Advice Please : Hi all Will try to keep... - Pernicious Anaemi...

Pernicious Anaemia Society

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Advice Please

24 Replies

Hi all

Will try to keep this short. I've just driven a 10 hour round trip to be with my 27yo daughter for her appointment with CFS/ME people.

They have diagnosed her with ME. I asked whether given the strong familial B12 deficiency issue couldn't they try her on injections to see whether there's any improvement. The answer was that protocol doesn't allow it as her level is 260.

What would you do from here. Go back to GP and beg or is it worth seeing someone privately. Any recommendations please.

I feel so upset and helpless 😭

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24 Replies
Nackapan profile image
Nackapan

I'm sorry for your upsetting appointment I've been there many a time with one of mine.

Are all her other bloods okay ?

Vitamin d

Folate

Iron

Ferritin

In what range was her b12 in?

Has she got symptoms listed on the b12 deficiency PA info

Does she eat well. ?

Has she been on supplements including b12 ?

Has her thyroid blood test

Di you know if she has an absorption problem.

It's very difficult I know how to formulate what could be going on.

Lists of symptoms and lists of things tried including medications does help.

Nutritionists can help with diet.

It is very frustrating if you think something g has been missed

B12 can be trialled just on the basis of a chronic fatigue diagnosis.

Ask them to consider symptoms rather than numbers? Is she under a different specialist that could prescribe. How are they treating her?

I now how distressing it is. I hope you can get some more help for her and some b12 injections if you think her symptoms are related to a deficiency.

in reply toNackapan

Thank you Nackapan. Your reply has given me lots of food for thought. It was such a rushed visit as I had to get back to pick my twins up from school. I know she was Vit D deficient but that has been dealt with. No treatment has been offered just strategies to deal with the fatigue. The brain fog is what is bothering her most whilst dealing with a 2 year old son. Thanks again for taking the time to reply xx

Nackapan profile image
Nackapan

Is the protocol I instructions or guidelines?? Every patient should be treated as per symptoms.

fbirder profile image
fbirder

You could try sending them a copy of this paper - ncbi.nlm.nih.gov/pmc/articl... - where some people with ME/CFS responded favourably to B12 injections.

in reply tofbirder

Thank you fbirder that's really helpful 💞

Sleepybunny profile image
Sleepybunny

Hi,

I suggest joining and talking to PAS if you're not already a member and getting your daughter to do the same.

PAS can suggest info to pass to GP.

For example PAS members can print off PAS leaflet "An Update for Medical Professionals: Diagnosis and Treatment " for GP which is a summary of recent guidelines on diagnosis and treatment of PA.

pernicious-anaemia-society....

PAS (Pernicious Anaemia Society)

Based in Wales, UK.

pernicious-anaemia-society....

PAS tel no 01656 769717 answerphone

PAS support groups in UK

pernicious-anaemia-society....

Is there a support group close to you or her?

They can provide emotional support and info about helpful GPs in area. You do not need a confirmed PA diagnosis to go to PAS meetings but you do need to be a PAS member.

PAS membership

pernicious-anaemia-society....

Blog post about how PAS can support PAS members seeking PA diagnosis

martynhooper.com/2017/06/24...

PA tests

Intrinsic Factor Antibody (IFA) test

labtestsonline.org/tests/in...

Parietal Cell Antibody (PCA) test

labtestsonline.org/tests/pa...

PCA is not recommended as a diagnostic test for PA in UK.

Both these tests can be unreliable.

It is still possible to have PA with a negative result in IFA or PCA test.

About 50% of people with PA test negative on IFA test.

About 10% of people with PA test negative on PCA test.

If GPs won't consider PA as a possible diagnosis because her IFA (Intrinsic Factor Antibody) test was negative, shove this flowchart politely under their noses or include it in a letter to GP.

Flowchart from BSH Cobalamin and Folate Guidelines

stichtingb12tekort.nl/weten...

Flowchart outlines process for diagnosing PA and Antibody Negative PA in UK

I also suggest that she writes a letter to GP based on Point 5 and Point 6 in this next link which deals with people who are symptomatic for B12 deficiency but with a normal range serum b12 result. Point 1 about under treatment of B12 deficiency with neuro symptoms may also be relevant.

