diagnosis

[catbindy]

can I ask has anyone else took a long time to diagnose b12 normal other tests normal

My dad was diagnosed same age as me similar symptoms all tests normal only diagnosed with lumber puncture

[B12life]

wow! I had no idea that a b12 deficiency could be diagnosed by a lumbar puncture. Is that what they said after the puncture, that he was b12 deficient or were there other things.

It took them 4-5 years to diagnose my deficiency. First time (beginning of the 5 years), They detected it, and gave me one shot a week for a month.

Then they considered it solved. 5 years later I was very I'll. They diagnosed it again, but again, just blew me off and wouldn't give me adequate injections. They wanted to give me 4 and stop, so I read about how it requires daily or every other day injections until symptoms resolve. Frankly, the damage was done and I am left with some permanent brain damage. Though I'm doing well both physically and mentally, I struggle with the limitations in cognitive impairment.

All in all, I am doing very well considering where I started from. I was bed ridden and yet I'm a very ambitious person. So there is hope because of the injections.

B12 deficiency is ignored and grossly misunderstood by the medical community, thus most of us go untreated until we do it ourselves.

I eventually did find a doctor willing to help. However I find it easier to just get the supplies for the b12 injections and do it on my own. I had a pharmacist want to take it away, despite the doctor's prescription. I think it's because he though it was dangerous, yet when I questioned him he couldn't answer the questions. He gave me hell. I had lots of doctors give me hell. In fact I will only talk to that one doctor about the injections because if I mention that I do frequent b12 injections, they freak out. Only that one doc doesn't because he is one of the few who are intelligent enough to know it's not a risk unless you have an existing unrelated kidney or liver function problem; both of which I have been tested for numerous times and had ruled out.

I had a Mayo Clinic hematologist vehemently tell me b12 wasn't my issue; boy was he wrong. The injections are the only thing I have done different and I am now back on my feet. Do not just defer to doctors. Get tests from them, but advocate for yourself by educating yourself about b12 deficiency and how to treat it then do whatever it takes to make it happen and as with so many of us on the forum, it has meant doing self injections (SI).

Testing your b12 once you start injections is absolutely unnecessary because the test the b12 in the blood (serum b12 test vs active b12) and that's where the injections go, but that doesn't test how much you are absorbing.

[catbindy in reply to B12life]

Arh sorry to hear you had such tough time

Yes he was do unwel b12 all normal he was hospitalised could hardly walk so they did the lumbar and diagnosed pernicious anaemia my nan at the time was unwell and had been for years mentally she was admitted to a hospital and tested and she also has pernicious anaemia

I’ve had numerous tests which are all normal but my dad adamant I have it I have so many of the symptoms and have been struggling for 2 years

Just was asking if others had difficulties with diagnosis

Thanks for your reply

[Nackapan in reply to catbindy]

Interesting about the lumbar puncture.It eas s one of the earlier invasive tests my daughter had.

She definitely had b12 deficiency at the time but no serum b12 test done and no diagnosis from a lumbar puncture .

How is it obtained from s lumbar puncture??

To answer your question it took too many years to diagnose my daughter.

In Hindsight hef problems started at 9 after a nasty fall.

Diagnosis after so many investigations at ? 25.

First serum b12 done when in hospital for 10 days as I blocked her discharge twice.

As still too ill to be discharged and started giving psychological reasons for her symptoms 😢

B12 deficiency/ PA in 3 generations of our family.

Very different presentations.

My 93 year old mum has a bright mind again with enough b12.

Her sense of humour back.

I think she suffered for too many years .

Symptoms masked

B12 not even considered

Stemming right back to radiotherapy for ovarian cancer.

The treatment saved her life but

damaged her bowel.

Brought on an early menopause .

As for me I'm convinced I'd be in a better place if I was tested and listened to ? 3 yesrs before first b12 level done.

Bit onwards and upwards .

So yes struggles with a diagnosis.

Without a comprehensive test in place I've not pushed for more tests as there is a high probability another doctor wil stop b12 again.

Had ? 5 up to now and numerous nurses do just that .

It takes slot of energy getting thr prescription back.

Also had to do this 3 times for my mum .

Also to change them to 2 monthly .

Such a change in quality of life.

My daughter can now fight her own battles.

There were yesrs she couldnt though as to 🤒.

Ask for more tests.

Functional b12 deficiency if b12 levels are 'in range ' can be tested for.

Rule other things out.

Your dad is probably right !!

To date nothing else found for me .

Gps adamant b12 deficiency coukdnt cause such major symptoms!!!

Wish I wasn't the guinea pig to educate her.

She stated so restricted I'm guidelines for referrals ect/ treatment.

Push push push

Give family history

Give them a reason to' allow them' to do more tests !!

[deniseinmilden in reply to B12life]

Don't give up hope - I'm still improving after almost 8 years of daily SI. My brain is working so much better now than it was even last year and I thought it was pretty good then.

I've had lots of battles, including with a pharmacist, just like you. Mad, isn't it!

[Sleepybunny]

Hi,

I lost over 15 years of my life to the hell of unrecognised and untreated B12 deficiency.

