I understand MTHFR, need help interpreting other mutations

[larisa]

Hi, I have done a LOT of research on MTHFR (and am overwhelmed as it is) I am hoping that someone could help me with the things that are simply over my head.

I have been symptomatic for 11 months. They symptoms presented VERY suddenly, almost night and day. Some I have managed to get control over but the pain is the only one that persists no matter what I try. WHAT AM I MISSING???

Symptoms I have had:

• Brain fog (mostly under control)
• extreme fatigue (mostly under control)
• depression and apathy (comes and goes)
• problems with short term memory (kind of under control)
• attention difficulty (comes and goes)
• muscle pain and tightness (still very present)
• Joint pain (comes and goes)

I am homozygous:
MTHFR A1298C (under treatment for)
BHMT-08
CBS A360A (which is weird because I have low ammonia, didnt have trouble on methylfolate protocol and/or sulfur supplements like NAC)

Heterozygous:
COMT V158M
COMT H62H
VDR Bsm
VDR Taq
MAO-A R297R
BHMT-02

Supplements I am currently taking:

• Metanx (L-methylfolate: 3 mg, P5-P 35 mg, Methylcobalamin: 2 mg) (dosed increased very slowly up to this point)
• Vitamin D emulsion (6,000 IU--I am pretty deficient)
• Magnesium (as magnesium bis-glycinate) 200mg
• Mitochondrial restore (zinc, Acetyl L-carnitine, L-ornithine, Alpha Lipoic Acid, NAC, Quercetine, Arginine Alpha-Ketoglutarate, L-Citrulline, L-Methionine, Resveratrol, Co-Q10)
• L-Glutamine (1500mg)
• Strong Probiotics
• vitamin C
• Vitamin E
• Did a really intense 10-day detox cleanse with a colonic a day

Have taken in the past and did not help:

• L-Ribose
• fish oil (high quality)
• Neuro-transmitter support that contained:
  • Choline Citrate....................100 mg
    L-Methionine.......................400 mg
    Taurine..............................300 mg
    Trimethylglycine (TMG)........500 mg
    Methylcobalamin..............1000 mcg
    Magnesium..........................100mg
    Phosphatidyl Serine.............100 mg
    Huperazine A.....................200 mcg
    Niacin (niacinamide)............500mg
    Inositol Hexanicotinate........500mg
    P-5-P (Vitamin B6)................10 mg

Why do I still have muscle pain???? What am I missing?

 

[Sea]

What testing have you had done Larisa? What diagnosis do you have? What has been ruled out?

Welcome to the forum

 

[trollo]

Are you basically better with the supps you re taking now?

 

[larisa]

What testing have you had done Larisa? What diagnosis do you have? What has been ruled out?

Welcome to the forum

Thanks @Sea We've ruled out: Lymes, RA, autoimmune markers, thyroid seems to be fine, and a battery of tests I cannot think of at the moment.

 

[larisa]

Are you basically better with the supps you re taking now?

All of my symptoms are under control except the pain. I've only had a break from the pain a few times, once for about a week and once for two days. Other than that it's with me every day!

 

[Snowdrop]

I'll just throw out a few suggestions that I have read. Short term but high dose Vitamin D3 supplementing. This at least is an inexpensive avenue to try.

Also, it's unclear if you tried this: You mentioned fish oil but if you haven't done so you could try just the Omega 3 oil also at a high dose, say two/three times a day.

 

[larisa]

I'll just throw out a few suggestions that I have read. Short term but high dose Vitamin D3 supplementing. This at least is an inexpensive avenue to try.

Also, it's unclear if you tried this: You mentioned fish oil but if you haven't done so you could try just the Omega 3 oil also at a high dose, say two/three times a day.

I'm taking about 6000 IU's of Vitamin D in an emulsion. Thats a pretty high dose. Been on that for about 2 months. No change

 

[Snowdrop]

@larisa

I hope you do find something that works for you.
I tried Vitamin D for pain too some time back because of a thread I read where it had worked for someone.
It didn't help me with pain at all but my brain fog which was quite severe improved somewhat so go figure.
Let us know if you find relief.

 

[sueami]

I will say that I just went to a new holistic MD outside of insurance billing who is reasonably familiar with methylation cycle SNPs. I've had D tests a year ago april and last month.

A year ago April I was at 17 and my then holistic clinic put me on one 50,000 unit prescription D tablet per week for eight weeks. My new physician said that was probably a D2 rather than D3. I then was taking just a couple thousand D through the fall and because of brainfog and running out of the supplements ended up on 400 ius in late fall until mid January when I realized that was way to low (I crashed).

I bumped it to 4000 units a day then and by April of this year I tested at 35 with my regular HMO physician who thought that was fine. As a +/+ VDR Taq that's not fine and my new doc agrees. He suggested I go up to 10,000 units for three months, drop to 5,000 units after that for 3-4 months then retest D levels. He suggested this D product: http://catalog.designsforhealth.com/Vitamin-D-Supreme because it has K in it as well.

So 6000 units may not be enough for you. My doc said that there was a lab in town that would do a vit D test without a doctor's request for about 45 bucks. You might check for that where you live.

 

[caledonia]

See the document Roadblocks to Successful Methylation linked in my signature.