..The letter the Doctors office sent me states - Methylenetrahydrofolate reductase (MTHFR) is the name of a gene that 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 your Motivation, Initiative, Alertness, Concentration, Mood and Sociability. The Doctor wants me to start taking a Prescription Medical Food, pill form which I could crush and put thru my feeding tube. It's called Deplin. It has been ordered thru a perscription mail order pharmacy but has not arrived yet.

Also a couple of days later the Doctor sent another letter saying i tested positive for Heterozygous positive for the CYP2D6*41. tHAT LETTER WAS EVEN MORE CONFUSING The Doctor hand wrote that I am an intermediate metabolizer of 2D6 meds. And that I need to bring and show this 4 page letter to any Doctor appoitments for them to read before they perscribe any meds for me. All I really want to know is why I still can't swallow. The more test the Doctors take the more I have no answers. just more questions.

I asked the neuro phyc Doctor if these 2 positive test could be causing my swallowing problem and he said" it might or it just might be adding to the problem." I'm going for a bariam vidio swallow test on the Dec 20. I don't know if they can help me if on that day or that hour I could or could not take a sip of something. Any thoughts on these two genic testings that came back positive, also a positive EEG.

Hello, I'm sorry to hear that you are goign through this!! I don't know about the second one, but I am familiar with the MTHFR
I was diagnosed with MTHFR (Homozygous C677t- which is known to be the "bad" gene). SO I have two copies of this C677t, so I'm likely to be more symptomatic. From what I have read 40% of people test "positive" for MTHFR when tested.. that are usually asymptomatic and would never know the difference.
I have to take folic acid (4mg a day in addition to my multivitamin) and a baby asprin each day. I have never heard of the disorder causing any "brain" issues other than strokes secondary to blood clots. usually due to inability to synthesize folic acid correctly it can cause an elevation of homocystein levels in the blood leading to a state of "hypercoagulopathy" or blood clotting - like blood clots in the lungs, legs, heart attacks and strokes.. it causing anything more or other than that I am not aware of. If you have had a stroke in the section of your brain that is affecting swallowing I could see that being a cause otherwise I don't really know what the relation would be, but I don't know your full story, and I don't know the side effects other than the clotting! Good luck, I hope that helps!

Deplin, as pure L-methylfolate, by-passes the 677CT gene defect and crosses the blood brain barrier enhancing BH4. More BH4 eventually means more of the three essential neurotransmitters. This is how Deplin aids in treating depression. If you have the gene defect, taking folic acid may actually hinder the conversion factor (see articles) and still not address the issue. Metanx is another product by Pamlab that contains L-methylfolate and also Methylcobalamin and Pyridoxal 5 Phosphate. Metanx has an indication for endothelial dysfunction and hyperhomocysteine. **

Thank you Bny 806 and Davidr11,

I understand about the L-methylfolate and that taking this is suppose to help my body be able to by-pass the 677CT gene defect and crosses the blood brain barrier.But how or does this effect the M.G. and me not being able to swallow.
I recieved the Deplin in the mail today, 15 mg once a day. I broke it in half to take half tonight and then starting tommorrow take 1/2 in the morning and 1/2 at night. I am always leary about starting new meds, my body dosen't react well to certain meds and I never know how its going to effect me until I try it, baby steps.
Thanks for your replys!

Hi, GrannyJo. I won't even say what the abbreviation of that mutation always reminds me of.

http://www.ncbi.nlm.nih.gov/books/NBK6561/

Have any of you been tested for homocysteine and B12 levels as well as folate? There's a lot more to that "biochemical sequence" than just folic acid. Mrs. D. could probably give you a lot of info about this.

If you have this mutation, you cannot have Imuran. There are other drugs that could build up in your system/liver. You may want to consult a specialist to go over all of the possible implications of that. A good hematologist might be able to do that. Talk to your primary doctor about a referral. With these rarer, genetic mutations, you really need an expert. Also, your family should be tested as well.

You need things like B12 to make acetylcholine. This mutation "might" make MG worse but it would affect other systems more, such as circulation, the heart and brain.

What did your EEG say? Do you have a copy of it? If not, get it! You meant EEG, not EMG, right?

GrannyJo, have you had a brain MRI? I agree that if you had any damage, it might affect your swallow. But they'd have to "prove" that. Some people with MG simply have more bulbar issues and, therefore, more swallowing problems.

