Scoliosis & Vitamin B12 Deficiency

[AndreaM]

Hi Julie & Elisa,

I am keeping as well as I am ever going to since some of the symptoms are permanent. I have completely lost bowel and bladder function due to the nerve damage and that is not expected to repair. Neither is the damage to my leg or the episodes of excruciating nerve pain in that leg.

I have never managed to reduce my treatment so still self-inject B12 three times a week but the difference to my health compared to two years ago is amazing. I am pretty sure I would have died last year had I not discovered my problem.

Julie, ask to have the following tests done:

1. Red Cell Folate
2. Ferritin
3. Serum B12 (or better still Plasma B12 which gives a more accurate result).
4. Homocysteine
5. Methylmalonic Acid (MMA or uMMA)

Also ask what your MCV result is. If raised, this suggests Macrocytosis which is often present in B12 deficiency but can give a false normal result if there is coexisting iron deficiency.

You will get a lot more information at the following website:

www.pernicious-anaemia-society.org

Andrea

[Elisa]

Wow Andrea, you sure have been through the wringer with all those crazy symptoms. I will definitely be keeping a close eye on my son who has scoliosis to see if he develops any of the symptoms you have/had. I hope you are feeling better these days and yes it is wonderful to have the Net so we can look further into these types of problems.

[kidbusiness2]

me too

i just read your thread entirely. I have almost all of these things wrong with me right now. The Dr. is currently wondering if it was/is a D deficiency. I will have to check into this and be tested the way it sounds. I hate living like this & it is affecting every aspect of my life. Thanks for the info.

Julie

[AndreaM]

The test, I believe, for Homocystinuria would be a blood sample to check both Homocysteine and Methylmalonic Acid (MMA) levels within a full biochemistry profile. In the event that these levels were raised, you could be suffering from either mild Homocystinuria or Vitamin B12 deficiency. There are many causes of B12 deficiency but most of them are a problem with absorption and would likely result in a low serum B12 level. Since Homocystinuria is a defect in a certain gene in the Methylation Cycle, it would not necessarily result in a depleted serum B12 level but would prevent B12 being converted into its active form later on in the process. It would, though, almost certainly cause elevated levels of Homocysteine and MMA and this blood test would pick that up.

I have now had these levels checked but, as I have been on aggressive folate and B12 therapy for the last nine months, any elevated level has probably been corrected and I'm not holding out much hope that I'll get a definite answer.

In your own case, I'd recommend that you get the following tests done if you can:

1. Red Cell Folate
2. Ferritin
3. Serum B12
4. Homocysteine (Hcy)
5. Methylmalonic Acid (MMA) or Urinary Methylmalonic Acid (uMMA).

If it showed that Serum B12 was normal but Hcy and/or MMA was high, then you are likely to have a Methylation Cycle defect causing folate/B12 deficiency.

Andrea

[Bigbluefrog]

popping vitamin b12 right now...I have many of those symptoms.....

how do you get tested for it>? not sure if my daughter has it either.

[rainbow2010]

I developed a B12 dificiency at age 40. I accidentially breathed in carpet cleaner and had a severe allergic reaction. I took b12 shots for a couple of weeks and now I take B12 tables everyday. If I don't take tahm, I get rundown very easily.

[AndreaM]

Hi Jess,

What I'm really wondering is whether some people who have Scoliosis, and who later develop folate/B12 deficiencies, have both their conditions as a result of undiagnosed (and mild) Homocystinuria. Usually this condition is obvious at birth and is linked to Marfan type symptoms. However, for those who only inherited one defective gene, they can have a much milder form of Homocystinuria which may not even be evident until adulthood. As well as skeletal problems and tooth-crowding, these people are at a higher risk of developing folate/B12 deficiencies.

However, despite this information being out there, I've never heard of medical professionals suggesting a possible link between Homocystinuria, Scoliosis and Folate/B12 deficiencies. This made me wonder how high the incidence is of Scoliosis sufferers having these other problems. The small poll I referred to suggested a possible higher incidence of Scoliosis than would be expected in those with B12 deficiency. It would be interesting to see if the same was evident by asking the same question in reverse.

The invention of the internet has been a priceless asset for those of us who have had to find our own answers to what is wrong with us. The last nine months have been a real eye-opener and made me fully aware that the people we look to for treatment often don't have anywhere near the information and knowledge that we credit them with.

I'm sure that there must be some people on here who have B12 deficiency, either diagnosed or otherwise. Whether that is connected to Homocystinuria, or NSAIDs and acid-suppressants, is anyone's guess but, if even one person recognises themselves from the above list of symptoms, it will have been worthwhile.

When we have one condition, doctors love to try and associate any others with it and often miss a completely unrelated condition because they have stopped looking.

I hope to be able to manage to persuade doctors to test me for Homocystinuria. If it turned out to be there, it would probably explain my Scoliosis too and at least I'd have a definitive reason for all my problems.

Andrea

[jrnyc]

Hi Andrea

i am so sorry to hear how much & how long you have suffered!

i dont think i understood your post...are you saying scoli causes the vitamin deficiencies, the other way around, or is just related...dont understand what you are saying..i have had scoli for so many years, but no vitamin deficiencies..just vitamin D, common to those who live in northeast & dont get sunlight in winter....so i take supplements

i was given B12 to inject myself when i was severely ill with lyme disease..it was to address the crushing fatigue..lyme can feel like mono & MS at the same time... but when the worst of the lyme went away, (with buckets of IV antibiotics!) we stopped the injections..i should note, i had no deficiency, just severe fatigue..& of course arthritis & other lyme stuff...dont know that the injections even helped me....but i was desperate!!

i worry when so many things are associated with scoli in peoples' minds..i am not denying what you wrote, & your own personal illnesses & experiences are your own...i just think people need to be careful linking things that may not be related to each other...concrete proof is needed to show that such links exist...

best of luck in your quest for answers...

jess

[AndreaM]

I was diagnosed with Scoliosis in 1976 aged 15. I had a fusion done in 1979 which was reasonably successful. However, the rod loosened several months later and I had to have it removed a year after the fusion. I was left with scar tissue and constant pain and was put on NSAIDs and acid-suppressants to protect my stomach.

