I'm a mutant! MTHFR

Good news! I have been diagnosed with the MTHFR Gene Mutation. The MTHFR Gene produces an enzyme for proper folate absorption. If a person carries the gene mutation that blocks production of this enzyme it can result in problems with folate brain nutrition. If the brain does not receive adequate folate nutrition, you could suffer problems with motivation, initiative, alertness, concentration, mood, sociability, and other brain functions. It may cause other issues within the body as well.

The medication I'll be taking is called Deplin (it is L-methylfolate) and it works through a natural process in the brain to regulate all three neurotransmitters (brain chemicals called serotonin, norepinephrine, and dopamine) associated with mood by providing the increased dietary requirements for folate. It is NOT folic acid! The gene mutation causes the body to be unable to break down folic acid, so over the counter supplements and multivitamins are actually bad for this issue.

Dr Leddy, the doctor who has been conducting the PCS research at UB says that he thinks that I'm physically rehabilitated from the concussion. If that's the case, this gene mutation treatment might take away the other physical issues I'm having. With some occupational therapy and continuing this medication I might be better! I'm very excited about this! We should see results in 1-2 months! Please pray that this is it. God has been so good and so faithful through this process and this would be a great end to this chapter. 

I had been praying Psalm 13 this week while I was struggling with my uncertainty and impatience:

How long, Lord? Will you forget me forever?

How long will you hide your face from me?

How long must I wrestle with my thoughts

and day after day have sorrow in my heart?

How long will my enemy triumph over me?

Look on me and answer, Lord my God.

Give light to my eyes, or I will sleep in death,

and my enemy will say, "I have overcome him,"

and my foes will rejoice when I fall.

But I trust in your unfailing love;

my heart rejoices in your salvation.

I will sing the Lord's praise, 

for he has been good to me.

A new hope.... ;-)

After a 6 week migraine, I called an emergency meeting with my neurologist's PA to discuss options. Every medication I have taken has caused side effects that outweigh the benefits. I can take the edge off the migraine, but it keeps coming back after a few hours or the next day.

She ordered a slew of blood-work to be done and a CPAP sleep study. Amongst my vitamin levels and blood counts, she ordered a test for the MTHFR gene mutation which can cause this reaction to medication I've been having. (http://ghr.nlm.nih.gov/gene/MTHFR) I will find out the results on Monday, Oct. 24.

After some research, I'm really hoping that this test comes back positive. From what I've read, it appears that this gene mutation can cause not only my adverse reaction to meds, but also migraines, fatigue, nausea, and more severe stuff down the road like stroke and heart issues. The solution would be to take a form of folic acid called methylfolate to counteract the effects of the gene mutation. It would be a simple thing to fix so much!

Although I still have more rehabilitation to go through, my physical rehabilitation seems to be complete. Before this 6 week funk I've been in, I could go 30 minutes on the treadmill with a heart rate in the 150s regularly. That was the goal set for me. When I start feeling better, I am going to be able to take the treadmill test again with Dr. Leddy to be sure. This would be a huge win for us!

I'm so hopeful right now that this gene mutation is the answer to how badly I've been feeling and the constant migraines. It would be so awesome to have this be the end to my story and the beginning of feeling well! Please pray that the blood-work is conclusive and clear. Please pray that if the tests come back negative that I don't lose hope and get too disappointed.

The Lord has been faithful and taught us so much during this time and it has all been worth it. Please pray we will continue to give Him the glory and trust His plan. Thank you! 

"Poor - Me" Day

It's been a tough couple of weeks for me. As I am learning to say no to things, I am feeling like I'm being tested thoroughly. I haven't been in a position to say “yes” for the past couple weeks. It's been rough.

I have developed a sensitivity to Triptans and they just aren't working to kick my migraines lately. I have tried Maxalt, Treximet, Imatrex, Frova, and Relpax. They all work to block different receptors in the brain. All of these, except Treximet (which includes Naproxen), only worked with the addition of an anti-inflammatory.

I found myself with a 6 day migraine that wouldn't break. The Frova I took gave me stroke-like symptoms, and I found myself not knowing what to do. My neuro put me on a Prednisone pack and eventually had to order an infusion yesterday. The infusion included a non-steriodal anti-inflammatory (NSAID), Benedryl, and Zofran.

My migraine was taken down from a pain level of 8 to a 4, but the nausea never left me. I went home and slept it off for a couple hours and found that I could get out of bed. I couldn't sleep last night very well and found myself up at 6 this morning.

My neuro is going to give me something else to try for migraines today. I've been so traumatized by different medication's side effects that I'm nervous to try anything new. I feel like lately all medication I take is either ineffective or makes crazy stuff happen to my body. Even vitamins come right back up. I've ordered gummy vitamins to see if I can keep those down more easily.

I'm having a “poor-me” day today and I'm trying to get back to a positive, hopeful place. Please pray that I can have faith and patience as I try out some new medication. I hope we can find something that will work for me.