You might want to ask your doctors if Deplin is really the best way to go or if you could use a supplement instead. No, do not make any changes to what they said to do! This is a serious mutation and you need care. But at least ask the question next time. I am always cautious about whether a "drug" or a supplement would be better. You know how they like their drugs!

Mrs. D. will also echo this . . . you need to supplement with B12 when you take folate/folic acid, UNLESS this might make your situation worse. Normally, a person cannot get too much B12 but, again, you need to speak to an expert about all of this. Those two work synergistically together. Getting tested first for B12 and homocysteine is probably best.

I hope you guys will all do fine on your regimens. Best of luck.

Annie

Hi Anne,
I am on a feeding tube which takes formula that has all the nessesary nutrients including B-12 and all the others. I have had my B-12 check a few months ago, it is in the normal range right now but I think it's because I get B-12 shots every two weeks. Before that it was low. I'v been keeping track of my B-12 for the last 3 years.

When the Doctor sent me for all these blood works he covered everything. They took 36 tubes of blood from me and they said alot of the tubes had 2 or 3 test in them. The nurse's at the lab said they never had sent out for alot of these specific test before, they were learning something new also.

I have notified my siblings that they should be checked and also my two grown sons. I am hoping they take it seriously and go get the blood work done.
My Mom had 3 strokes all in her 50's and past away from a ceribral hemerage, possibly from to much blood thinners at the age of 60.
Her Mother, my Grandmother had two strokes in her 60's and lost her speech; she never got better and past away at 72yrs.

Yes, it was the EEG that came back abnormal. I see the Neuro phy doctor the end of January. I will get some questions answered. When I asked my regular neuro why my EEG came back abnormal he said he doen't know about that stuff since he didn't order it, so I need to talk to the Neurophy doctor to explain.

I also asked my reg Neuro if my MRI show Any sign of a stroke and he said absolutely not.
My EMG was normal but he's sending me for a second opinion in Jan. for another with a differant Neuro muscular specialist.

It is all so hard, in the mean time I still can't swallow a sip of water one day but then I can on another day.
But I can swallow my saliva when I go into my sleep state at night, I have no choking or drooling and I can actually feel myself swallow, but Not on command, only as a natual reflex. As soon as I awake the swallowing stops completely and the choking and spitting out my saliva begins through out the whole day.

Thanks for your reply!

You will want to get the numbers of your B12 test.

The "normal" ranges in US are OLD, and have been replaced.

The old one goes down to 200.... the new one 400 is the lowest.

If you are below 400, you can sustain nerve damage over time.
Don't ever accept "normal" from a doctor doing vitamin testing.
Most doctors do not understand this.

So here is a medical site written for doctors, to help them treat patients correctly based on new medical evidence:
http://www.aafp.org/afp/2003/0301/p979.html

That site was written in 2003... and still many doctors don't properly test, interpret test results or treat effectively.

Also talk with your Dr' in reference to Brachial Plexus! They are nerves that branch off in the spine area if affected, they could tear, stretch and/or compression could be going on. Read up on BPI (Brachial Plexus Injury) they are motor and sensory nerves that control your bodies function! Have you seen a ENT SPECIALIST! or have you had a Endoscopic test done! By your (GASTROENTROLOGIST)? and I would also research all causes why people can't swallow. And when you get it pulled up check the causes with your symptoms!!

Good Luck GrannyJo4

"If you have this mutation, you cannot have Imuran"

I hesitate to interject on another's thread but am puzzled as to the reason for this I am not questioning it but am just ignorant of the factors behind it. And seeking enlightenment.

Regards John

Poor metabolizers of CYP2D6:

http://en.wikipedia.org/wiki/CYP2D6

Normal doses of drugs will build up if you are a poor metabolizer with this mutation. They can then become toxic. Sometimes a reduced dose could be figured out, but sometimes a drug is too toxic to mess with. Finding complete lists on the net is difficult...but if you look a drug up in detail, the pharmacology part will give metabolic information.
www.rxlist.com for example does provide this.

This is the pharmacology of Imuran:
http://www.rxlist.com/imuran-drug/cl...armacology.htm

Major drug interactions:
http://www.rxlist.com/imuran-drug/si...actions.htm#DI

Drugs.com has a good drug checker that will go into detail about this drug when used with others.