Martyn Hooper MBE – Chair of the PAS

~ The Chair’s Blog ~

A Family Affair

by | Aug 19, 2016 | 12 comments

Warning – this post may upset you (I know it did me).

Here we are, in the middle of a campaign to get the way in which Pernicious Anaemia is treated reviewed. We are getting somewhere, though progress is slow. Thankfully we now have two research teams looking at the treatment which, as we know, should be based on the patient’s needs and not the one-size fits all strategy that is now used – especially in the UK. Hopefully soon they will have some scientific evidence to back up the sea of anecdotal stories that we have regarding inadequate treatment.

The problem we are faced with is that for so many years patients with PA had no recognised patient body that could speak up on behalf of patients. That changed with the formation of the PA Society. Getting the way in which we are treated changed involves four distinct phases – AIDA which stands for Awareness, Interest, Desire and Action (it’s the basis of all buying behaviour). So far we have concentrated on the Awareness Raising. We have used case studies and surveys to provide evidence that there is a problem, a serious problem in this area. Thankfully, we are now engaging with medical professionals and other scientists who are Interested in looking into this issue.

One case study relating to individual treatment plans was sent to me a few days ago and it involves a brother and sister. I’m going to pass this on to you because it illustrates perfectly how the one-size-fits-all treatment doled out by various health boards affects not only the individual patient but the family as well. I’ve changed names for anonymity to be preserved.

Jane has been ill all of her life and has a long medical history. She has been seen by the following specialists:
Developmental paediatrician, Gastroenterologist, Allergist and Immunologist, ENT, Respiratory and Sleep specialist and a neurologist. Jane has a varying array of symptoms and has been given the following diagnoses over her lifetime:
Complicated Gastroesophageal Reflux Disease, Gastroparesis, Dairy and Soy Protein Intolerances, Food Induced Enterocolitis Syndrome, Sandifer’s Syndrome, Sleep Apnoea, Periodic Limb Movement Disorder, Sleep Myoclonus Parasomnia, Insomnia, Restless Legs Syndrome, Peripheral Neuropathy, Iron Deficiency, Neutropenia: I could go on but I’ll leave it at that. These issues have been treated with various procedures, surgeries and medications. But despite the number of specialists involved, there was no investigation into finding an underlying link to all of her conditions.

As the periodic limb movement disorder was so severe and not responding to other treatments, Jane was prescribed Clonazepam (a benzodiazepine, one of the most common names is Valium). This did not help to alleviate her symptoms at all. After a few months Jane was seen to have almost no B12 in her blood and she was described as having Pernicious Anaemia due to IF antibodies. After the initial loading doses, Jane has stayed on a weekly B12 injections and has responded well to this. Her movement and sleep disorder symptoms have significantly improved, as the underlying cause (B12 deficiency secondary to Pernicious Anaemia) was being treated. As a result, she began weaning from the unnecessary Clonazepam.

Unfortunately, Jane suffered badly from the withdrawal symptoms when the benzodiazepine was slowly reduced, and her physician advised to not reduce the medication again until the withdrawal symptoms alleviated. Unfortunately, so severe was Jane’s withdrawal symptoms, that lasted over two months, that this has now been increased to a twenty week weaning period where the drops of the drug she receives will be increasingly diluted until she receives only water.

Jane has a brother called Jim. Jim has also been diagnosed as having Pernicious Anaemia. While Jim also has gastrointestinal and balance/coordination issues due to Pernicious Anaemia, his most severely presenting symptoms involves his mental health. Jim is still suffering from the symptoms of Pernicious Anaemia even though his B12 deficiency has been corrected. Jim did improve dramatically when he first had his B12 injections and even though he has developed a bank of coping strategies he still suffers from the symptoms of PA. His doctor prescribed a course of loading doses and then he was put onto a three monthly regime. However, after six weeks his anxiety kicked back in significantly so his doctor prescribed another jab. Immediately his anxiety, low mood, and perfectionism to the point of obsession improved considerably. However, after just three weeks his emotional dysregulation became apparent again, he had low self-worth and was increasingly angry. He got so low that he began telling people he wanted to kill himself, the he didn’t want to be here and it was all too hard. He began punching his head saying that his brain is stupid because he couldn’t remember anything. Jim’s doctor prescribed an injection every two weeks.