Things were complicated by the fact that most of my serum (total) B12 results were well within normal range (had one result well below range) despite over 50 typical symptoms and tests for PA and Coeliac disease were negative. NHS refused to treat me and I was forced to treat myself.

I consider myself lucky to have avoided permanent dementia and spinal cord damage.

PAS (Pernicious Anaemia Society) did a survey a few years ago which showed that some people took more than 10 years to get a diagnosis. I suspect some people take even longer.

I was unaware that PA could be diagnosed with a lumbar puncture. I know that lumbar punctures can help to diagnose MS (Multiple Sclerosis) and Lyme Disease.

A few links that may be of interest

Link about "What to do next" if B12 deficiency suspected or recently diagnosed

b12deficiency.info/what-to-...

If PA suspected, worth joining PAS who can offer support and pass on useful information.

PAS (Pernicious Anaemia Society)

Based in Wales, UK.

pernicious-anaemia-society....

There is a helpline number that PAS members can ring.

PAS membership is separate to membership of this forum.

"I’ve had numerous tests"

Testing for PA

pernicious-anaemia-society....

I've also read that a pepsinogen test may be useful.

Do your GPs know that it is possible to have Antibody Negative PA?

Diagnostic flowchart from BSH Cobalamin and Folate Guidelines which mentions Antibody Negative PA.

stichtingb12tekort.nl/engli...

Unhappy with Treatment (UK info)?

Letters to GPs about B12 deficiency

b12deficiency.info/b12-writ...

Point 1 in above link is about being under treated for B12 deficiency with neurological symptoms present.

Blog post about being symptomatic for b12 deficiency with a normal range serum B12 result.

b12deficiency.info/your-ser...

NICE CKS guidance B12 deficiency and Folate deficiency ( a UK health document)

cks.nice.org.uk/topics/anae...

There are currently new NICE guidelines in development for Pernicious Anaemia and B12 deficiency. These should be published in Nov 2023.

nice.org.uk/guidance/indeve...

I urge UK forum members to track down the local B12 deficiency guidelines for their ICBs (Integrated Care Boards) or Health Boards as GPs are likely to refer to these for advice on treatment and diagnosis.

Some local guidelines are not helpful. See blog post below.

b12deficiency.info/gloucest...

Two useful B12 books

"What You Need to Know About Pernicious Anaemia and B12 Deficiency" by Martyn Hooper

Martyn Hooper is the chair of PAS (Pernicious Anaemia Society). Some of the UK treatment info needs to be updated. See NICE CKS link.

"Could it Be B12?: An Epidemic of Misdiagnoses" by Sally Pacholok and JJ. Stuart (US authors)

Misconceptions

Many on here have met health professionals with wrong ideas about PA and B12 deficiency.

Misconceptions about a B12 deficiency

(From Dutch B12 website - units, ref ranges, treatment patterns may vary from UK)

stichtingb12tekort.nl/engli...

Diagnosis and Treatment Pitfalls

(From B12 Institute in Netherlands - units, ref ranges, treatment patterns may vary from UK)

b12-institute.nl/en/diagnos...

Links to forum threads where I left detailed replies with lots of B12 deficiency info eg causes and symptoms, more UK B12 documents, B12 books, B12 films, B12 websites and B12 articles and a few hints on dealing with unhelpful GPs.

Some links may have details that could be upsetting.

Some of the info will be specific to UK.

healthunlocked.com/pasoc/po...

healthunlocked.com/pasoc/po...

healthunlocked.com/pasoc/po...

Next thread is a thread about Patient Safety. It has useful links for people who've had difficult health experiences.

healthunlocked.com/pasoc/po...

I'm not medically trained.

[wedgewood in reply to Sleepybunny]

Great response as always Sleepybunny 👍🏅

[jaybirdxNHM]

My grandma in the 40s, was given B12 jabs ,after being hospitalised and fed raw liver. Dad ,and elder sister diagnosed quickly and monthly jabs . Me diagnosed in 80s by elderly neurologist on symptoms only . Given monthly jabs ,but stopped by ignorant GP. Took long time before a clued up GP said jabs back on. See previous posts for next installment!!

[Cherylclaire Forum Support]

May be worth having methylmalonic acid (MMA) tested. Have you had folate, ferritin, vitamin D and thyroid all checked ? Your health problems, your family history and your dad's understandable concern should be reason enough to get a range of tests done.

My B12 was only 1 ng/L below range but luckily the GP arranged treatment. I did not "pick up" as expected and nothing else could be found. The doctor had my MMA tested: my MMA was raised, meaning that it was not making the expected connection in bloodstream with the injected B12, so cells and tissue were affected.

I was diagnosed with functional B12 deficiency. Other causes for raised MMA were ruled out (SIBO, renal problems).

It took three years (and five more MMA tests) for frequent B12 injections to work in reducing the MMA. It took about two years to stabilise folate and ferritin at more healthy levels. My osteoporosis of the spine, treated with vitamin D and Raloxifene, has reduced to osteopenia - this also took a couple of years. Thyroid seems to be stable now (two of my sisters have Grave's disease, so worth checking).

