Tag Archives: Disability

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.

Time to start blogging again…

Many times, I go on these lovely breaks. Usually because life is either busy, or I’m too tired to do more than my day-to-day stuff. I’m awake late tonight because I am on my third day of prednisone taper following my 3 day steroid IV Tues-Thurs.

Steroids have always been good to me and have managed my MS relapses well. I was quite busy today (and somewhat productive) and am still not sleepy, thanks to the lovely steroids.

I need to blog to keep track of this next journey in my life – The one where I figure out what I will be doing next to manage my disease. It’s not an easy decision, but it is one that needs to be faced soon. I was on a very heavy MS drug for 3.5 years, and I still ended up with active lesions on my brain. Booooo.

Hopefully, I’ll blog with more pictures and happy times at home. Summer is upon us. We have an amazing backyard coming together nicely. I am very hopeful that we will have good times this summer!

6 Months Post Stem Cell Implantation

We are coming upon my six month post-stem cell infusion visit. My goodness, time has flown!

I continued having a lot of trouble with eyesight in my left eye since November and went through three 5 day IV infusions with no improvement in my eyesight 🙁  Thus, I chose to do something I never thought I would do and started on the medication Tysabri

In 5 days I will be having my 4th Tysabri infusion.

And amazingly my eyesight has gotten much better – not directly due to the Tysabri, but simply because my body has stopped my continuous relapse of Optic Neuritis, and I have gotten time to have my body slowly try to heal itself.

I have noticed that I feel better on the Tysabri but about 1 week before the infusion my body reminds me that I need my infusion.  In fact, today and for the past three days I have noticed some increased difficulty walking, increased spasms and increased fatigue.  It’s weird… I feel like I NEED my Tysabri to feel better.

5 days and counting…

My stem cells are still circulating in my body and still need time to do some healing. At least now they have a chance since my relapses have thankfully stopped for the time being.