B12 Loading doses for months? MTHFR genetic defects.

[chocoholic17]

Hi all,

I know the recommendation for loading doses is until you see no further improvement, then bi-monthly, for neurological problems caused by b12 deficiency but has anybody had loading doses for more than three months?

That's how long I've been having them and I still have horrendous burning/pins and needles pains in both legs and feet. I've had the pain for nearly two years now and had one short spell of b12 that was stopped by my neurologist but genetic tests showed I have numerous defects including two MTHFR mutations, which means an inability to absorb folic acid and thus problems absorbing b12 too.

Because I have other chronic conditions, the assumption was made that my pain was down to peripheral neuropathy, caused by me having Type 1 Diabetes but I am a well controlled diabetic and I never bought that. I also have Hashimoto's Disease, Lyme Disease, suspected P.O.T.S. (Currently awaiting lots of heart and autonomic nerve function tests for that) plus other genetic mutations and polymorphisms causing me problems with detoxification.

It was almost a relief when I found out about the MTHFR genetic defects because My gut instinct was that it was B12 behind my lethargy and leg pain in particular. I lost my father to Motor Neurone Disease years back and cannot help but wonder if actually he had a b12 deficiency too as untreated it can destroy the myelin sheath.......exactly what causes Motor Neurone Disease!! Co-incidence or what!!

I just really need to know how long before I have to give up on the B12 loading doses and accept my life has to be permanently lived with this non stop leg pain? I don't think I can bear it if this is permanent.

Thanks for reading.

[jillc39]

oh dear - I hope others on this site can be more supportive = but I just wanted to say I do know how hard this must be for you. I too have constant pain from neuropathy and long for more b12 from my gp - I have had to turn (secretly) to si. If my gp knew I would be thrown out of the practice. I am interested to read that you are getting loading doses for three months. my gp wouldn't hear of that.

[fbirder]

are your symptoms getting better? If yes, then carry on with loading doses. If no, then there is no longer any improvement and no need for further loading doses.

It may be that any damage is permanent or it may be that the problems aren't caused by a B12 deficiency. Rather than guessing the cause you really should consult with a neurologist. There are loads and loads of causes of peripheral neuropathy and some of them can be serious.

A MTHFR mutation doesn't mean you can't absorb folate or that there are any problems absorbing B12.

The MTHFR enzyme does one thing, and one thing only - it converts methylenetetrahydrofolate into methyltetrahydrofolate. If you have two copies of the C677>T mutation then the efficiency with which that enzyme does this job is diminished. For many people the body can easily compensate, by making more of the enzyme, for example. Even if it can't, the problem can be solved by taking the end-product of that reaction, methyltetrahydrofolate, also known as methylfolate, as a supplement.

[chocoholic17 in reply to fbirder]

Thanks for your replies.

I didn't say I have a problem absorbing folate. It's folic acid, the synthetic form of folate that I have a problem with. I was told this by the London endocrinologist who got me the genetic tests done and referred me to a nutritionist for helping to address my methylation pathway defects and detoxification defects. I was advised I needed methyl folate along with B12 supplementation and Tracey Witty from the b12deficiency.info site was also convinced my list of symptoms and the MTHFR mutation was in particular indication of these problems. I am only following their advice.

I have read that neurological problems due to b12 deficiency can take an awful long time to show improvement, so I just was hopeful of hearing from someone who had had long term injections that did eventually help. I need some hope.

I meant to say, I am under a neurologist, endocrinologist, cardiologist and nutritionist.

[Gambit62 Administrator in reply to chocoholic17]

I think the problem may be the use of the word 'absorb' - which is usually applied to getting nutrients from your gut into your body - MTHFR doesn't affect this but it does affect your ability to process and use different forms of folate and can impact on your ability to process different forms of B12 in order to be able to use it for all the various processes that B12 and folate are used for at the cell level.

[chocoholic17 in reply to Gambit62]

Ah, that makes sense. Thanks for clarifying, Gambit62.

[Cherylclaire Forum Support]

I have been having 2 injections a week, chocaholic, since October. The 6-in-a-month loading injections I first had last February went well enough, then having to wait for 3 months made me so much worse that by the 2nd one, more tests were carried out, "functional B12 deficiency/ insufficiency at tissue level" confirmed by lab. to my GP, who immediately put me on 2-a-week until no further improvement. YES, thankfully, there is some: I look a lot better (most of the time), hair loss and sore skin and splitting at the corners of my mouth rare now, mood swings mostly gone, and I certainly feel calmer: not crying or shouting. However, I still have trouble with memory, disorientation and cognitive problems and have an appointment to see a neurologist in May. Nurses, initially very nervous about going "off-programme" (which for them was 1 every 3 months) have now realised that I'm improving and not likely to die of an overdose (!) so injections likely to continue until I see neurologist.

I'm not ready to say "This is all I'm going to get back and I'm happy to stop trying"- as this would also mean leaving work. Still off sick, since September, but still hoping....so stay positive: neurological problems will inevitably take longer. Read Stichting B12 Tekort (translated to English) on misconceptions: they say 2 injections a week for as long as 2 years if needed.

Can find nothing helpful for my GP re. long-term treatment for my particular condition, but willing to self-inject as last option should neurologist prove unhelpful. Meanwhile, GP is on-side and trying to track down a specialist in B12 at St Thomas' without reply so far- but she DOES exist !

Although my first injection was in February, I did not feel them at all until December- no pain but felt needle go in. Not sure if this is helpful, but I believe there is a point in continuing. Today, I'm going to write down all my symptoms, and then list improvements in frequency and in severity. Just to make me happy about progress. Wish you well, chocaholic.

