Personal Story

Jeannie Mackenzie

It’s tough to get a diagnosis of pernicious anaemia, but it’s tougher still to get it too late.

My story starts with my Mum. In her late sixties, something started to go wrong. She had depression, paranoia, and mild psychosis. There were physical symptoms – tinnitus, numbness in her feet and hands, pins and needles and pain on touch. She found it difficult to concentrate and lost interest in reading – something she’d previously enjoyed. She stumbled and had many unexplained falls, making her reluctant to leave the house. The usual suspects – heart disease and stroke – were ruled out. In the absence of a diagnosis, she was assumed to be malingering. Finally, after yet another fall, she was unable to walk and was admitted to hospital and then to a care home, about ten years after her first symptoms appeared. During a medical workup at the home, pernicious anaemia was diagnosed and she started treatment, but it was already too late to halt the neurological damage. The last 10 years she had little quality of life.

I hadn’t thought much about this until I began to experience similar symptoms early in 2021, just after I turned 70. I became unsteady on my feet, light headed and unusually fatigued. My toes became numb and some of my fingers became numb. When I walked, I occasionally veered suddenly to one side, sometimes having to prop myself up against a wall until I felt steady again. I found it hard to sleep as the soles of both feet became unbearably hot. Brain fog deprived me of the ability to do the things that interested me most. Heartburn and acid reflux became worse, and for the first time I experienced the distraction of tinnitus. Some days were much better than others and that is still the case. For a time, I tried to ignore the symptoms. Finally, I spoke to my GP who sent me straight to hospital, assuming I had had a stroke. I had what my consultant called a ‘full MOT’ i.e. lots of blood tests, X ray, MRI , CT, ECG, echo, carotid artery scan. Strokes and heart disease were not only ruled out, but it seemed I had none of the risk factors. MS was mentioned as a possibility, as was Parkinson’s but I didn’t seem to fit the criteria for those. I was referred to neurology, but advised that I was a non-urgent case and the waiting list was lengthy. The only firm findings were that I had peripheral neuropathy, and was anaemic. I was given iron tablets.

Doctors have a saying, ‘common things are really common’. While true, it can lead them to miss the rare diseases. One thing that helped me was that I already had a rare condition – Graves Disease, an autoimmune disease. I knew that if you have one autoimmune disease, you are likely to have another. I began to research autoimmune diseases, and discovered pernicious anaemia was one, and that there was a genetic component. I mentioned this briefly to one hospital doctor, who examined my tongue and said it was unlikely; especially as my B12 levels were normal. I mistook this as diagnostic and forgot all about it for a while, not least as my symptoms improved.

All the fruitless testing had made me feel like a helpless patient. I decided to get a grip, refuse to be ill and to toughen up. I even cancelled my referral for neurology. I just wanted to get on with my life. And then my symptoms came back, worse than before. The fatigue feels like a brick wall. This time I remembered what had happened to my mum, and found the Pernicious Anaemia Society website.

Last week I plucked up my courage, printed off a list of symptoms and helpful information from PAS about testing and took them to my GP. I told her about my Mum, and asked if my theory of PA could be looked at more thoroughly. I explained my fear that a late diagnosis would mean significant neurological damage that could not be reversed. She was wonderful, listening respectfully to my case and ordering a battery of more subtle tests, including intrinsic factor. We spoke of treating without a firm diagnosis by considering clinical factors rather than relying solely on blood tests. She’s reluctant at this stage to start such treatment, but hasn’t ruled it out.

I’m still awaiting a diagnosis, but I am grateful I haven’t yet reached the point where I have lost too much function. I try to pace myself, doing more on the days when I feel better, and resting between tasks. The PAS site is so helpful in understanding the process of diagnosis, and how inadequate it still is. I would advise others not to ignore symptoms.

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