Letters to GP about being symptomatic for B12 deficiency with normal range serum B12.

b12deficiency.info/b12-writ...

You/she could mention in letter that untreated B12 deficiency can lead to SACD, sub acute combined degeneration of the spinal cord and perhaps refer to articles below.

SACD articles

ncbi.nlm.nih.gov/pubmed/191...

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

Both articles mention patients with SACD where serum B12 was within normal range.

Maybe include extracts from BMJ article below in any letter to GP.

BMJ B12 article

bmj.com/content/349/bmj.g5226

Emphasises need to treat patients who are symptomatic even if their B12 level is within range.

Link about What to do next if B12 deficiency is suspected.

b12deficiency.info/what-to-...

Is her GP aware that B12 deficiency including PA can be misdiagnosed as ME/CFS?

b12deficiency.info/blog/201...

b12deficiency.info/misdiagn...

martynhooper.com/2018/02/10...

Martyn Hooper, chair of PAS, in above blog post says he suspects that many diagnosed with ME/CFS actually have PA (Pernicious Anaemia).

ME Association article which mentions Pernicious Anaemia.

meassociation.org.uk/2018/0...

To be honest, I've lost count of the number of people on this forum who have a prior diagnosis of ME/CFS/Fibro.

I was diagnosed with ME/CFS/Fibro ...strange how the majority of my symptoms disappeared when I finally started B12 treatment. I had over 40 separate symptoms and most were typical of B12 deficiency.

I'd add that once I was labelled with a diagnosis of ME/CFS virtually all investigation into an underlying physical cause stopped because in my part of UK, ME/CFS is seen more as a mental health condition rather than a neurological condition.

I included a lot of links to b12 info in your last forum thread and there are some of my more detailed responses in this next link to another thread on forum.

healthunlocked.com/pasoc/po...

I'll add more to this so check back later.

in reply toSleepybunny

Thanks so much Sleepybunny for taking the time to provide this information. I think I need to take a longer visit in the new year and help her devise a plan. How do GP's usually react to being presented with information contrary to their beliefs? I could almost feel the lady today bristle when I explained that I was my daughter two years ago and how B12 injections have changed my life. It's quite alarming to me that they'd rather label her with ME than look at the possibility staring them in the face particularly as my twins, me, my Dad and Mother were all B12 deficient!

Sleepybunny profile image
Sleepybunny in reply to

I'm so sorry to read about your daughter....I can see echoes of what happened to me.

For me it was over 15 years of increasing deterioration with multiple typical symptoms of b12 deficiency affecting multiple body systems including many neurological symptoms.

I struggled as a mother.

Has she also had Active b12 test, MMA, and Homocysteine tests?

These can help to diagnose B12 deficiency in those with normal range serum b12 but none of them are infallible.

Has your daughter checked her FBC Full Blood Count results? There can sometimes be clues in FBC results as to whether there is b12, folate and/or iron deficiency.

B12 and/or folate deficiency can lead to enlarged red blood cells RBC, known as macrocytosis.

Iron deficiency can lead to small RBC, known as microcytosis.

Blood tests

b12deficiency.info/b12-test...

Macrocytosis

patient.info/doctor/macrocy...

Full Blood Count and Blood Film

labtestsonline.org.uk/tests...

patient.info/doctor/periphe...

Folate Deficiency

patient.info/doctor/folate-...

Iron Studies

labtestsonline.org.uk/tests...

"How do GP's usually react to being presented with information contrary to their beliefs?"

I hate to tell you but sometimes it's badly; I had difficult experiences with doctors.

I suggest trying to avoid face to face confrontation as much as possible by writing letters to GPs that express queries about treatment/diagnosis.

I also recommend that she has someone with her when she has a face to face appointment with a doctor. Even better if they have read up about B12 deficiency.

Please think about contacting PAS soon. I'm sure they'll be able to help in some way but you'll need to join PAS. You could leave a message on the answerphone.

The PAS office may be closed for part of holiday period.

May also be worth contacting ME Association helpline explaining that your daughter has been diagnosed with ME/CFS and that you suspect B12 deficiency due to family history.

