I received a telehone call yesterday from a very distraught lady.

“I have been diagnosed as having B12 Deficiency” she said.  “I had six injections over two weeks”.

baby“Good” I said, “not everyone gets loading doses”

“But it’s my 11 month old baby that’s the problem” she went on.  “He wouldn’t eat, and wouldn’t wake up and didn’t seem ‘with it’ at all” she said.  “Then they discovered that he too was B12 Deficient and they gave him an injection.  He was a different baby the next day” she told me.  “A week after the injection they tested his B12 levels and they said they were fine,  that was three weeks ago and now he has gone back to how he used to be – sleeping all the time, not eating and not focussing on things.  What can I do?”

I could suggest nothing other than having a telephone call from Jane our nurse.  It is obvious that they are trying to monitor the baby’s B12 levels using the serum B12 test.  The mother’s appeal for her baby to have another injection is falling on deaf ears even though she recognises the symptoms returning in her child.

This isn’t the first case of Juvenile Pernicious Anaemia I have come across.  A few years ago a mother of two children joined the PA Society.  One of her children was 18 months old and his sister was four.  I asked the mother if she would consider taking part in the genetics study that was at the time taking place into the genetics of PA.  “I’ll have to talk to my GP” she said.  “I don’t really want them to have any more blood taken – they look like pin cushions as they are”.

We have two volunteers who are with us for the summer, both of whom want to become doctors.  On starts her A-levels in September while the other is just finishing her Medical Science degree and will be entering Post Graduate Medical School in September 2013.  Between them they are just finishing off information leaflets on Juvenile Pernicious Anaemia and Pregnancy and Pernicious Anaemia.  These will be available by the end of the month.