I went to my appointment with the inherited metabolic diseases consultant, after waiting over a year for DNA tests, and having appointment altered because he was on sabbatical. Quite apprehensive because he'd told me "there's always a story" and because this is the last port of call for me in my search for answers.
How disappointing to find that he is still on sabbatical, and that the appointment was a colleague telling me they don't have my results back.
Also dieticians - again, and blood tested for liver function- again.
I was offered a telephone appointment once they had my results - but my partner told them this would not be possible for me, because of my memory and cognitive problems. So luckily, new consultant will see me again in a couple of months.
Incidentally, I did mention the Pernicious Anaemia Society's recent research trial outcome, and she read the newsletter about the results regarding evidence that some people need more frequent B12 injections. Her response: "..but you haven't got a Pernicious Anaemia diagnosis".
This is all very frustrating.
I was discovered to have B12 deficiency in February 2016, also low folate and ferritin and osteoporosis of the spine I was given injections: loading dose and then 1 injection every 3 months. Before very long, I was rapidly deteriorating. I was found to have raised consistently MMA (350-400 nmol/L - range of 0-280 nmol/L) even though my B12 was now reading >2000 ng/L. I was then diagnosed as having functional B12 deficiency, confirmed by laboratory. I was put back on loading dose of 2 injections per week for a long time, then deteriorated again.
Many tests and consultants later, I self-inject every other day and have done since September 2017 . It doesn't make me completely better, but it stops me getting worse. I am at the stage where I am seeing gradual improvements, but still have no entirely symptom-free days and still have blips for which I can find no reason.
I am a vegetarian with a B12- ,folate- and ferritin- rich diet, not that it makes any difference since I self-inject frequently and take a good multivitamin and mineral tablet daily plus D3 on prescription. IF (and I don't believe this to be true) this was ever a diet-related condition, that could not now be the case.
My main fear now is that my raised MMA will be written off as "my normal", I will be left undiagnosed, and so if anything eventually becomes available due to this new research finding, it won't be available to me. As far as I'm aware, there is no research or recommended treatment for functional B12 deficiency, beyond Talbot and Turner's "frequent injection" advice. I once showed this to a haematologist, to which she replied "..but look at the date." I think it was published in 2009.