Has anyone in your family got a formal diagnosis of PA?

If yes, worth your daughter mentioning that in any letter she writes to GP.

She could also include a list of all symptoms, test results, extracts from UK B12 documents eg BSH Cobalamin and Folate Guidelines, PAS leaflets etc.

Has she been checked for Coeliac disease?

NICE guidelines Coeliac Disease (2015 version)

nice.org.uk/guidance/ng20/c...

H Pylori infection?

patient.info/digestive-heal...

Did she have gas and air during childbirth?

Gas and air mix contains nitrous oxide which inactivates b12 in the body. It can then take time to build up levels of B12 in the body again after exposure.

Nitrous Oxide

gov.uk/drug-safety-update/n...

I suggest your daughter reads UK documents below.

UK B12 documents

BSH Cobalamin and Folate Guidelines

b-s-h.org.uk/guidelines/gui...

Flowchart from BSH Cobalamin and Folate Guidelines

stichtingb12tekort.nl/weten...

Flowchart outlines process for diagnosing PA and Antibody Negative PA in UK

BMJ B12 article

bmj.com/content/349/bmj.g5226

Emphasises need to treat patients who are symptomatic even if their B12 level is within range.

BNF

bnf.nice.org.uk/drug/hydrox...

BNF guidance on treating b12 deficiency changed recently.

pernicious-anaemia-society....

NICE CKS

cks.nice.org.uk/anaemia-b12...

If all else fails there is the possibility of self treatment.

I am not medically trained.

in reply toSleepybunny

Thank you... Dad was diagnosed with pa. Really appreciate you taking the time to reply in such detail. I will collate it all and get her to contact PAS. My daughter is and has always been such a placid child it actually breaks my heart to see her struggling so 😢

Sleepybunny profile image
Sleepybunny in reply to

Hi again,

Sorry for bombarding you with information.

When I was at my worst and it got pretty bad ....all I wanted was to have the information I needed to fight my corner. No-one close to me was able to sit with me during my appointments and speak up for me so I had to fight all on my own.

I consider myself extremely lucky to have avoided SACD (have some mild spinal symptoms) and dementia (my memory is poor though).

I had worked out several years before I started to treat myself that it was one of about three health conditions. I had researched every symptom and kept coming back to B12 deficiency. I persisted in asking for tests to exclude other health conditions and paid for some private blood tests until B12 deficiency was the only possibility left.

I got all my blood test results from past few years and trawled through them. They included a set of results I had forgotten about where I had had a B12 deficiency diagnosed but was not treated correctly at the time. Despite my many neurological symptoms I was only given one set of loading doses. Finding this set of results was light bulb moment.

I looked more closely at my results and found that there were several that suggested the possibility of macrocytosis; this was despite being told numerous times that my results were "normal/no action". These days I don't believe anything I'm told about results unless I have a copy in my hands.

There have been a few forum members who were diagnosed with PA by their doctors but never told about the diagnosis.

Might be worth your daughter and other family members getting copies of their complete medical records to check what has been said in the past. If your daughter is in one of the areas of UK that sees ME/CFS as more a mental health condition rather than a neurological condition it can be very illuminating to see what has been written.

GPs have to correct factual mistakes in records eg wrong name, wrong date of birth etc. They do not have to change a diagnosis that a patient disagrees with but patient can ask GP practice to insert a note in records saying that they disagree with what has been written.

gponline.com/amending-medic...

It may be possible for your daughter to ask to have a note inserted in her records that she is unhappy with ME/CFS diagnosis as there is a family history of PA.

Another possibility is that she writes a letter to GP expressing concern over ME/CFS diagnosis due to family history of PA along with a request to file letter with medical records.

In UK, letters to GP are supposed to be filed with medical records. GPs may ignore this if her IFA (Intrinsic Factor Antibody)result was negative so it may be worth drawing GPs attention to the possibility of Antibody Negative PA in any letter.

See letter writing link in my other post.

Might be worth including a copy of BSH flowchart below in any letter that queries ME/CFS diagnosis.