Jane is two and a half years old; her brother is five.

Here’s what their mother told me.
“The day after Jim had his injection he woke up a different child. I wouldn’t have believed the dramatic difference if I hadn’t seen it with my own eyes. He bounded out of his room with a smile on his face, exclaiming “I can’t believe how one needle can make me feel so much better”. He said his favourite day is Wednesday as he gets his needle, and was disappointed when I told him his was every two weeks not weekly like Jane’s because it makes him feel so good. I love that he can see the worth in it as it’s not a struggle at all to get him (or Jane) to get their injections”.

Jane and Jim’s mother is a health professional. Here’s what she added:

“It’s absolutely insane to see the difference a vitamin makes first-hand to not only so many bodily functions but also mental health. Myself and the two kids all present so differently with the same condition. It just made me reflect on my own work practices and keeping in mind that this kind of thing (B12 deficiency in particular or other deficiencies in general like vitamin D, iron, magnesium which can also impact on mental health) could be going on for many of my clients, and how the manifestations may present differently depending whether a child or adult. And to be particularly mindful if a client has other Comorbid medical issues too, that will be a red flag for me that a full medical work up is warranted”.

So, think on this. Imagine if the mother and her two children were faced with a doctor who would refuse to give them more frequent injections than the usually prescribed 1mg every three months. Think of how that would impact on the patient and the family. Thankfully through the persistence of the mother who used a combination of observations, tact and diplomacy the neurologist treating the family has prescribed treatment based on the individual patients’ needs.

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  1. Mary Epke

    Yes it makes my blood boil ! Yes it makes me cry also . This mixture of mad and sad is truly awful . I want to go and hit somebody HARD. But WHO? It’s truly unbelievable in this enlightened age that such things happen . It could have been me. But I found out about the PAS , and what a wonderful help I have had. I have a computer which makes everything so much easier as well . Can’t thank Martyn enough for all he does and he is also a victim of PA , which doesn’t make it easy for him or his wife . Yes I think of you also Mrs Hooper, and thank you too !

  2. Dave Jones

    I suffered the torments of the damned for almost 20 years. I lost my marriage, my family, my home. Numerous jobs lost and relationships failed and I was committed to psychiatric hospital twice and even attempted suicide. I was diagnosed with everything from manic depression to multiple sclerosis. I had scans, lumbar punctures, EEG’s and tests galore, month after month, year after year.

    Finally after my umpteenth TIA and another clear MRI scan I was referred to yet another neurologist, a young fellow it turned out, who after a long pause said to me “I know exactly what’s wrong with you, you have B12 deficiency.” He was so certain he bet me his next months salary. Another blood test confirmed B12 deficiency and a regimen of injections began and it turned my life around. However, it is not the fact that I was misdiagnosed for so long that angers me, it is that fact he was the first and only one to recognize that B12 deficiency and abnormal blood cells and liver enzyme problems had been showing up in my blood tests from day one and no one joined the dots!. I now have an injection every three months from my doctor but it is nowhere near enough. They are still not listening to me. I have to self inject a minimum of every two weeks. Irreparable damage has been done and I still suffer numerous issues but I can at least got on with my life now.

  3. Josee Hawkins

    My grandfather died eventually from the effects of PA around 1938. He suffered from “anemia’ all his life..or so they thought. He took tablets called “Fersolate” most of his life and they seemed to have helped a little. He had no sense of taste. Four of his seven children died with mysterious symptoms such as now are associated with PA. One is said to have started to scream when a train went by and didn’t stop screaming for two days and nights and then died. My mother suffered as an infant with “wasting disease” and was force fed raw liver as a child..the only medication available in the early 20th century. She gradually succumbed to the illness as the new young doctor in England who took her symptoms seriously diagnosed her only after years of misdiagnoses, to prevent major nerve damage. The lack of fingerprints is an inconvenience for my daughter and myself. I am lucky that I live in the USA and I can buy B12 patches over the counter and B12 sublingual tablets also over the counter. Doctors rely on blood tests which don’t always show the deficiency, but self help is a great thing! There is more information, but this is not the space for that.

