PN: From Anger to Acceptance

Ray - I did a cheek swab last month as well and awaiting results. It was sent to a lab called Variantyx, as they can also do a genetic test for some that are ataxia related as well as CMT specific. I didn't ask for it, but my PCP offered it, so I thought - why not? If it helps discover anything that can help me my bloodline or research, I figure it's a good thing.

Absolutely I feel that way! Had to give up all of the group activities that I enjoyed so much because
I never knew if my feet/legs would be so painful that I could not participate-Tramadol still makes me a little loopy.

@dbeshears1
Thank you Debbie for the ataxia info. Illyas about it. I had a severe episode of ataxia probably caused by Dilantin years ago and was in the hospital, yes Ed, another potential side effect. I wonder if my frequent falling is related to ataxia.
Thanks again Debbie.
Jake

Jake - I'll be honest, since I've moved here, I was surprised to learn that the medical system I now use has a large (and growing) Genetics Department. I was first contacted to learn basic ancestry information. Then my cardio doctor hooked me into a cardiac genetics counselor, Then my PCP referred me to the Neuro genetics group. I guess it's like bloodwork - there has to be a reason to order it individually vs just testing every possible gene for clues, and there is a specialist for each medical specialty. I will say that the Cardio genetics result offered a good clue about my Idiopathic heart issue, but I haven't had a sibling take the test to see if they might have a marker. (though my understanding is that the way genes split, siblings aren't expected to be identical). I am in unfamiliar territory with genetics but am confident that 20 years from now, they'll probably know a lot about a baby before they're born.

Debbie – I can't recall the name of the lab to which my test was sent, but I should be hearing the results on Wednesday, 2/28, when I have my next follow-up with my neurodoc. – Ray

Ray, I totally agree with your comment about the pain. I've been told that with my PN, there is no medication to reduce symptoms. In the past, my primary offered to ship me off to PT but then I run across the scenario that if I don't improve in PT, the insurance will not pay. Ok Ed, you need to stand on one foot with eyes closed for 6 seconds. Really, I can't stand on 2 feet with eyes closed for 6 seconds. Yes, frustrating.

@jakedduck1 Jake - In your comment, something popped out at me. According to Mayo, I have axonal sensory motor both small and large fiber PN. At Mayo, they went into detail about how the axons are impacted. You are right, elimination of seizure control meds will not reverse the damage. How many meds have side effects! I just found out that montelukast can cause pins and needles in feet, legs and hands and in some cases, neuropathy. I've been on that for 20 years.
I guess we have to put up with side effects of meds to benefit in other areas. OLD Ed

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

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?

@njed
Hi Ed,
I never really answered your question about Dilantin treating neuropathy. I don't think the Dilantin is used much anymore for that purpose. Gabapentin and the carbamazepines, Tegratol & Carbatrol are much more common although I don't know anyone who has been on Carbamazepine although I take Carbatrol 1,000 mg a day. It certainly doesn't do anything for numbness, and I no longer have the pains, my condition worsened and the numbness took over because of more dying nerve gibers. I think seizure meds are wicked and it's all I can do to take them. On day I lost control and threw them across my kitchen, but I gathered them up and took them dirt all. Not bad for taking them for 57 years and only losing it once.
Do you ever have seizures anymore? My last round was Aug of 2019. I had 1 at home and 5 in the hospital.
Take care of yourself Ed,
Jake