Personal Story
Susan
At my very worst, two and a half years ago, I moved out of the bedroom I share with my husband and into the spare room, because I was waking in the night and would spend hours scouring the internet for answers as to what was wrong with me. Every night getting to sleep was a challenge, but waking with frightening electrical sensations radiating down the backs of my legs was much worse. The only way to describe it was like being plugged into an electrical socket. I also had pins and needles in my face, hands, shins and feet, numbness and weakness in my left hand, forearm and toes. My shins and hips were hurting, so I could only lie in one position in bed, on my back, with a pillow under my knees. I had very loud tinnitus and I had to borrow my husband’s glasses because my vision had become blurred. These symptoms all came on suddenly, just as the hip pain and stiffness in my thighs that I’d had for the past 8 years, had come on suddenly. There was no real explanation for my hip pain and stiffness. It baffled various physiotherapists and muscoskeletal specialists and it had slowly got worse and worse.
During the daytime I was walking with a limp and for no apparent reason, I’d fallen over in the street. I had to give up the gym classes I loved because my body just wouldn’t do what I wanted it to. I’d lost a lot of my range of movement. I was incredibly stiff and in pain. I was dragging my lumps of lead legs that used to walk for miles, behind me. I could no longer look after my grandchildren on my own as lifting, carrying and walking was too much for me. I just didn’t have the strength and the waves of fatigue I’d experienced for years, were now overwhelming me.
My GP couldn’t find reflexes in my knees or ankles and noted reduced sensation in my lower legs. I asked about B12 deficiency and for the first time in my life I was given a blood test which came back as normal – 267 (lab range 200 – 900). There was a year-long wait to see a neurologist so I saw a neurologist privately and whilst he said I didn’t have MS, he also said I didn’t have a B12 deficiency. He said I needed to ‘turn the volume down’ on my nerves and he prescribed the anti- epileptic drug, pregabalin. Ironically, pregabalin inhibits the body’s absorption of B12. And so the nightly research continued as I didn’t really understand what turning the volume down meant, I was very worried, wasn’t happy taking medication, especially when I wasn’t even convinced by the diagnosis and I ended up paying privately for nerve conduction studies and EMG as well as a brain scan – none of which explained my symptoms.
One of the GP’s at my surgery agreed to all the tests I asked for that could be offered on the NHS. So, things like lyme disease, lupus and coeliac were ruled out and my nightly research kept coming back to B12 deficiency. When I discovered the PAS website I re-read the personal stories over and over as I could so easily relate to them. The website gave me the tools and the confidence I needed to write to my GP and argue the case for being tested for MMA and homocysteine. Ironically, I had requested these tests at my first appointment, but nothing came of it because of my ‘normal’ serum B12 of 267. This time, however, I was armed with NICE guidelines and I had educated myself so I knew more than the GP’s at the surgery (which, I have learnt, is very sad, but not uncommon).
My MMA came back very high and my homocysteine was at the top of the ‘normal’ range. My B12 had by now dropped further to 255. My GP text me to tell me I had a functional B12 deficiency and I would receive loading doses of hydroxocobalamin. At long last I had a diagnosis and I was looking forward to the treatment.
Unfortunately, after loading doses I was told that I was to go onto injections every three months. I knew this was wrong as NICE guidelines say that those with neurological symptoms should continue with injections every other day until there is no further improvement. My vision was no longer blurred and my pins and needles had lessened a little but my neurological symptoms were still badly impacting my mobility and I still couldn’t walk far or do gym classes. And so, I argued with the GP, but unfortunately this particular GP believed that too much B12 is toxic for the liver and, as she put it, “you don’t even have anaemia” I went back to see the neurologist naively thinking that he would write to the GP and inform her of the NICE guidelines. He didn’t. He told me that B12 deficiency wasn’t causing my neurological symptoms and that I had dysautonomia. He looked up my MMA level whilst I was in the consultation with him – it became very clear to me that he knew nothing about MMA and was just as ill-informed as the GP about B12 deficiency. I still can’t get my head around this. B12 deficiency can cause terrible irreversible nerve damage so, in my opinion, all neurologists should be considering B12 as a diagnosis and should know NICE guidelines backwards.
By this point I knew that If I didn’t get the treatment I needed, I could end up with irreversible nerve damage, so I paid privately to see a B12 specialist. What he told me was both liberating and very upsetting. He said that I had all the classic symptoms of B12 deficiency and that I had one of the highest MMA levels he’s ever seen, meaning that I’d had the deficiency for a very long time. He said that it would take a long time for me to get better and I would get worse before I got better. This is called reversing out as the nerves heal. And so, more than two years since I went to my GP and the neurologist and asked both of them whether it could be B12, I was finally in the hands of someone who actually knew about B12 deficiency and could advise properly on the treatment I need.
