Originally Posted by LouLou1978

Hi,

Just to update you, my sister and I are getting ready for our appointment at Oxford UK to see another professor in SFN who deals with genetics. We are there for 2 days while we have a number of blood tests looking for variants and full blood screen again. We have had SCN9a & 10 already which came back negative.


My biopsy showed an increase in nerve fibers, whereas my sister's showed a loss of nerve fibers but did show that fibers were re-generating.

I've today seen my local neurologist who feels this is genetic. My sister and I have no family history of SFN. This started for both of us within months of each other in December 2012. However, my 5 year old son has had complaints of bugs crawling all over him and feeling itchy. I am still trying to understand the genetics, as I thought genetic SFN would be passed to a child in an autosomal dominant inheritance. My father or mother have never had any complaints of SFN, nor my grandparents or great aunts and uncles or aunts or uncles. Its just me and my sister, so im presuming it can't be a sporadic thing as we both wouldn't have it.

Professor i spoke to said it could have been a virus, or autoimmune. Its so confusing, as one says yes it must be genetic if sister has it, then the other says well its not in keeping with genetic channelopathies as you don't get increased fibers with that. He then went on to suggest is in keeping with autoimmune, which IVIG has been suggested.

Does anybody have any clue. Hoping i can come back from Oxford with some answers!

Lou Lou

Originally Posted by Healthgirl

I am trying to remember, did you and your sister live in the same place or visit with each other very frequently when the sfn came on?[/QUOTE

Hi Healthgirl. My sister spent a lot of time at my house at the time of onset. It stared in both of us in December 2012. It was within weeks of each other as we were both seeing neuros that thought we were mad. The fact we were both seeing one at the same time they found quite unbelievable. Sister sent to see a shrink. I was sent to see someone about health anxiety! I told the neuro this and his reply was well others in family would be affected like husband and then said because me and my sister both have inflammation of nerves it must be genetic. I said well proff I saw in London said ours wasn't a channelopathy . He said don't take too much notice of that and said see what prof says in Oxford. He can check for other genetics. I'm going to ask them about the one Kiwi and Mrs D mentioned .if the specialists in Oxford can't give me any answers I'm at the end of the road.

Originally Posted by Healthgirl

Could there be mold in either location you and your sister spent a lot of time together in 2012? Just curious. Not sure what to think of that theory, but we did find mold in our old house when we were moving and had to get rid of the furniture. I didn't think a whole lot of it then, but it's the only thing I can say I know we were exposed to. Also did you have any renovating going on in either location? Sheetrock dust, solvents, paint fumes, floor refinishing, etc? We also had that going on, so I honk one of the two are linked to putting the genetic switch into overdrive for us. What else does your son say?


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Originally Posted by Goosiegoo

I think we are very similar!
Hopkins thinks I have an scn9a mutation causing SFN.
I did 23&me and did find a mutation
That can cause increased pain by affecting sodium channels.
My symptoms are bilateral frontal thigh burning sensations and
My toes can burn and turn red if I exercise in the evening in sneakers or before bed. I think it may be caused by erythromelagia or SFN.
Biopsy was done twice 18 mo apart. Most recent test shows my ankle at 29fibers/mm when abnormal is 5.
I have noted that fibers are increased from before by about 50%!
My levels appear to be slightly above normal range
My mom complains of her legs feeling heavy that she related to a mini stroke.
My dad has Parkinson's and my younger sister developed MS ( first cousin too)
A year before my symptoms started.
Any thoughts for me?

Originally Posted by LouLou1978

I don't think we have any mold but we were having our bathroom refurbished at time of onset.

My son had mentioned crawling and that his underwear feels painful. The proff, has said not to read to much into this at this point in time. We have to wait 3 months for results from sodium channel mutations. Did you ever have these tests Healthgirl?

Originally Posted by Healthgirl

How old is your son?

Originally Posted by LouLou1978

He is only 5. My other son seems o.k who is 9. The proff said you can have the mutation but it doesn't always lead to symptoms so this is why there is no past family history.

Originally Posted by Healthgirl

Did you have symptoms as a child?

When I look back, I had mild dysautonomia, heat intolerance, joints that would crack out and back in, but was pretty much a normal kid and it probably all could have fallen under an anemia diagnosis since I was anemic. Later in my early twenties, my SI joints would go in and out and cause some problems here and there and I became hypoglycemic, but controlled it with protein every 2.5 hrs and was fine, Thirties I felt better than I ever did, knew how to take care of my idiosyncrasies and had 3 kids by then. Two of my three had some of my "sensitivities", but the other had none. I can tell you that never in in my childhood or whole life until I got sfn, did I or my kids have nerve pain, crawling, numbness, or tingling. So I am having a very hard time accepting that a mutation is the answer to this. Obviously we were genetically predisposed to what ever happened, but life was pretty normal before this. Maybe I'm just in denial.