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.
Hey Kate - it is great news that you found the MTHFR mutation - now you can act on it!
ReplyDeleteI found your blog via Google Alert -
I welcome you to visit www.MTHFR.net if you have any questions.
Deplin is potent and it may or may not be what you need - depending how you respond to it. Depends on other potential mutations which are also common.
If you feel great on Deplin - perfect.
If you don't, I may know why. Happy to help.
Best
Dr Ben
Thanks Dr. Ben,
ReplyDeleteI did read your blog a couple of weeks ago when I found out about the possibility of this. I appreciate your input, but I have done enough research that I think I'm on the right track here. I trust my team of doctors and if it doesn't work out for me, we will figure out the next step.
Thanks,
Kate
Hey Kate, I admire you perseverance and your courage to share your ups and down. I have been struggling with PCS for over a year now from a whiplash accident and would greatly appreciate any input that you may have.
ReplyDeleteI have felt almost fully recovered a couple times until I accidentally nudge my head again going through my daily routine; it seems like the same symptoms/process start all over again until I rest and sleep and then it usually goes away in a month or two....I have lots of visual problems as well, problems driving, fatigue.
Question: my chief complaint was physical exertion. It sounds like Dr. Leddy helped you. However, I have a bad back and can not walk on the tread mill. Would you happen to know if there are alternatives to the treadmill regimen?
Also, did he refer you out for trigger pt injections for your neck? Many Dr's believe that tightness of the neck or realigning neck will loosen up cranial nerves that create PCS symptoms.
Any input would be greatly appreciated.
It sounds like you are almost there! Keep pushing...!!!
John
Hi John,
ReplyDeleteI'm sorry you are going through setbacks and that you have PCS. I appreciate your support and kind words. It's been 2 ½ years for me now, and I can't believe it's been that long!
Dr. Leddy has helped me with the physical, in fact I had such a bad few months that I'm working that back up right now. I am not where I was, but I'll get back to that point of physical rehabilitation. I know he has had people use an exercise bike or an elliptical. Anything that you can raise and lower the exertion on to regulate your heart rate should work.
You should really call his Concussion Clinic and get some advice from him. I can only tell you what I did and I feel nervous about anyone taking advice from me, as I am not a professional. I gradually built up my tolerance for exercise at all until I was at 20 minutes. This took me almost a year. After a consistent 20 min a day pattern, I was able to then regulate my heart rate. I'm trying to work my way up to 30 min a day at 80% of my max heart rate. It's been slow going.
Don't get discouraged. Get a heat rate monitor if you can, as this will help you keep yourself within the appropriate range. I move the treadmill incline up or down to keep my HR in the 150's. You could increase resistance on a bike or whatever you are doing to regulate yours.
When I started I could barely do 1 minute of exercise before I had to stop b/c of symptoms. Take it slow and make sure not to overdo it. Like I said, it would be better if you talked to the UB Concussion Clinic and got all the info.
Oh, and yes, my neuro gave me trigger point injections at one point. I also had occipital nerve block injections. Once at the beginning of all this and once about a month ago. The best thing for my neck injury has been an alternative therapy called Bowen Technique. (http://www.boweninfo.com/how_it_works.htm )
Good luck to you!
Kate
Kate, Thank you for your kind words.
ReplyDeletePCS is a tricky ailment; very strange how it is just becoming such a priority to the public and a ongoing concern for professional athletes.
The fact that you came as far as you did on the treadmill shows that you are heading in the right direction and recovering.
It also adds credibility to Dr. Leddy's research. I am happy to hear it.
Thank you again for providing such an informative forum to exchange ideas.
I wish you best and hope to keep in touch.
John
Hi Kate...can you refer me to a bowen therapsit in or around Buffalo, NY....please.
ReplyDeleteHope you are well,
John
Sure John,
ReplyDeleteMaryJo Keenan(716-634-1601)operates on Sheridan Dr in Williamsville. She is the only one in the area as far as I know. She charges $50 and Insurance/Flex will not cover her services.
Good Luck!
Kate
Hi!
ReplyDeleteI'm suffering from PCS as well, and I find that I can relate to a lot of your posts. Wow, 2 1/2 years is a long long time, I'll keep you in my prayers. The bible quote is really inspiring, I try to read the bible as much as I can handle every night to keep up my faith in God even though sometimes it's hard. I will be confirmed in a couple of months too!
Also, just a question, have you always had the MTHFR Gene Mutation, or did it start after your concussion incident?
- Lila, http://unsureandahundredmiles.blogspot.com/
Hi Lila
ReplyDeleteI'm sorry that you are dealing with PCS. I'm glad that you are in the Lord and can find comfort in your faith. It is hard. If you read my recent post, you will see that I struggle sometimes with discouragement and lash out at God sometimes.
If reading is tough for you, try listening to radio sermons or sermon podcasts. I can recommend Mark Moore (what I'm currently listening to). It's easy to follow for us PCSers, but also very rich. http://markmoore.org/publications/sermons.shtml
This helps me stay connected to God, learn, and I don't burn out trying to read so much.
I've always had the gene mutation I guess, but any deficiencies may not have been noticeable without the head injury. When your body is trying to convert folic acid to L-Methylfolate, it struggles to do so and has to work harder to do so. Add to that the process of trying to repair itself, and those changes may have become more noticeable.
Good luck to you! I pray that God will heal you quickly and this will be a blip in your life that you look back on and say, “Remember that time I had a concussion?”. Just like “Remember when I had bangs?”, lol!
-Kate
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