[chocoholic17 in reply to Cherylclaire]

Thank you Cherlclaire, that's really encouraging. I'm so glad you are seeing some improvement yourself. I shall continue with injections for now then, as I do think my hair loss has lessened and I have a bit more energy now, it's just the awful leg pain that never seems to improve. I shall keep some hope for now, then.

Wish you well.

[jillc39]

Cherylclaire St Thomas' really... if you do find out please please let me know.

[Cherylclaire Forum Support]

jillc39- yes, I know ! !

But I also know that the Good Dr has been trying to get answers from the expert since before Christmas. She does exist, however, and am hardly surprised that she is so difficult to reach: she must be absolutely overwhelmed by e-mails from anxious Drs who have rapidly come to the end of what they have been taught about the management of B12 deficiency. As soon as I know anything, I will of course let you know.

[hendry]

Do not despair.

It took me the best part of a year to really have the neuro. symptoms to lessen then go. I tried methyl. did nothing for me at all. Hydroxy. however , I did respond to quite quickly but it still took months and months to really go. I still find it a balancing act between folic acid iron and b12 but by and large I keep very well and can do everything I want to.

[chocoholic17 in reply to hendry]

Thank you, hendry, that is very encouraging to hear. Having spent the last two nights with NO sleep because of the unbearable pain in my legs and a feeling of everything being 'speeded up' in me, I actually said to my husband last night I did not feel I wanted to live my life much longer if this is how it is going to be. I look fine to anyone looking at me but all my conditions affect me 'inside' and mostly I try and put on a brave face but at night, when sleep eludes you, everything seems so much harder to deal with.

I shall try and hang in there now, if there is the slightest chance this pain might lessen in time with the injections. I've tried so many meds through the neurologist over the last couple of years, that only made me feel worse in other ways, that I don't know who or where to go if the B12 shots don't work.

If a dog was in such pain, they'd be given treatment (even for Lyme Disease) but as a human being I'm presenting with a lot of conditions with edges blurred and have been advised there IS no cure for Chronic Lyme Disease and other than B12, doctors are running out of ideas I think. Maybe I need to don a shaggy coat and learn how to bark. Lol

[hendry in reply to chocoholic17]

HANG ON IN THERE. I was demented with the pain in my hands and legs it was like permanent electric shocks. As I said it took months before it began to go BUT IT DID GO. It returns in a much lesser fashion in my right foot if I am low in b12 and I think iron too. Remember nerves repair at a lamentably slow pace.

[chocoholic17 in reply to hendry]

I so needed to hear that just from someone, hendry. THANK YOU so much. May I ask how long you had the injections for at the frequency of every other day?

[fbirder in reply to chocoholic17]

Are you on any medication for the pain? Normal painkillers tend to be useless for neuropathic pain. Instead anticonvulsants (like gabapentin or pregabalin) or antidepressants (like amitryptaline or Effexor) have been found to help.

My neuropathy isn't caused by a B12 deficiency, and I know it's never going to get any better. I take gabapentin to help me sleep. I've also started using alpha lipoic acid (not been on it long enough to tell if it's helping).

I'm also trying cannabidiol which does seem to be doing some good.

The ALA and CBD aren't prescription drugs and I reckon my doc wouldn't be pleased about me taking them, especially the CBD, but I'm getting quite desperate.

[chocoholic17 in reply to fbirder]

Yes, Ive tried Pregabalin, Amitryptiline and various others from the neurologist but all had bad effects in me varying from black outs, to diarrhoea, to vomiting to facial twitching......I have always had problems with medications and as my other genetic test showed, I have polymorphisms that affect my detoxification ability, which could partly explain my extra problems with some medications.

The neurologist did say normal painkillers won't touch this nerve pain but I was never one for taking those anyway.

Think this is why I am praying the B12 will help me eventually.

[hendry]

Months and months. I was actually prescribed what I wanted from my G.P as they initially were adamant that I did not have P.A. I was convinced that I DID. I was one of the ones for whom the intrinsic factor test did come back as positive so it was academic that I had pernicious anaemia To paraphrase them. I sourced my own supplies from Germany as I had a friend who worked there and got me what I needed to inject every otherday for at least a year. This gave me peace of mind. I now inject about between 7 and 14 days depending on how I feel. this is SIX YEARS AFTER INITIAL DIAGNOSIS. I noticed quite recently that my repeat prescription for 10 ampules has been stopped. I should query this but as I now get what I want from Germany I CANNOT BE BOTHERED. I AM SURE YOU WILL GET BETTERIN TIME. Read as much as you can the old pernicious anaemia forum is a mineful of info. and really a lot is down to trial and error. The pernicious anaemia society were a great help to me and I cannot thank them enough.

Best wishes for a steady recovery. Remember there are different types of b12 and some are better suited to some individuals than others. There is no one fits all in this condition(unfortunately)

[chocoholic17 in reply to hendry]

Whilst I'm sorry you had to go through having every other day injections for so long, hendry, it has given me such hope.

I had read before about some folk getting their own ampoules and self injecting but I'm hoping it won't come to that as I'm real nervous about doing that. The nurses always inject into my upper arm and I don't think I could stretch round to do what they do. Having to inject myself at least six times a day with insulin, you'd think I'd not worry about another one but it's a bigger needle and I find the b12 injections very painful at times, so guess I'm a bit cowardly regarding self-injection for those.

I sincerely wish you well, hendry and thanks again for the encouragement.