Flowchart from BSH Cobalamin and Folate Guidelines

stichtingb12tekort.nl/weten...

Flowchart outlines process for diagnosing PA and Antibody Negative PA in UK

Martyn Hooper, chair of PAS, had more than one than one negative result in IFA test before finally getting a positive test result. If one of you joins and contacts PAS they should be able to tell you more about Antibody Negative PA.

The experience I went through with doctors who kept saying it was depression, that my physical symptoms were due to psychosomatic symptoms, hypochondria etc have left me scarred.

With a blood relative with PA, I can't believe they are not considering that possibility.

If you or your daughter speaks to PAS, I suggest mentioning that a blood relative has PA. PAS can then suggest info on PA running in families to pass on to GP. Include family history of PA in any letter to GP and fact that others in family have B12 deficiency.

pernicious-anaemia-society....

Is your older relative the only one with a PA diagnosis despite several other family members being diagnosed with B12 deficiency?

PA is an auto immune condition. Having an auto immune condition in family can increase the chances of other auto immune conditions developing. There are many auto immune conditions that have symptoms that overlap with those of PA/B12 deficiency.

Has she ever been checked for

1) Thyroid disease?

I suggest she puts any thyroid results on the Thyroid UK forum on HU. In UK, GPs often only test TSH and if this is normal range they may assume thyroid function is fine.

Just testing TSH won't give a full picture of thyroid function. There are other thyroid tests they can do. See links below.

thyroiduk.org/tuk/testing/t...

thyroiduk.org/tuk/testing/i...

It is possible to get these tests done privately.

2) Coeliac disease? See link to NICE guidelines Coeliac disease in my other post on this thread

3) Diabetes?

4) Lupus and related conditions such as Hughes Syndrome (also known as Antiphospholipid syndrome APS)

Time

Time is of the essence, there is a window of opportunity for treatment in b12 deficiency from PA or other causes before neurological damage can become permanent.

Although it is difficult to fight for treatment when feeling rough, the consequences of not getting treatment are severe. See links below and also to SACD articles in my first post on this thread.

Neurological Consequences of B12 Deficiency

PAS news item

pernicious-anaemia-society....

PAS article about SACD, sub acute combined degeneration of the spinal cord, avialble to PAS members only.

pernicious-anaemia-society.... See Page 2 of articles.

Blog post from Martyn Hooper's blog, mentions SACD

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

Evidence

Might be worth her starting a daily symptoms diary as this can provide evidence of any deterioration over time and if she starts B12 treatment, can provide evidence of improvement.

Has she got a list of every symptom she has especially every neurological symptom?

If yes, has GP got a copy?

Neurological symptoms include

Tingling

Pins and needles

Insect crawling sensation (known as formication)

Burning sensations

Electric shock sensations

Tinnitus

Muscle twitches

Muscle fasciculations (ripple like movements)

Periodic limb movements ( limb jerks -can also affect fingers and toes)

Restless Legs Syndrome RLS ( can also affect other body parts)

Eyelid flickering

Dystonic Symptoms ( search online for Dystonia)

Balance issues

Vertigo

Migraine

Proprioception problems (problems with awareness of the body in space)

If she loses balance when her eyes closed, when it's dark or when her view of surroundings is blocked this is suggestive of possible proprioception problems.

Memory problems

Brainfog

Confusion

Strange behaviour eg keys in the fridge

Word finding problems (nominal aphasia)

I had all of the above plus others....

In relation to suspected B12 deficiency, GPs often look particularly for symptoms of peripheral neuropathy (PN) especially sensory neuropathy so worth including in any symptoms list, any that are suggestive of PN.

nhs.uk/conditions/periphera...

She could use PAS symptoms list in link below plus add any other symptoms she has to the list.

Symptoms of B12 Deficiency

pernicious-anaemia-society....

b12deficiency.info/signs-an...

b12d.org/admin/healthcheck/...

When considering B12 deficiency, GPs are told to look out for glossitis, this is inflammation of the tongue.

What her tongue like? Is it sore, red, painful? Has she got ulcers?

ncbi.nlm.nih.gov/pubmed/172...

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

If she has tongue symptoms, make sure this is on any symptoms list.

