DNA RESULTS - out of options ?

[Cherylclaire]

I have had my DNA results after a 2-year wait.

Only two variants found, of uncertain significance:

- MTRR (1102G>A): heterozygous - so considered as a carrier and harmless

- MTHFR (1073G>A): heterozygous - so considered as a carrier and harmless

- Homocysteine and methionine normal.

Slightly elevated MMA (c 350-400 nmol/L with range of 0-280) is considered either:

- Increased propionic acid uptake

=SIBO (tested in Oct 2017- and found inconclusive: either SIBO / IBS)

or

- Normal variation (for me) - so not a health problem

Pernicious Anaemia has not been excluded despite a single IFab test which was negative.

Summary:

Methylmalonic acidemia not confirmed (but other undetected molecular causes mean it remains possible).

Considerations for ongoing care:

Unable to give advice re frequency. Also no evidence that current regime is harmful or must be reduced.

..so at least there's that !

Otherwise totally disheartened after 5 years of trying to get answers -

but consultant very apologetic:

she was also clued up - and aware of failings of IFab test, knew about Martyn Hooper, PAS, recent research and early results... in fact suggested Pernicious Anaemia Society as a good source of support (!) - and said that I could phone/ email her and sent report copies to me and GP.

Liked her a lot. Still couldn't help feeling that I've reached the end of the line with no conclusion. Nothing left to test.

Only one appointment left: Oral Medicine in February - who have been trying to grow bacterial cultures from my angular cheilitis- and who have seen photos of tongue and mouth at real photogenic lows !

Down not out.

[Leils]

Sorry to hear there is no concrete info to go on.

Good that you have had supportive and aware professionals though.

Are you still on alternate day jabs? How are you doing generally?

You were so kind when i first posted. Really appreciated that.

I'm a fair bit better now. Still on alt days.

MMA showed B12 isn't getting through as it should be and I was low on B2 as well.

On we plod x

[Leils in reply to Leils]

Oh and I find B2 helps with my mouth corner cracks too.

Do you eat dairy?

[Cherylclaire Forum Support in reply to Leils]

Thanks, Leils .

Glad to hear you are responding positively to injection regime: keep it up, I'm sure there are more improvements to be had !

How high is MMA now ? Is it going down at all yet ?

Generally speaking, I have made slow improvements over 2+ years of self-injecting every other day- so much so that I have reduced them now to around 2 a week, depending on how I'm feeling and what I have to be able to do. It seems to be working but early days. Bloods are looking better than they have done for 5 years although finding it impossible to get ferritin up to 80 umol/L , as per Oral Medicine consultant's wishes, so 59 will have to suffice. Will see if he has found out anything by next month.

I do take B2 (riboflavin) as part of my daily multivitamins and minerals. Sore, splitting and bleeding mouth, large white-coated tongue with burning red sides and sore red throat are clearly visible indicators of my general health, as are bleeding gums, loose teeth and hair loss - usually mean that folate/ferritin have dropped again despite supplements and diet.

You get so used to minor chronic symptoms that they become your"normal" over years. Memory impairment, cognitive difficulties and mood-swings are far more concerning. These are the symptoms that would dictate injection frequency for me.

Air-hunger yawning only a real problem when combined with splitting corners of mouth: yowch !!

[Leils in reply to Cherylclaire]

Sorry didn't reply. Brain AWOL, as per!

This was my first MMA. Had to do it privately as GP didn't know anything about it. Certainly no sign of an improvement as it shows even with alt day injections I wasn't getting quite enough B12. (Or B2, which is why I suggested it). I've upped the B2 a bit and had a bit more energy. Also taking coenzyme q10, n acetyl carnitine and d ribose as suggested by func medic and that helps too.

What you say gives me hope tho. Also being able to reduce to 2 a week. That would be good but I'm not rushing and like you say, when busy you just really need it the B12.

Have you been tested for thrush / Candida? The white coating you mention. Also coeliac disease with mouth ulcerd. Do you eat gluten free diet?

[Cherylclaire Forum Support in reply to Leils]

No problem, Leils -

Hope this finds you improved.

Went to Oral Medicine consultant yesterday - symptoms a little bit worse this time because it's now been 6 whole days since last B12 injection. This was deliberate- because he was very concerned about my frequency (alternate days) the first time I saw him, and also he wanted my ferritin up to 80 ug/L, so I double-dosed that for months, and still came in a bit lower than before !

Wanted him to know that I'd been trying and really think he got that. So mouth really bad today, but trying his suggestion (nipple cream) and hoping that this will help with the swab that he took yesterday.

I feel that I've done all that I can and now I'll wait and see if culture produces any results. Will see him again in about 3 months although he will contact me if culture gives results this time - and meanwhile, cracking on with the nipple cream !

Coeliac was "100%" ruled out a good while back. Never actually get ulcers, just burning, redness, bleeding cracks.

Less apprehensive about experimenting with reducing injection frequency now, although aware I'm pushing my luck now (- or rather partner has made consultant aware !)

Stay well

[Cherylclaire Forum Support]

Will let you know.

Good to hear a consultant that is recommending PAS support, though, don't you think ?