Monday, February 2, 2015

Reproductive Immunology TEST RESULTS

The results are in.

They found things.

Let me back up a little.

My consultation was on Thursday, January 29.  On Tuesday, January 27 the Beer Center representative emailed me copies of my test results so I would have them in front of me for the phone consultation with Dr. Trobough.  My husband didn't want me to even look at them.  Yeah Right.  This was a good idea, you know, so I wouldn't obsess about anything until the phone call happened.  So I told myself that I would simply print them, organize them for the phone call and SKIM over them.  This seemed like a good way to look without giving myself the opportunity to obsess.  Great idea.

So, I skimmed over my test results.  Nothing seemed to leap off the page.... until I read 'mutation'.  

Hmmm, I have a gene mutation. Interesting.  
Hmmm, I have another gene mutation.  Interesting.  
Hmmm, I have yet another gene mutation.  This is all sorts of interesting now.  

Research begins.  

I am very proud of myself for limiting my research to mostly The Beer Center's website for insight into what the gene mutations effect.  I basically did a wikipedia version of research about these mutations.  I am proud that I was able to stop myself from obsessing.  Very proud.

My Gene Mutations and What I Initially Learned:
MTHFR C667T                 mutation on both alleles   (Homozygous Mutant)
Factor XIII V34 L             mutation on one allele      (Heterozygous Mutant)
PAI 1 4G/5G                     one copy of 4G variant     (Heterozygous Mutant)

A few words about Gene Mutations:
Having these gene mutation makes me genetically predisposed to potential problems.  It doesn't mean that I automatically have a problem.  It does mean though that I have a higher likelihood of developing these health problems than the general population does.

MTHFR C667T  Homozygous
Having this common gene mutation may impair my ability to process folate.  Folate is essential to avoid neural tube defects in the baby.  Neural tube defects are birth defects of the brain, spine, or spinal cord.  Having a double mutation of this gene is not good news.  However, having mutated MTHFR genes but normal homocystine levels means that my body is functioning properly, so far.

Factor XIII V34 L  Heterozygous
An inherited gene mutation associated with an increased risk of Thromobphilia (blood clots, deep vein thrombosis, pulmonary embolism).   This is not a big shock due to my family history.

PAI 1 4G/5G  Heterozygous
This gene is associated with the physiological breakdown of blood clots. 

And Now for The Cherry on Top of my Mutation Sundae:
Studies have shown that people with BOTH a PAI 1 mutation and a Factor XIII 34L mutation, known as compound carrier status, have a significantly increased risk for early pregnancy loss.  Study can be found here.

A superstorm.  Great.  Did you just get the chills?  I certainly did.  Not only do I have a genetic predisposition to clot I also have a genetic predisposition to NOT break down clots correctly. 

So you could say that I was appropriately prepared for my phone consultation.