Referrals

If she has neurological symptoms, has she been referred to

1) Neurologist

If she sees neurologist, worth asking them to check her proprioception sense as problems with proprioception are often associated with b12 deficiency.

Two tests that can help to check proprioception are

a) Romberg test

b) Walking heel to toe with eyes closed

Vital that these tests are only done by a doctor at medical premises due to risk of loss of balance. Videos of these tests on Youtube.

If neurologist does not do any tests where patient's eyes are closed then it is likely that proprioception has not been fully tested.

2) Haematologist

NICE CKS link in my other post on this thread recommends GPs should seek advice from a haematologist for patients symptomatic for B12 deficiency who have neurological symptoms.

Have GPs written to a local haematologist asking for advice and mentioning that the patient has a family history of PA?

Is she in a position to pay for private referral if GP is reluctant?

If gut symptoms present, has she been referred to a gastro enterologist?

They should be able to spot signs of gastritis (inflammation of stomach lining) due to PA, Coeliac, H Pylori infection etc.

nhs.uk/conditions/gastritis/

Sadly there is a lot of ignorance about b12 deficiency among some specialists, Strongly recommend that she has someone supportive with her who knows about family history of PA and about PA /B12 deficiency in general if she has a specialist appointment.

I used to request referrals in a brief, polite letter to GP along with evidence that supported request eg family history, symptoms, test results, extracts from UK documents.

Books

Have you read these books?

B12 books I found useful

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

Martyn Hooper is the chair of PAS (Pernicious Anaemia Society). Book does not show updated BNF info.

"Living with Pernicious Anaemia and Vitamin B12 Deficiency" by Martyn Hooper

Has several case studies.

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

Very comprehensive with lots of case studies.

Also plan to read "Vitamin B12 deficiency in Clinical Practice" (subtitle "Doctor, you gave me my life back!" by Dr Joseph Alexander "Chandy" Kayyalackakom and Hugo Minney PhD.

Useful article from Dutch b12 website (in English)

Misconceptions about a B12 deficiency

stichtingb12tekort.nl/weten...

Some other good articles on above website.

Help for GPs

Might be worth telling GP or mentioning in a letter that

1) PAS website has section for health professionals. It is free for her GP to join as an associate member.

pernicious-anaemia-society....

2) PAS website has section with useful leaflets that PAS members can print out eg "An Update for Medical Professionals: Diagnosis and Treatment " that GP might find helpful.

pernicious-anaemia-society....

3) If your daughter joins PAS then she may be able to arrange for her GP to talk to PAS. She would need to discuss this with PAS first.

Warnings

1) B12 deficiency is not always well understood by GPs and specialists so it pays to be well prepared for any appointments. Do plenty of B12 homework as GPs and specialist may not have done

2) Some GPs are not able to cope well with assertive patients so be prepared for GP/patient relationship becoming very strained and have a back up plan eg another GP surgery to go to.

nhs.uk/common-health-questi...

sea55red profile image
sea55red

I was diagnosed with ME 14 years ago. Over the last couple of years I have had bowel cancer, operation to remove tumour and create a temporary ileostomy, chemo, radiotherapy, another operation to reconnect colon. Over the last few moths my health has deteriorated to the point where I have been barely alive. I have many symptoms of B12 deficiency. After several visits to GP and being offered counselling and mind altering drugs I was given a blood test and I believe my B12 was 170. I have had a course of 6 B12 injections, last one today. I am feeling much better but the throbbing burning legs come back about 27 hours after the injection. I am not scheduled for any more. I am trying to get more as I believe I should continue with them until my symptoms level out. I had a light bulb moment and have been in touch with the team at the hospital. They are getting back to me today. I saw a different GP on Monday who said my weal legs and inability to walk are down to depression. I am beginning to think that B12 may have been my problem all along. The nurse administering my B12 injection had a look through past blood tests and I was low B12 in 2005, when I was first diagnosed. Keep fighting. I have had 15 years of half a life. I have lost my career, my life and most of my teeth!

So much information here but it makes my head spin - I find it overwhelming. I am prepared to self inject if the hospital team can't get me more treatment but I am confused as to how to proceed.

