My Story

MTHFR

Posted by Juno on June 01, 2011

 

After the second chemical pregnancy, I decided I didn’t want to go through another IVF until we could figure out what was wrong.  My doctor had no clue other than to say these things happen.  But I felt there must be an explanation.  How could two pregnancies both disappear at 6 weeks?  There must be some trip wire that kept being activated.    My RE ordered a battery of blood tests, standard operating procedure following a second miscarriage, though he warned me, “They won’t find anything that we don’t already know about.”  

Two weeks later, I was out of town for work, depressed and killing time in a motel room before heading into the office.  As I idly flipped through my free hotel copy of USA Today, a teeny headline caught my attention:  

                                 Genetic Link for Some Repeat Miscarriages 

It was a tiny story; just one paragraph long but it said that some women have genetic flaws that make them more prone to blood clots and at increased risk of multiple miscarriage.   My heart skipped a beat.  I grabbed my phone and dialed my doctor’s office.  I got B, my kind, patient, compassionate nurse.  I excitedly read her the blurb.  Is it possible, I pressed, that that’s what I have?  She told me that it was funny I’d called at that moment:  she’d just receivedthe results to my recent blood tests on her desk but hadn’t had a chance to look at them yet.  

 “Let me take a quick peak.”  She quickly scanned them. 
“Hold on a second,” she said, “there is something here.  Something has come back showing an irregularity.” 

She said the high-risk fertility doctor had just walked by her office and she would see if she could grab him to explain.  (I didn’t even know they office HAD a high-risk RE. Why hadn’t I been referred to him in the first place?)  I waited breathlessly as he glanced through my test results.  

“Yes”, he said, “your results show you do have a thrombosis abnormality. 
You have MTHFR: http://aje.oxfordjournals.org/content/151/9/862.full.pdf
– it’s a gene mutation.  Actually you have a double mutation.  It’s on two genes.  It’s a blood-clotting disorder.” 

He explained that this mutation meant my body couldn’t process folic acid in the same way and that it raised my homocystein level and left me at higher risk for strokes and carrying children with birth defects AND that it had been implicated in miscarriage.  I was dumbfounded.  What now? 

“Well,” he said, “of all the mutations to have, this is the best one.  It’s completely treatable with B6, B12 and mega doses of folic acid.  Why don’t you make an appointment when you’re back in town and we’ll go over everything.”

He handed B back the phone. 

“Oh my God,” I said stunned. 
“I can’t believe we found something. “ 

“Yes,” B said, “you must feel relieved.  Now you have something to hang your hat on.”


TREATMENT

  • Folic Acid: 4000mcg, daily
  • B6: additional 3mg, daily
  • B12: 150 ug, daily
  • Baby aspirin: daily


*I went to a holistic doctor during that time whoupped my dosages, saying that there’s no way to take too much folic acid.  Check with your doctors, obviously, and make sure they test your for thrombosis.