Hello-introduction

[sjj]

just found this site - seems quite quiet!

I'm 38yo female with CMT1A. I have 2 boys, youngest aged 9 months has the duplication, but no symptoms yet.

Anyone tried Vitamin C?

[leaf]

hello sjj,
It's quiet cos the forum has just reopened again after being off-line for a few month. So its a fresh start.
Not many come through here though, or stay for that matter.
I've not tried vit C, not in the doses that it is being used in the trials, which I believe are very high doses. I'm not that hopeful, I have hnpp and I've not been able to work out whether it would be of any use to those with pmp22 deletion rather than the pmp22 duplication of cmt1a. Besides I think there is far more to cmt/hnpp than just a problem with this gene. Any research, though, is better than none at all, so I hope that there will develop a better understanding of our underlying genetic problems.

Jon, sometimes leaf

I've just read (somewhere) that Vit C works by reducing the expression of the PMP22 gene, so somehow I dont think it will work for Hnpp, and maybe cause more harm, but I've yet to read that in any publication.

[sjj]

Good to meet you. Perhaps others will join us as they find the new site... Are you referring to the MGH neurology chat room? I looked for it recently, having logged on a few years ago, but it had closed down- I wonder why?

I've read up on vitC in a paper in mice acting as a model for CMT1A, with over-expression of PMP22, as in humans. Vitamin C did seem to down-regulate the PMP22 protein, so I guess it wouldn't be any use where under-expression is the problem, as in HNPP. Nonetheless, the fact that they seem to be starting to manipulate PMP22 expression may open up new avenues for HNPP in the future.

While waiting for the results of human trials, I've started myself and my affected son on Vit C and was wondering how soon I might see a response, if I'm going to!

I don't know much about HNPP. How does it affect your everyday life?

(Have just read some of the HNPP links you've supplied and realise my last question has been comprehensively answered - sorry! I've had experience of a lateral cutaneous nerve of thigh palsy and now have complete sensory loss on the sole of my foot due to tibial nerve palsy. Both of these post op. This gives me some insight into how unpleasant your palsies must be from a neurogenic pain/ sensory loss perspective. My CMT symptoms are primarily motor, with lower leg and some hand weakness and the secondary orthopaedic issues re foot deformity. Getting over an ankle fusion 7-8 weeks ago and wondering when to go back to work...)

Sarah

[leaf]

Hi Sarah,
I think the MGH chat room became this one, though I'm not sure. Braintalk was actually offline for most of the summer, there were hardware and software problems.

Good luck trying the VitC, I'm hazarding a guess, and would imagine it may take a few months before any significant difference is felt. But that really is a guess.

The most annoying thing with Hnpp is the ease at which the palsies can occur. The ones which last a few hours to several days are a real bind, as they can affect our daily lives, but are not often acknowledged by our Doctors, who seem interested in permanent problems only. It doesn't matter to me that it isn't permanent if everytime I try an activity and get a palsy which prevents me from completing that activity. We have to learn to be adaptable, but it isnt easy.

I've read a few reports recently where CMT/HMSN has been described as Dysmyelinating rather than Demyelinating, though I suppose it might be the resulting Demyelination that causes the clinical problems.

Here's an example,
http://web.sau.edu/psychology/devolder/Psyc540/nerve_conduction_velocity_factors%20and%20myelin%2 0disorders.htm

Just curious really.

jon

[sjj]

I suspect the use of dys- rather than de- myelination is just semantic, reflecting primary abnormal formation of myelin in CMT, rather than a disorder of originally normal myelination, as in MS...

Have started myself on VitC with no ill effects and have increased dose to 2g twice a day. Baby Ed is pooing for England, which may or may not be VitC related, as he's always picking up non-specific bugs from nursery, but have reduced his Vit C dose to 100mg twice daily for now. Wish there was more direct experience of treating weenies so I could be sure his dose is ok.... Little point in asking GP, as they're less well informed than we are (I am a doctor and have hunted around as much as possible on the net.) We'll see - aim to continue at least until initial trial results are out, so couple of years at least.

Wondering when to go back to work - have been off for 11 months due to combo of mat leave and now sick leave (ankle fusion). Feeling a bit of trepidation - might leave it until after Christmas now!