I now self-inject twice a week. Thankfully, my GP surgery is supportive and has agreed to prescribe the B12 ampoules. Four months on and I am seeing improvements in my symptoms, although the improvements aren’t linear and symptoms get a bit better and then a bit worse again and so on (two days ago my legs felt ok – there was a mild tingling and a little stiffness but not too much pain. As I write, my knees, shins, calves, hamstrings and thighs are stiff and painful and two toes on my left foot are numb again) I believe this is the reversing out process, but sometimes I’m scared that I have permanent nerve damage because there was such a long delay in diagnosis and treatment. I’m having a whole spine and brain scan in two weeks-time to check for lesions and subacute combined degeneration of the cord.
It is clear to me now that I had been having many symptoms of B12 deficiency over many years. My symptoms may not all be attributable to B12 deficiency, but I think most are on the checklist. I’ve left some symptoms off my list as I believe other things may have caused them. When I look back, I can see how the illness has crept up on me over the years and how symptoms have changed and come and gone. I think neurological symptoms progressed more rapidly in the last ten years because of a combination of severe IBS, over doing it at the gym and getting older. I was 51 when I developed the sudden hip pain.
Symptoms
20 – 30 years ago
- Severe IBS that lasted for around 5 years until I went on a strict dairy free diet
- Persistent sore tongue with painful ulcers
- Brittle nails
- Periods of anxiety and low mood
- Sudden fatigue/falling asleep in cinemas, theatres, watching TV
- Poor sleep
- Vitiligo – autoimmune conditions tend to cluster
10 – 20 years ago
- IBS on and off
- Brittle nails
- Periods of anxiety and low mood
- Sudden fatigue/falling asleep in cinemas, theatres, watching TV
- Poor sleep
- Heart palpitations
- Vitiligo
Last 10 years
- Severe IBS
- Hip pain when walking and laying down on my side
- Stiffness in thighs after sitting or driving
- Cramping toes
- Periods of low mood
- Sudden fatigue/ falling asleep in cinemas, theatres, watching TV
- Poor sleep
- Heart palpitations
- Vitiligo
Last 2 -3 years
- Severe IBS
- Worsening hip pain
- Worsening stiffness
- Loud tinnitus
- Blurred vision
- Altered colour vision
- Pins and needles to feet, shins, hands, face, trunk
- Knee pain
- Difficulty walking/limping/ legs feel like lumps of lead/fell over in the street
- Painful shins
- Brittle nails with vertical ridges
- Weak left hand and foot
- Muscle loss to left arm and leg
- Some loss of sensation and reflexes to legs, particularly left leg
- Numb toes
- Numb left forearm
- Periods of low mood
- Fatigue
- Poor sleep
- Heart palpitations
- Poor blood sugar control and lipid metabolism (may not be on the check list but can be associated with b12 deficiency)
- Vitiligo
I tested negative for intrinsic factor and parietal cell antibodies and I’m fairly certain that my B12 deficiency has been caused by IBS and that my IBS is due to gluten intolerance, if not full-blown coeliac disease, but neither are diagnosed – I had been avoiding gluten when I was tested for coeliac disease and I now know that you should include gluten in two meals a day for 6 weeks up until being tested otherwise you risk a false negative (Coeliac UK) I’ve now been referred to gastroenterology.
As far as I know, no one in my family was ever diagnosed (or tested for B12 deficiency). However, I now believe that both my paternal grandad and my dad may have had the illness. My grandad died before I was born of MS – he could have been misdiagnosed. My dad died of dementia. When I think about my dad’s illness it follows a similar pattern to mine. He suffered from tinnitus and IBS and he believed that bread made it worse, he developed hip pain which affected his mobility so much so that he could no longer pursue his hobbies. My brother has pain, nerve symptoms and mobility issues. After many years of being told that there was no obvious reason for his symptoms, he was finally given a diagnosis of fibromyalgia. He has never been tested for B12 deficiency. I’m trying to educate all my family because I do believe that we may have a family history of this illness.
One final thing I want to add is that before my diagnosis of B12 deficiency, my GP referred me to rheumatology. Without seeing me rheumatology wrote back and said that I likely had fibromyalgia. If I’d have believed the rheumatologist or the neurologist who said my neurological symptoms weren’t being caused by B12 deficiency, and if I hadn’t pushed my GP for MMA and homocysteine testing, I believe I would have remained undiagnosed for the rest of my life.