No other causes for any of my symptoms was found. I am now generally able to manage my symptoms by self injection every 3 or 4 days. The doctor monitors all the rest - not the B12 as no point: she already knows it will be very high.

Don't just leave this.

[catbindy in reply to Cherylclaire]

thank you so much for this I’ll try speak to my dr about this I have just finished medication for folate deficiency issue is getting to see a dr in first place

Thank you so much

[Sleepybunny in reply to catbindy]

Hi,

You might want to discuss with GP that treating a folate deficiency without treating a co-existing B12 deficiency could lead to neurological problems.

I would expect B12 treatment to be started first in someone with both deficiencies.

I'm not a health professional.

See Cautions section in link below

BNF Folic Acid

bnf.nice.org.uk/drugs/folic...

NICE CKS B12 deficiency and Folate deficiency says

"Check vitamin B12 levels in all people before starting folic acid — treatment can improve wellbeing, mask underlying B12 deficiency, and allow neurological disease to develop."

cks.nice.org.uk/topics/anae...

[catbindy in reply to Sleepybunny]

hi my b12 levels have always been normal that’s the max thing but all my symptoms aware sane as my dads and my nans when they both has pa nan took 30 years to diagnose dad 3 years xx

[Sleepybunny in reply to catbindy]

My GPs refused to treat me despite many typical B12 deficiency symptoms partly because most of my serum B12 results were well within range.

I realised that I was headed for permanent dementia and spinal damage (I already had dementia type symptoms and spinal symptoms) if I didn't get treatment so I was forced to treat myself.

UK guidance on treatment for B12 deficiency suggests that people who are symptomatic for B12 deficiency should be treated even if serum B12 results are normal range.

NICE CKS guidance says

"Note: clinical features of vitamin B12 deficiency can occur without anaemia and without low serum levels of vitamin B12."

cks.nice.org.uk/topics/anae...

NHS article on B12 deficiency says

"It's also important for your symptoms to be taken into account when a diagnosis is made.

Some people can have symptoms and also seem to have normal levels of these vitamins. "

nhs.uk/conditions/vitamin-b...

Point 5 in link below is about writing a letter to GP if symptomatic for B12 deficiency with an in range serum B12 result.

b12deficiency.info/writing-...

BSH Cobalamin and Folate Guidelines summary says

" In the presence of discordance between the test result and strong clinical features of deficiency, treatment should not be delayed to avoid neurological impairment"

pernicious-anaemia-society....

Does your GP have a list of all your symptoms especially any neuro symptoms and definitely including any symptoms affecting spinal area?

I used the PAS list below and added other symptoms at bottom of sheet.

Symptoms of B12 Deficiency (folate deficiency also mentioned)

pernicious-anaemia-society....

b12deficiency.info/signs-an...

cks.nice.org.uk/topics/anae...

b12-institute.nl/en/symptom... (from B12 Institute Netherlands)

Have you asked your GP directly face to face or maybe in a letter if you could have PA?

Is your GP aware of the family history of PA?

Many of us on this forum have met health professionals with wrong ideas about PA and B12 deficiency.

Misconceptions about a B12 deficiency

(From Dutch B12 website - units, ref ranges, treatment patterns may vary from UK)

stichtingb12tekort.nl/engli...

Diagnosis and Treatment Pitfalls

(From B12 Institute in Netherlands - units, ref ranges, treatment patterns may vary from UK)

b12-institute.nl/en/diagnos...

B12 article from Mayo Clinic in US

Aimed at researchers and health professionals. Best article on B12 deficiency I've come across.

The Many Faces of Cobalamin (Vitamin B12) Deficiency

ncbi.nlm.nih.gov/pmc/articl...

Table 1 in above article is about frequent misconceptions about B12 deficiency that health professionals may have.

It's vital to get prompt and adequate treatment for B12 deficiency. Delayed or inadequate treatment increases the risk of developing permanent neurological damage including damage to spinal cord.

PAS article about SACD, sub acute combined degeneration of the spinal cord

pernicious-anaemia-society....

Blog post from Martyn Hooper's blog about PA and B12 deficiency, mentions SACD

martynhooper.com/2010/09/21...

Have you considered joining PAS (Pernicious Anaemia Society)?

You do not need a confirmed diagnosis of PA to join PAS.

PAS membership is separate to membership of this forum.

pernicious-anaemia-society....

Lots more info in threads at bottom of my other long reply.

[catbindy in reply to Sleepybunny]

thank you so much for this I really appreciate it can I ask what spinal issues it has caused

I’m going to have good read through this later I’ve printed the symptom checklist and will take this into my dr when I get an appointment as each day I feel worse

Thank you so much did u have folate defiance and not b12

Thank you

[catbindy in reply to Cherylclaire]

sorry I’ve got bit of mistake it was bone marrow he had to finally diagnos not lumber puncture so sorry I’m bookinh into GP this week I’ll ask re mma also thank you x

[Sleepybunny in reply to catbindy]

Hi,

I found some interesting articles when I searched for "B12 deficiency bone marrow".