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Your diet can have a huge impact on the effects of your MTHFR mutation as well. I suspect this Meyer-Powers syndrome patient may have had diet + other mutations that made their situation worse.
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This is a real patient from my office. Young AFAB gender nonconforming adhd autistic human with hypermobility, hirsutism, pots, and more. Aka textbook Meyer-Powers syndrome.

This person before any treatment

This person has only a single bad C677T copy.

I checked folate and b12 levels before treatment, they looked like this:

(Pre-methylated vitamin treatment levels)

After starting the patient on methylated B vitamins, this is their homocysteine result only a month later:

https://preview.redd.it/0li26lx732ya1.png?width=802&format=png&auto=webp&v=enabled&s=f38fd9a56880eb6c99ec6791242191a638c38ba7

I am highly suspicious this patient also has an MTR mutation, but I'm not sure yet. I plan to test for it.

regardless, based on all available known science, this person would have been told "you have one C677T, its not that bad, CDC says don't worry about it".

If they pushed, and had a B12 and Folate run, they would have produced normal values.

If they pushed further, they would have gotten a homocysteine run, and it was abnormal, regardless, B12 and Folate were normal, so this person would have been considered not treatable by vitamin supplementation.

Despite that, putting them on Methylfolate did this, in 30 days. I am really really hoping they experience overall major surges in their health/wellness and improvement in their mental health / hypermobile symptoms as well.

There is much more going on here than medical science has ever previously noted. I wanted to give this patient as an example that even people who I initially don't think will benefit much from the methylated B vitamins seem to be deriving benefit despite everything "known" saying they should not.

I am sure there are further pathways for us to elucidate here, but for those with the symptoms of Meyer-Powers syndrome, talk to your doctor about starting methylated B-vitamins and seeing if you have benefit from it.

For those with the hypermobile variant, please give it at least 6 months to determine if it works or not!

(I've been treating one of my best friends for nearly a year now, I literally invented this whole process just to try and help her reverse her EDS. She is an FKBP14 heterozygous nonsense with symptoms way worse than a heterozygous carrier should have so I figured something else had to be amplifying it.)

I then tumbled down this rabbit hole where I now stand. For her, it did nothing for months until about month 4-5 when the changes were apparent. She can no longer "pray" behind her back anymore. Her skin no longer wrinkles when leaning forward. Collagen takes time to turn over, so take some vitamin C and your B-Right and be patient.)

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1 year ago