The Phone Consultation

Dr. Trobough called and went over my health history and asked me additional questions.  Then he jumped right into reviewing my blood test results.  He started with the immune system tests:
  •  Leukocyte Antibody Detection (LAD)            normal
  • T Regulatory Cells (CD4/CD25/FoxP3+)        normal
  • Natural Killer Assay (NK Assay)                     normal
  • TH1 : TH2 Cytokine ratios (TNF-a & IFN-g)  normal
Then he went into the antibodies tests:
  • Anti-DNA, Histones (anti-dsDNA, anti-ssDNA, Anti-Histone, Anti-Sci70) - negative
  • Auto-Antiphosphilipids Antibodies II (too many to list) - negative
  • Then, because of the sheer number of tests like these he made a blanket statement about all of my antibodies being normal
Then he went into the Thrombophilia panels:
  • Major factors were all normal (Leiden V, etc.)
  • Minor factors:  
    • MTHFR     "not a factor in my miscarriages because of my normal homocystine levels"
    • PAI 1          "The combination of PAI 1 and Factor XIII is associated with early loss"
    • Factor XIII "The combination of PAI 1 and Factor XIII is associated with early loss"                     "This combination could be a factor in your losses" 
Then he spoke about my endometrial biopsy:
  • He began our conversation by telling me that my CD57+ cells were normal.  He said that the FoxP3+ cells are actually T Regulatory cells but that for clarity in charting they refer to them as FoxP3+ because they are not from blood tests but rather the endometrial biopsy.  He said my FoxP3+/T Regulatory cells were low.  He would like to see 2 or 3.  I had 1.
  • What do FoxP3+ cells do anyway?  These cells are thought to be very important in establishing maternal immune tolerance to the fetus.  In patients with low values they find an increased instance of primary unexplained infertility.
  • This was a light bulb moment for me.  Not only do we possibly have a reason for the miscarriages we could now have a reason why IVF has failed.   Vindication!
Then he spoke about other important tests
  • TSH was 2.9 (only two months after upping my dose.  Grrr.)  He recommends that I up my dose to 25 mcg everyday.
  • Vitamin D - 36 (low end of normal range).  He was pleased with this number and honestly I was shocked by it.  It is the heart of winter in New England and I am never outside.  AND this number was without any supplementation.
  • Mild insulin resistance.  Apparently I have it but he doesn't want to treat it since it is so mild.  I am not sure where that result is within my pages and pages of test results.  I will look into that later.
The Plan
So Dr. Troubough wants to treat these findings as follows with my plan to proceed with another round of IVF:
  1. Blood Thinners for the superstorm of gene mutations.  Lovenox until 12 or 13 weeks.  I will begin Lovenox 2 days after egg retrieval.  1 shot/day until a positive pregnancy test.  2 shots/day once pregnant.  (More shots? No big deal)
  2. Increase my Levothyroxine to 25 mcg daily (I was on 12.5mcg on Mon-Sat and 25mcg on Sun)
  3. IVIG infusion to address the FoxP3+ situation.  This will happen 1 month before retrieval.
Dr. Trobough will be writing a treatment letter for me to share with my endocrinologist (to increase my thyroid meds) and my RE (so she is in the loop).  I hope that these doctors are supportive but at the end of the day that doesn't matter.  Dr. Trobough will be my prescribing doctor for the Lovenox and IVIG infusion.  This is great news simply because I will not have to convince my RE to prescribe anything.  Nor does she need to believe in any of this research or recommendations.

My Take on All of This
The order of my emotions and how I am processing all of this:
  1. Relief that they found something to address
  2. Vindication that I am not nuts
  3. They found something and a treatment plan is in place.  I have hope and optimism BUT, I am still guarded.  Just because we have something to go by doesn't mean that it will work.  I hope that I am on the right track but I am still guarded about these new things working to get me pregnant and KEEP me pregnant. I guess I'm just a little overwhelmed right now especially with little to no information for me to look for about success stories for my particular circumstances (like forums for reassurance). I don't like to put all of my trust in Drs. It hasn't served me well in the past. Regardless, it's good news to be worried about a treatment plan rather than WHY? 
  4. I've had time to let this all soak in and I am relieved and eager to begin another treatment cycle soon.  We haven't been trying since our failed FET in July so we have been benched for quite awhile.  We weren't not trying because of our Doctor's advice but more so because "if IVF and an FET didn't work trying naturally isn't likely to work either"
Next Steps
  • Call our Moms and let them in on the results
  • Find a new prenatal with Folate instead of Folic Acid to be on the safe side.  While my doctor doesn't believe my MTHFR mutation to be an issue I want to error on the side of caution and switch to a MTHFR-friendly prenatal.  (you try googling "MTHFR Pregnancy" and try not to get freaked out by all of the possible problems, miscarriages and horror stories)
  • Contact my new Rx mail service about setting up a new account (2015 = insurance through my employer instead of my husbands')
  • Lookup and log my TSH values from October.  (My Endo Dr. said "they were fine" but gave me no values)
  • Contact my Endocrinologist about increasing my dosage to 25 mcg daily.  I expect her to agree to this without the treatment letter from my RI but we shall see.
  • Call my RE's office
    • Update insurance information
    • Inform them that I have my test results and will be mailing them a treatment letter soon
    • Request them to initiate a new IVF approval letter from my insurance company
  • Draft a IVF cycle calendar so I can note important dates, etc.

Rainshower:  I am a mutant ;)  My maternal immune tolerance to a fetus isn't terrible but it isn't great either. 
Rainbow:  I know I am a mutant and that my maternal immune tolerance isn't great and now we can try to do something about it!  Without the rain there would be no rainbow.

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