need to help my daughter with diagnosis... She is 28, and for 5 years has suffered numbness in toes and finger and optic neuritis twice. Originally we paid privately to see a neurologist due to waiting times and nothing abnormal was found, although he did state he thought MS!. I was diagnosed with B12 deficient last year after a collapse and other issues and have monthly injections (i know, lucky me)... anyway we keep chasing up with her gp and referred to a new NHS neurologist who arranged Brain and spine MRI, carried out in July, we are still chasing results, and I am getting very upset and angry. In the meantime with the knowledge that I have gleaned over the past year and the help of this site, asked my daughter to be firm with her GP and say they we believe she has B12 deficiency with absorption issues. He did blood tests and all came back "normal" even after stating she takes supplements. She is iron deficient and Vitamin D deficient too (this is being taken care of).
GP refused to do IF test due to B12 results of 524, and his words "well you are absorbing then"... at this point I wanted to cry. I now wish to put together a letter, copied to Neurologist to chase results from MRI and cc her gp and outline her story, and factually present a case whereby asking how they "prove" she absorbs.
I would be ever so grateful if someone could give me the facts in relation to being able to prove/disprove absorption of B12 so I can incorporate it in a letter.
I wish I could injection her with B12, as I sometimes do myself, but as she has not every had injections in a clinical setting, I would not attempt this. She did say to her doctor why do we not try injections and if she feels better, that in itself would provide evidence of the condition? he ignored this part.
He stated he would speak to a neurologist, no idea why? and a gastroenterologist about doing a biopsy!! really, is this necessary.... What else are we looking for.
She is exhausted, in pain and with numbness, and aged 28, it is heart breaking to see.
Any advice and factual information to pass to her gp would be so welcome.
The doctor is almost certainly correct - a serum B12 level of over 500 means there is almost certainly not an absorption problem. The only way you could now prove that there was such a problem is to stop all supplements for at least three months and get tested again. If the B12 level drops then there is no absorption problem - the high B12 is caused by the supplements.
The doctor wants to speak to a neurologist because your daughter's symptoms are, from your description, mainly neurological. So that sounds like a sensible move.
He wants to speak to a gastroenterologist because Pernicious Anaemia is a problem with the stomach (autoimmune metaplastic gastric atrophy). A gastroscopy can identify if there is gastric atrophy (restricted to the corpus and fundus) and biopsy samples can identify metaplasia. Tick those two boxes and you've got the basis for a diagnosis of PA.
Thank you for taking the time to respond. I am confused, my levels are high, yet I cannot absorb, I may have wrongly assumed, that although high levels in the blood, doesn't mean it is being absorbed/converted/used by the body? Please correct me if I am wrong? I want to write a letter with facts, and not make myself look silly!
I didn't finish reading, sorry! She has seen two neuros, still awaiting response from one 16 weeks and counting ... Would he arrange biopsy even though he states she is absorbing, that would be saying he is looking for an absorption problem? I think I am so upset after 5 years of waiting and using both private and NHS, I am struggling to see clearly now. I feel so lucky having monthly injections with no "formal" diagnoses of PA, yet assumed based on symptoms alone.
It sounds as if the doc is looking at all options. If there is an absorption problem then a gastroscopy would be a very good way of finding the reason for one.
If he is open to all possibilities I would definitely bring up the possibility of a trial of B12 injections. Can't hurt, might help.
Yes, she did ask for a trial of B12, but he has refused, I will add that into the letter though, as sleepbunny also suggested. I have the equipment at home, but would be very reluctant to inject her as I do myself.
From personal experience, I can vouch for it being possible to have severe B12 deficiency symptoms with normal range B12 results. I had most results between 300 - 500 ng/L and one result below range.
Majority of my symptoms disappeared or improved greatly once I started B12 treatment But I was forced to turn to self treatment.
I usually suggest putting queries about treatment and diagnoses into a brief, polite letter to GP.
My understanding is that in UK, letters to GPs are supposed to be filed with medical notes so hopefully harder to ignore than verbal comments.
I wrote letters and included some or all of the following
a symptoms list (all symptoms especially any neurological symptoms)
relevant test results (eg B12, folate, ferritin and other iron tests, full blood count)
relevant personal/family medical history eg relatives with B12 deficiency,PA, Coeliac disease, other gut conditions, other auto immune conditions
extracts from UK B12 documents
requests for relevant referrals to specialists eg neurologist/haematologist/gastro enterologist
"She did say to her doctor why do we not try injections and if she feels better, that in itself would provide evidence of the condition?"
