Martyn Hooper

The ‘Fun in the Sun’ Festival held in Porthcawl, in south Wales was not the roaring success that it promised to be. Whilst it didn’t rain for two hours on Thursday (notice I don’t mention the sun) for the rest of the day we spent dodging the heavy and frequent showers. Friday was a little better with the sun bursting through the clouds for a total of around two hours. Saturday was an excellent day with mainly unbroken sunshine and that ensured that we were kept busy. Sunday was a washout and, with heavy rain predicted for today, we have decided to not to man the stall.
Fun in the Sun morphed into Pain in the Rain.
My thanks to Aaron, Alice, Abigail, Cheryl, Sue and Fiona for their help and enthusiasm. I’m sure we made a difference.

It’s always the Grandmothers. The three cases where I have been involved in cases of Juvenile Pernicious Anaemia have all been instigated by the grandmother of the child who is having problems. It happened again on Saturday at the ‘Fun in the Sun‘ show in Porthcawl, South Wales.
We were handing out our ‘Could You Be B12 Deficient’ checklist when a lady walked past pushing a pushchair. She was accompanied by her mother and a young girl of around 8 years of age. They hesitated, said a few words to each other and then walked back to our stall. The young girl had a shock of red hair and…..deep blue eyes.
“Can kids get Pernicious Anaemia” asked the grandmother.
“Oh yes” I replied. “Why do you ask”?
“Because I’ve got it” the gran replied, “and she has almost all of the same symptoms as me”, she said, pointing to the young girl who was starting to be embarrased.
I ran through the symptoms on the checklist with the young girl. She had all of the main indicators – brittle ridged nails, constant tiredness, the ‘sighs’ and, even more worrying, balance problems.
I asked the young girl if she became tired in the afternoons and she told me that she did and that every day, after arriving home from school, she had to sleep for two to three hours. She told me that she found it difficult to concentrate on her schoolwork in the afternoons and that her teacher had labelled her “Lazy Lucy”.
The Grandmother stared at me with her big blue eyes and her daughter listened with her blue eyes wide with disbelief.
“I thought it was an old woman’s problem” said the Gran. “That’s what my doctor told me”. I assured her that it was possible that the young girl had inherited the problem from her mother who insisted that she had none of the symptoms.
I advised that the young girl should be taken to her GP and ask for her B12 levels to be tested. The Grandmother assured me that she would do so as a priority. The mother was insisting that she had none of the symptoms and I agreed that she didn’t tick any of the boxes on the checklist.
Not yet anyway.

I took a telephone call on Thursday. I was in the office on my own when the call came through. Nothing unusual in that other than it was quite early - 8 am and that the caller was an elderly Australian gentleman calling from his home country. The gentleman was seeking information about B12, wanted to know more about the symptoms and enquired about any alternatives to injections.
He was not a member and admitted that he would never be able to use a computer and access the internet. He was originally from Scotland and had been sent a copy of the article on Andrea by his sister.
He was an easy going gent with one of those unusual accents that had a broad Scots dialect as its base iced over with the Australian timbre. I gave him all the information he needed and wanted and then the conversation drifted and we started talking about cricket, the state of the world economy (and banking in particular) and I found out that he was a great supporter of Lady Thatcher. He was positively delighted that he shared a vitamin deficiency with the Lady.
We have these really neat telephones in the office that display how long the telephone conversation had lasted. Fifteen minutes had passed, then thirty and as we passed the 45 minute point he asked a rather strange question.
"So where exactly are you in New South Wales?"
"Oh we're not in New South Wales" I told him. "We are based in old south Wales - in the U.K."
The phone went dead.

I admit confusion! I received a reply from the Department of Health regarding Swine Flu and patients of Pernicious Anaemia. I had sought clarification as to whether or not patients with Pernicious Anaemia should be regarded as an ‘At Risk’ group. I had thought that, because PA is an autoimmune disease that is associated with other autoimmune diseases that we sufferers have problems with our immune system that can affect how we respond to Swine Flu.
The answer that I received seems to contradict the official advice of staying away from your GP if you suspect you have Swine Flu. The advice states that it would be up to the individual GP to determine whether the patient is ‘at risk’; but that would surely mean a visit to the doctor so that he or she could assess the patient. All very confusing……

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.