Sarah

[leaf]

Re. De- and Dys- , I think it's worth noting the difference. But then I would... lol ;)

What are the safe limits for vitC dosage. Is there an upper limit, or is it always assumed that what's not needed is excreted. It can't be easy choosing the right dose for a sproglet, even if you do know these, which I'm assuming you do. I think I would be shy of the choice and go for the upper limit for RDA, at least until more is known.
How are the group at CMTUS getting on with the trial?

Christmas is bound to be hectic. Will it be Baby Ed's first one?

jon

[sjj]

American safe upper limits for adults = 2g. Mouse studies dose were equivalent to 4g for an adult male. I started at 2g and have increased to 2g twice a day with no ill effects.... Vit C is very safe. Excess is weed out. Major side effect is diarrhoea (reversible on stopping). Other side effects minimal.

You're right, it's harder to know how much for Ed. No recommended upper safe dose for under 1 year. American upper recs for age 1-3 = 400mg. Ed's a bit above average weight and 9 months, so gave him 400mg in split doses. He had 6 loose poos a day (normally 3 ish - I know, probably too much info!), so have reduced to 200mg. Poos normal for last 2 days, but could have been a coincidental bug! Planning to let him stabilise for a few days then might increase it gradually.

Yes, it'll be Ed's 1st Xmas, but expect it'll largely pass him by. We've also got a toddler, who'll be 2 1/2 then, who I expect will enjoy it hugely!

Sarah

[leaf]

Hi sarah,

I hope everything is going ok, how's little Ed getting on, still pooing for england?

I've been a bit out of sorts lately, my concentration takes quite a hit, and is more to do with vertigo than palsy. But I heard a little snippet on the Radio at the weekend which reminded me of you and your vitamin C trial.

Rosehips... they're pushing Rosehips (not up the hill backwards, that'd be a change from cheese rolling ... ) ... lots of vitamin c apparently,

There's a recipe on the Beeb for Syrup,
http://www.bbc.co.uk/radio4/womanshour/food/recipe93.shtml

jon

[sjj]

Thanks for asking and for rosehips tip. We weren't sure whether poos were due to a bug - others ill in family and nursery, so seemed likely. It went on for ages, so put him on soya milk as babes can get a secondary lactose intolerance after a bug. Pooing stopped overnight (not totally, obviously!) despite continuing high dose vit C, so can't all have been due to Vit C. He was ok for a week or so...

However, poor little chap has since had chickenpox. Not too bad, but stopped eating as much as normal and has pood++++ again last few days even on soy milk. Will take him back to GPs for bright ideas(!) after New Year if it doesn't settle again.

Merry Christmas! Hope 2007 will be good for you!

Regards,
Sarah

[leaf]

Hi Sarah,

I hope all's well.

I've not been around that much recently, I've been sulking a bit. Asthma and muscle weakness has been giving me a bit of a kicking. I was trying out new meds, and they weren't as good as the previous ones. Back on the old ones now, so feeling more chipper.

jon

[ozma10]

Has anyone else with CMT1A tried the vitamin C treatment???I have and it is actually working!! It's amazing!! Be careful to use Ester C or something with buffers to avoid intestinal upsets. If anyone is listening and interested I would love to write about it.
Sue

[leaf]

Hi Sue,
great news that the vitamin c is working so well for you. There are some trials taking place in the UK using vitC, I'm not sure when they start.

I dont think it will work for me as I have Hnpp, but it's a step in the right direction if it works for cmt1a.

jon

[ozma10]

Hi Jon,
Thank you so much for responding to my post. I'm new to this type of thing so I don't know how it all works. I've really been trying to contact sjj to talk about the vitamin C treatment. It IS working! I don't know anyone else who is trying it but I read the same paper (as sjj) and saw how it worked with mice. I had been diagnosed at one time with HNPP but the DNA test proved it to be CMT 1A. They seem somehow related as it involves the same gene, one being duplicated and the other being eliminated, as I understand it.
I am elated over the improvements that I am seeing and feeling every day. I hope you are having a great weekend. We had some rain but at least it was warm!
Sue