As part of our successful drive to grow and diversify, we’re pleased to welcome the Pernicious Anaemia Society (PAS) as a new partner of the Coalition.
Pernicious Anaemia (PA) is an autoimmune disease which causes the body to destroy a protein in the stomach called Intrinsic Factor. Intrinsic Factor is responsible for extracting B12 from food and sending it into the bloodstream to help produce healthy red blood cells. Without B12, blood cells become enlarged and can’t carry oxygen effectively to where it is needed. The symptoms range from shortness of breath, loss of balance and fatigue to confusion, depression, severe and irreversible nerve damage and even psychosis.
The charity was set up in 2006 by Martyn Hooper MBE and has 8500 active members worldwide. It seeks to raise awareness of the condition, support earlier diagnosis and provide information and advice to patients and their friends and family after diagnosis.
Martyn was diagnosed with PA three years after first exhibiting symptoms. He began to experience chronic tiredness which he initially dismissed as the consequence of getting older and leading a busy life, working as a university teacher and juggling being a mountain expedition leader, a drummer and a keen tennis player. Martyn described how the symptoms then began to escalate, “Eventually I lost control of my legs, I was doing all kinds of unprofessional things; hiding work, marking essays without reading them, screaming at post-grad students – I was just really at a low point.”
Despite MRI scans, nerve conduction tests and lumbar punctures, Martyn didn’t receive a diagnosis of Pernicious Anaemia, something which remains a common problem. In fact, 30% of PAS members waited 5 years or more for a diagnosis, with 14% waiting more than a decade.
Martyn eventually collapsed in the street where two ex-students found him and took him home. His sister, who was a nurse, took a blood sample from him in exasperation which finally resulted in his diagnosis of Sub-Acute Combined Degeneration of the Spinal Cord Secondary to Pernicious Anaemia. Initially, he was treated with B12 injections and put on a light timetable at work but, after collapsing again, he was forced to take early retirement.
The Pernicious Anaemia Society was borne out of Martyn’s initial boredom in early retirement. He told us, “It became obvious early on that there was a problem with the way this disease is diagnosed and treated, so I started the Pernicious Anaemia Society with its original purpose being to provide newly diagnosed patients with a plain English explanation of the condition, because when I was diagnosed it wasn’t easy to find out about it, even with the internet.
“It’s estimated that between 10% and 12% of the UK population is deficient in Vitamin B12 and the biggest cause of it is autoimmune PA, but they just aren’t being picked up. The current test for B12 deficiency is only about 40% accurate so it’s missing people and, even if you are found to be B12 deficient, the antibody test used to diagnose Pernicious Anaemia as the cause of the deficiency is next to useless.
“Early diagnosis is crucial to prevent nerve damage. My diagnosis came too late and, sadly, that’s very common. Misdiagnosis is widespread. I was diagnosed with MS, Parkinson’s, ME and Chronic Fatigue Syndrome because the tests are so unreliable. If it wasn’t for my sister intervening, I would be dead by now.”
So severe are the consequences of late diagnosis, that in 2014 the British Committee for Standards in Haematology produced guidelines which said that if the patient has got the symptoms but the test for B12 is normal, health professionals should ignore the test result and treat the patient to prevent nerve damage.
Prior to 1926, people with Pernicious Anaemia died from the condition, before the discovery that eating raw liver everyday could keep them alive, albeit with a poor quality of life. In the late 1950s, B12 injections were discovered but, as a prescription medicine, they are carefully regulated, which limits their availability and accessibility. Martyn said, “This is one of the reasons PAS wanted to become a member of the Coalition for Personalised Care. To me, personalised care means the treatment is provided according to the needs of the patient and that is just not happening.
“Patients used to receive an injection of B12 every month in the 1960s but that was changed to every two months in 1974 and then to three months in 1984. The biggest cause of problems for our members is not being able to get the treatment they need, leading to the symptoms returning, having a devastating effect on their lives.
“For example, I can’t do anything in the afternoon; I’ll slur my words and be unable to remember what I did. Some people manage OK with an injection every three months, others need it every day. It can’t be a one size fits all solution.”
Martyn hopes that by the Pernicious Anaemia Society joining the Coalition for Personalised Care, they can help effect change to get better, more person-centred, self-managed care for people with Pernicious Anaemia.
“In the history of the illness, no less than five Nobel prizes have been awarded for work on Pernicious Anaemia, but since the 1960s it has been a forgotten disease. There are huge problems with diagnosis and inadequate treatment.
“Three vials of B12 cost €1.14 in Europe so the vitamin itself is not the expense. It is the nurses time taken administering the dose which boosts the cost. Like hundreds, maybe thousands of patients, I now self-inject as and when I want and there’s no reason why the vast majority of patients couldn’t be taught how to do so safely. This would save the NHS so much money but, at the moment too many patients rely on the intervention of a nurse every three months. By the time people are allowed another dose, they are often dragging themselves to the surgery in a terrible state. It’s causing real harm to patients.”
The Pernicious Anaemia Society is working with NICE to develop new guidelines which hope to reduce wasted GP appointments leading up to diagnosis and address some of the issues relating to B12 injections. They are also spearheading an initiative to develop alternative delivery methods that may reduce the need for injections.
You can find out more about the Pernicious Anaemia Society here.