  4. Clivealive

    Oh my word – this “story” needs to go viral.

    Can I block/copy it onto my Facebook page?

  5. Gambit62

    So glad to hear that patients so young are actually getting the B12 that they need. Can really relate to John’s story have wrestled with depression and anxiety for 40+ years until I finally started treating myself with the doses that I really need. I really didn’t believe that the depression and anxiety could be related to the B12 deficiency at all so it was a real eye-opener when 3 months into treating myself I realised that they were gone. How different my life would have been if I’d been put on B12 aged 10 rather than an antidepressant (suspect it was valium … which I would spit out the window when my mother wasn’t looking).

    Think AIDA goes with being assertive rather than bullying 🙂
    Might feel as if you are having to be a bully but awareness is generally something that bullies totally lack.

  6. Petra

    Clive: just click on the blue F left of this post and it will take you to a Facebook share app.

  7. Valerie Tull

    What an absolutely awfully sad story. The poor mother being a health proffessional, would be frustrated and disapointed in her colleagues, maybe loosing faith. I was not aware young children could inherit this awful illness. Over the 20 years, I have had PA, I have heard people talk of this illness, and being ‘struck’with B12 deficiency or PA. the age of these people were younger and younger, I thought we were as humans evolving. But, it seems the illness could be hereditary!!
    Surely this will benefit the medics, as they should now look at young children born to PA parents, could also be effected by this illness and look toward, helping the children and not allowing children suffer like Jane and Jim, by testing their blood FIRSTLY> Please.

  8. Gina Bown

    Very upsetting made me cry

  9. Carolyn

    So so sad that in this day and age there is still so little known about b12 and people everywhere are suffering.
    Thank goodness for the PA Society and Martyn

  10. Jane

    One wonders if the little girl would have gone on to develop behavioral issues like her brother once she got a little older. I actually teared up because, as an adult, I actually started hitting my own head when my b12 was lowest. I was also suicidal.

    Putting a toddler on benzos sounds insane, frankly. Seems extremely risky. I was put on antidepressants when young, and the withdrawal was so difficult that the weaning took YEARS. During this time my b12 deficiency symptoms worsened precipitously, and I have not gotten back to normal.

  11. Rosamund Adrien

    Such a moving story, especially so, given their ages. It is surprising that they survived their adult experiences. Disturbing to note, however, that if the mother was not a health care professional herself, the children may have continued to suffer the consequences of the misdiagnosis of the medical professionals with the ultimate unnecessary sacrifice of their lives.

    Personally, I was born without the intrinisic factor and was diagnosed very early with PA, thanks to a doctor who worked at Great Ormond Street and Royal Free Hospitals. My parents were told that I would not survive the night as the doctors did not know what was wrong with me. Thanks to Dr Dormondy, who decided to carry out a test, I am here today, 60 years later. I have been told that when I was around 18 months/two, that I would be blown over in the wind because I was so weak and I always work a long sleeved cardigan in the summer, because I would always be cold. None of my family nor children have been diagnosed with PA yet some doctors have mentioned that it could be genetic. Is it hereditary or not? I have yet to establish. Perhaps this site with enlighten me.

  12. Ann

    I have had similar issues to both of the siblings above throughout my life. I began developing severe mood disturbances, tinnitus, fatigue, and tremors in the low 400s pg/ml. I had full neurological symptoms by the low 300s. My diet was very rich in b12. My doctor gives me 1 shot a week of 1000mcg Cyanocobalamin but it’s not enough.

    I have an identical twin. She has never had the extent of health issues that I do. She very briefly developed low b12 due to diet. She complained of fatigue only, and he doctor tested her b12 and it was just around 150 pg/ml. She had no neurological problems. She had a course of injections and all was solved.


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