Some of the saddest cases of under-treatment and misdiagnosis among sufferers of Pernicious Anaemia involves children. There are numerous issues associated with children or young adults who develop the condition. We know that the usual health service treatement of PA is far from satisfactory because it is based around serum B12 levels and that these levels do not explain what happens at cell level and high serum B12 levels do not mean that all symptoms disappear. And we know that patients who are still symptomatic after replacement therapy has started can make adjustments to their daily life in order to cope with the condition. I know of many members who ‘hide’ in the afternoons when their symptoms return. They stare at their computer screens and hope nobody notices that nothing much is going on. Or they sit staring at the same piece of paper not quite knowing what to do with it. Others negotiate with their employers so that they start work earlier and finish earlier in the day. All kinds of negotiations can be made in order that the sufferer can cope with the condition. In some cases, the sufferer will have to take early retirement or a change of career in order to manage the disease.
Imagine these problems being faced by children or young adults. If they are diagnosed and receive the three-monthly injection of Hydroxocobalamin or monthly jab of Cyanocobalamin they are forgotten. That’s it. The treatment is handed out and nothing more is done. Yet if the child remains symptomatic (which is highly likely) no allowances are made for the disfunctioning of the child in the afternoons – or in the worst cases during all of the day. And because the medical profession will tell the parent that there is no reason why the symptoms should be present because the serum B12 level is within the reference range the teaching profession, and in some cases the parents, will attribute the lethargy, the unenthusiastic response to requests, the lack of concentration and need for isolation as being due to ‘behavioural problems’. The child is often referred to an educational psychologist and usually labelled as having ‘behavioural problems’ – a label that will haunt the child during his or her education.
I have been involved in acting as advocate for three cases of Juvenile Pernicious Anaemia. It’s easy to blame the medical professionals for not listening to the child and parents. The total reliance on serum B12 to diagnose and monitor the patient is only now being called into question and the vast majority of doctors see no reason why any patient should be still symptomatic after serum B12 levels have been restored to within the reference range. When I have been involved the parents are able to tell when the child’s symptoms are returning and ask for him or her to receive an injection. This is refused because if the doctor concerned tests the level of serum B12 and if that level is anywhere within the reference range (even just one point above the lower level) then the child is deemed to be not B12 deficient. It is only in the rarest of cases that a monitoring test like this is done. Usually the doctor will remind the parent that the three monthly or monthly injection is perfectly adequate and that the child is obviously “playing on it”. Whereas an adult is then routinely offered anti-depressents the child is often referred to a behavioural therapist.
It is a disgrace. Our youngest member is 18 months old. His brother, aged 3, is our second youngest member.
Last week I received an email from the Royal College of Paediatricians and Child Health. It asked if the society would be interested in participating in a Research Programme into the causes and effects of Juvenile Pernicious Anaemia. I have replied that I would very much like to be involved in this complex area. Thankfully Pat and Ian have offered to produce a Briefing that I can use to take this forward. If anyone else would like to get involved please get in contact with me – any offer of help will be a great help.