CMT. I was told that I would need to have a minimum of 3 family members, including myself with evidence of PN in order to do genetic testing. I can't come up with one family member let alone three.
Ed

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Replies to "Deb - When I went to Johns Hopkins in Dec of 2022, I had asked about..."

Ed - Interesting. My Dad was questionable. He developed severe dementia in his early 60’s. One day he woke up and could no longer walk. His wife interpreted his living will to mean don’t do any tests or anything as long as he was comfortable, so he was shipped off to a nursing home to live out his remaining 5 years in bed. The doctors said he “may” have had a minor stroke, but they did no scans. His speech remained unaffected, only his legs were too weak and and PT and dimentia didn’t mesh. We weren’t happy that his wife (and doctor) had decided his dementia made him not worth saving (I’m still disturbed by that). My PN took 10 days from first sign of weakness to wheelchair at almost 52. Since my dementia hasn’t quite kicked in yet, my DNR hasn’t been invoked 😵‍💫

So we can only wonder about my Dad, but no other kin have displayed question marks, though I only had 1 grandparent live to be over 60, and I know little about my family tree above me. So I wonder if John’s Hopkins rules were stricter or if rules have changed? I will say I have to pay $150 for the testing that is not for CMT, so perhaps it’s the insurance rule?