Sleepybunny profile image
Sleepybunny in reply tosea55red

Hi,

"I am not scheduled for any more. I am trying to get more"

I hope you get the treatment you need soon.

Have you considered joining and talking to PAS?

PAS (Pernicious Anaemia Society)

pernicious-anaemia-society....

PAS tel no 01656 769717 answerphone

This next link is about "What to do" if you think you have b12 deficiency.

b12deficiency.info/what-to-...

Marz profile image
Marz in reply tosea55red

Sorry to read about your treatment. As you have an ileostomy then it is vital your B12 injections are continued. B12 is metabolised in the Terminal Ileum for its return journey to the liver for re-cycling. For you this will not happen efficiently. I had the Terminal Ileum removed when I was 27 but not told about B12. At 59 - back in 2005 - I was diagnosed with Hashimotos and my journey of learning began. I have been self injecting for several years now. I was living in Greece where you can buy OTC with ease and cheaply.

VitD would be good over 100 - do you know your level ? Also important to know your Folate and Ferritin levels. Low VitD linked to various cancers. grassrootshealth.net

Always keep copies of your results to monitor progress and check what has been missed !

Low thyroid can also be linked to gut issues as after the brain the gut needs the most thyroid hormone to function well.

Apologies to OP ...

sea55red profile image
sea55red in reply toMarz

Thank you for your reply. I have had a further blood test today for intrinsic factor and many other things that I can't remember so I will know in about a week's time if it is pernicious anaemia or just low B12. My ileostomy was reversed about 12 months ago but no doubt this is connected.

Marz profile image
Marz in reply tosea55red

Hope all goes well for you. Make sure they also tested VitD. It's good to obtain copies of all test results with ranges so you can monitor your own progress and also see what has been missed ! I believe IF tests can sometimes throw up false negatives ...

in reply tosea55red

Thank you sea55red for your reply. I welled up reading it. I'm so sorry you've been so badly let down. I was diagnosed in South India where I was living. They have a much better understanding of B12 deficiency as they are mainly vegan. My doctor knew straight away when I said I felt like lying down and dying what was wrong with me. I have an amazing GP who supports my self injection. I sat there yesterday and thought "why would this lady rather diagnose my daughter with ME than maybe consider B12 as part of the problem when there's such a strong familial history." I find it a bit perverse how some doctors seem intent on diagnosing everyone with depression. I'm feeling very disillusioned today. I hope you continue to improve. Sending lots of love to you x

Dickydon profile image
Dickydon

You should again, try your GP, but they’re the worst people to try to convince, as I’ve been down that road many times myself. They are almost programmed to the script, robotic comes to mind as to what and what not they say or even allow - which makes me not have faith in most GP’s anymore as well as some NHS specialists as the medical negligence compensation culture has proven they’re human as well.

If no luck, your best off private or at least purchase B12 as there are many on here do, and administer it yourself. B12 is harmless, so if the body has too much it’ll just be flushed out anyway.

Good luck!

in reply toDickydon

Thank you Dickydon, I just don't understand the reluctance of the GP to try. I guess all to do with funding these days. Your advice is very much appreciated 😊

Dickydon profile image
Dickydon in reply to

You’re welcome. I don’t get it with them (GPs) either! I understand they’re more pressured these days with the population growing like ants everywhere and not enough doctors to go around; but...

sea55red profile image
sea55red

Thank you for your responses. Brain fog is too bad for me to take any more in today.

Marz profile image
Marz in reply tosea55red

Small steps and one at a time ...💐

snowbird1234 profile image
snowbird1234

REmember to Always TRUST your GUT, the mother instinct... if someone will not look into other reasons, leave them, they will delay any solution and that could cost a LIFE!!

snowbird1234 profile image
snowbird1234 in reply tosnowbird1234

also I purchase my B12 from a Chiropractoer office.. i give myself a shot every 14 days, i also have low iron, so i take liquid and there are a little rules to follow with iron, we also need Vite C to absorb Iron..the body is complex

in reply tosnowbird1234

Thanks snowbird1234, I know, I intend on taking all the advice and information and making sure she gets the right treatment.

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