Tag Archives: Depression

The MTHFR Mutation

Sounds scary, doesn’t it.  Well, it kinda can be.  You see, I have the homozygous MTHFR gene mutation which leads to severe reduced folic acid conversion.  Homozygous: this means that I have two mutated alleles in on one particular gene that are busted. So, that’s pretty bad for me… so how do I fix it? Can I fix it?

So here’s the scoop:

When we ingest folic acid, it is in a form that cannot cross the blood-brain barrier, to enter the brain. This is where it needs to go to help create seratonin, dopamine, and norepinephrine.  If we don’t create enough of these, any antidepressant can only do so much with the small amount of neurotrasmitters present. The gene segments responsible for instructing the body on how to properly metabolize folic acid so it is usable in the brain have been identified.  This is why cheek swabs can be used: DNA can be isolated from the tiny tissue sample on the swab, and it is then inspected in the lab to see if there are mutations on what’s called the MTHFR gene. This gene is the one responsible for Folic Acid metabolism.  A person may have no mutations, one, or two.  If they have a mutation affecting their use of folic acid, it is available in an already-metabolized form, so that when swallowed, it is already capable of crossing the barrier to the brain. For some people, finding out they have this mutation and beginning to taking the L-methyl folate into their body, is the missing puzzle piece – their antidepressant begins to work much better, because the brain has begun to make neurotransmitters in correct amounts upon which for the antidepressant to act.

So, I have now been on Deplin for 5 days and I feel incredible. nIt’s been like light a light switch going on.  I took a GeneSight test by Assurex to look at possible gene-drug interactions, so based on those results I was also put on Pristiq and again I continue to feel good everyday. I have more energy, more stamina, and a willingness to finally allow myself out of my psychological box and become vulnerable.

I feel like my sleep cycles are starting to shift to more reasonable hours and that the daytime MS fatigue is significantly better.  I am so grateful for this test.  It has helped build a better path with less guess work as to which medications work well in my body and which other do not.  This is huge.  I had one of my son’s take the test and he too was low in Folic acid conversion, but not as bad as me. So, he’s on Deplin as well and is now on medications that are in his least side effects column.  I stand by this test 110% – now that he is on the correct medications, he has made a 180 degree change for the better and is much happier with life.  So truly amazing.

Starting some new meds

Yesterday was a rough day. I had a lot of increased weakness and proprioceptive issues with my left arm and hand.  I think this may be the beginnings of Tysabri withdrawl or Tysabri Rebound Effect.  Either way, it’s no fun to have MS symptoms returning and worsening.  Thankfully, today my arm feels better, pain-wise, and is moving a little better as well. Hopefully it will stay that way. I’ll be calling my neuro tomorrow to get set up for my next IV steroid.

I saw another doctor yesterday who wanted to help me with my depression/anxiety, as well as neuropathic pain.  So, I was given scripts for Cymbalta and Ambien.  The Ambien is hopefully just going to be a temporary thing to help me retrain my body to go to sleep at a more appropriate hour at night.  I need some good rest to try and give my body a fighting chance at trying to heal.