Perhaps she could include a request for a trial of B12 injections in any letter?
Symptoms Diary
Does she keep a daily symptoms diary which tracks changes in symptoms over time and if and when any treatment is given. Could be useful evidence of deterioration or improvement in symptoms to show GP/specialists.
Have a look at letter writing link below which has useful suggestions and letter templates.
MPs and devolved representatives may be worth talking to if struggling to get recommended level of treatment.
May be worth drawing GPs attention in any letter to risk of permanent neurological damage including problems with spinal cord if untreated or under treated, See links below.
Guidelines above suggest that anyone with unexplained b12 deficiency shoudl be tested for coeliac disease.
"as she has not every had injections in a clinical setting, I would not attempt this"
Have you considered seeing a private GP/specialist although this is not a guarantee of better treatment?
It's possible to get blood tests done privately in UK so may be a way of getting IFA test.
"we are still chasing results, "
Under GDPR legislation , I think there is a time limit of 40 days (check this though) to get records to whoever has requested them. I think after this time limit is up there may be a case for formal complaint.
"What You Need to Know About Pernicious Anaemia and B12 Deficiency" by Martyn Hooper
Martyn Hooper is the chair of PAS (Pernicious Anaemia Society). BNF treatment info is out of date in this book. See BNF link in this reply.
Lots of B12 info in my replies on the the thread below eg symptoms, causes of B12 deficiency, B12 books, B12 websites, B12 articles/documents and a few hints about dealing with unhelpful GPs.
Thank you so much, excellent and informative reply. Yes I believe the way forward is to write a detailed and polite request to the GP. I will use a lot of information that you have shared with me. thanks again
Did you get a response and a diagnosis or treatment, or were you just left to treat yourself?
• in reply to
I work for a company providing medical reports for negligence cases, the business being owned by a retired GP. I cannot believe what just landed in my inbox.... a negligence case against a GP whereby lack of B12 injections left him with increased tinnitus and spinal damage. (facts to be determined) What I have read so far is a letter from a neurologist, who's words are "the vitamin B12 levels in your blood do not necessary correlate with the levels needed to maintain normal function of the nerves, so even if the blood levels are high, that is not an indication to reduce therapy in the future"
I will request full medical reports and will then proceed for an Expert Witness to prepare a report in this case and await the outcome. I am actually thinking of passing this case to my partner in the office, as feeling quiet emotional at the moment.
Obviously I cannot share too much, but will follow this case to the end!
I tried for several years to get treatment but each request for more B12 injections was refused. I had had one set of loading injections in past when a below range result was found , around 140 ng/L. IFA test was negative and I didn't know at the time that Antibody Negative PA is a possibility.
When I got to the point of dementia type symptoms and symptoms affecting my spine, I chose to self treat. I had over 40 different symptoms including multiple neurological symptoms and had got to the point that I didn't know how to carry on.
I was labelled as having severe depression, hypochondria, ME/CFS etc...what they didn;t seem to understand was that the depression was reactive; frustration that my many physical symptoms were preventing me from having the life I wanted to have.
I always tried to be polite, tried to get all the other diagnostic possibilities excluded, wrote letters to GP, asked for second opinions, pointed out politely that I had not been treated according to BNF and other guidelines when first had below range result, pointed out that my many symptoms were typical of b12 deficiency etc etc and I still ended up treating myself. Spoke to specialists both NHS and private and with the exception of one neurologist they all missed the diagnosis even though I asked every one of them. Even the one who thought it was a possibility didn't give a firm diagnosis.
Those close to me did not seem to understand what I was going through and when I was at my worst, I had no-one able or willing to fight the GPs on my behalf. I learnt a very hard lesson that sometimes, the only person who is going to help you is yourself.
I swore to myself that I would do everything I could to make sure others didn't go through the same experience hence the reason I'm active on this forum.
I did eventually get NHS treatment when I moved surgeries after having a bad experience eg got shouted at, told I cost too much money as I was persistent in asking for tests/referrals. Eventually pressure was put on me to leave.
I still have no firm diagnosis but an acceptance that B12 has greatly improved my symptoms. I need far more B12 than in the guidelines.
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... Would he arrange biopsy even though he states she is absorbing, that would be saying he is looking for an absorption problem? I think I am so upset after 5 years of waiting and using both private and NHS, I am struggling to see clearly now. I feel so lucky having monthly injections with no "formal" diagnoses of PA, yet assumed based on symptoms alone. 
Help re B12 and folate treatment please...
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