Nothing much changed for about the next ten years. I then married and had my children in the following two years. When my younger child was just eighteen months old, I suddenly had stabbing pains in the sole of my right foot. They were constant for about a week before subsiding a bit. However, I then began to get the same type of pain in other parts of that leg. I assumed it was a deterioration of the Scoliosis and so did the consultants I saw. I was given x-rays and MRI scans and, although there was evidence of calcification and prolapsed discs, this did not in itself explain the pain I was experiencing.

Six months later, I experienced a TIA (mini-stroke) and it was discovered that my BP was high and I was put on medication for it. From then on, I never felt well. The pain, which I now knew was nerve pain, was getting worse in intensity and frequency and was very difficult to control. I was using a cocktail of NSAIDs, analgesics and Gabapentin to try to keep it under control. I then began to lose grip in the sole of my foot and the muscles at the back of my leg withered. I then experienced bowel problems, an inability to control the emptying of my bowel, and along with that, slight stress incontinence and frequent bladder infections (UTIs).

I was also diagnosed with allergic rhinitus and was constantly congested, requiring nasal surgery. I also had frequent random allergic reactions and unexplained random infections. I was constantly exhausted - not a need to sleep but a complete lack of energy and a heaviness in all my limbs. I started stumbling and losing the ability to concentrate. I slept (or rather didn't sleep) but had to lie down for most of the day. Muscles in my legs would constantly flutter or jerk and I began getting excruciating foot cramps. By this time, I'd also had an operation to straighten and fuse my big toe as it had turned in under the others due to numbness in my foot and leg.

My stomach was constantly upset. I always felt full and bloated and uncomfortable and brought up copious amounts of gas. Then, I couldn't even stand to prepare a family meal and had to keep taking in gasps of air. By last September (2008) my bladder ceased to function at all and I had to start self-catheterising. I also had to self-evacuate my bowel as it had packed up too. By now, I also had to use a cane and could only walk yards before needing to sit down and rest.

Just as I thought I couldn't go on much longer and felt close to death, I noticed someone mention Pernicious Anaemia on the internet. Curiosity alone made me look up what it was and I was astounded to see all my symptoms listed there. My GP agreed to check me for it but the result came back normal. Despite this, and because I still had all the symptoms, he offered me trial injections. Within hours of the first one, I noticed an improvement. That night, for the first time in months, I had no pain at all. Within the week, my BP had returned to normal and I was able to stop the medication. By the following week, my energy levels were beginning to recover and I had stopped stumbling.

Five days after the last B12 'loading dose' my symptoms began to return. I returned to my doctor who allowed me more injections. Nine months later, I'm still on an injection every three days else my symptoms return and have been taught how to self-inject. I can't believe how much better I am and feel lucky to be alive.

However, I haven't responded to treatment as expected and the normal maintenance dose for PA is one injection every three months, or every two months if you have neurological involvement which I clearly have. Even although it is now clear that many people can't manage on a three-monthly injection, very few need as frequent treatment as me. I began to try and find out why. My problem doesn't seem to be one of malabsorption but of something going wrong at a later stage of the process. While researching this, I came across the condition Homocystinuria. I noticed that two of the symptoms are Scoliosis and toothcrowding (which I also have). Those who inherited only one defective gene could remain free of symptoms until adulthood but were at more risk of folate and B12 deficiencies (I also need to take a permanent high dose of folic acid).

I had assumed that my B12 deficiency was caused by my long term use of acid-suppressants as these are known to cause B12 deficiency by preventing the stomach from absorbing B12 from food due to insufficient acid necessary for this function. Added to that was the fact that NSAIDs also have a detrimental effect on B12 and the antibiotic I had to take permanently for repeated UTIs which are an inevitable result of self-catheterisation.

I now wonder whether my Scoliosis and Folate/B12 deficiencies are the result of mild Homocystinuria. In this conection, I would be very interested to know how many Scoliosis sufferers have gone on to develop folate/B12 deficiency. Also, for those who perhaps haven't got the length of being diagnosed, do you recognise yourself from the following list of folate/B12 deficiency symptoms:

Crushing fatigue
Insomnia
Increased anxiety
Inability to concentrate
Memory problems
Balance problems (particularly in the dark)
Need to look at the ground when walking
Stomach upset
Bowel and bladder problems (incontinence/bladder retention or diarrhoea or slow transit constipation)
Tingling and numbness in arms and legs
Electric -shock type pains in particularly legs
Brittle or ridged nails
Prematurely grey hair
Tinnitus
Failing eyesight
Paranoia or mild depression
Sore tongue (beefy and red)
Suppressed immune system
Restless legs and muscle jerking or spasms
Continuous congestion
Need to keep gasping in air (like involuntary sighing)
Enlarged liver (right-hand-side neck/shoulder pain)
High blood pressure or racing heart/palpitations

I asked a similar question on the Pernicious Anaemia website forum and, of those who voted in a small poll, 33% had Scoliosis and B12 deficiency. This seems to me to be considerably more than would be expected.

I would really appreciate if as many of you as possible could respond and let me know if either you, or someone else you know with Scoliosis, has gone on to develop folate/B12 deficiency.

Please also let me know if you recognise yourself from the above list of symptoms,

Thanks very much

AndreaM