Thursday, July 31, 2014

MTHFR Mutation?

Well, I guess add MTHFR Mutation to my list of complications! I cannot catch a break.
What is MTHFR? Up until a few hours ago I had no clue. Now I have to know since I was just diagnosed with it.

The quick summary of it is:

"The MTHFR genetic mutation, or polymorphism was first discovered as a result of the human genome project. The gene produces the MTHFR enzyme, and people who have this mutation have a reduced ability to process folic acid/folate into something their body can use."

These are the functions of folic acid/folate:

Turn on and off genes (gene regulation)
Process chemical and toxins (biotransformation)
Build neurotransmitters (dopamine, serotonin, epinephrine)
Process hormones (estrogen)
Build immune cells (T cells, NK cells)
DNA and RNA synthese (Thymine aka 5-methyluracil)
Produce energy (CoQ10, carnitine, ATP)
Produce protective coating on nerves (myelination)

So this mutation affects a lot of different hormones and the way things are or aren't processed.

Pretty awesome news, right? (Note the sarcasm.)

Ugh just another day in my life of bad news after bad news.

Wednesday, July 30, 2014

The past 10 months

This is what I have been through since I asked Drs for assistance.

September 2013
Diagnosed with PCOS.
I was told I had an uterine abnormality.
Made appointment to see a fertility specialist.

October 2013
Had an HSG procedure which showed I have an arcuate uterus.
Consultation with fertility specialist.
Found out I am anovulatory. I am not growing and releasing eggs.
After doing blood work, I start taking synthroid, CoQ10, vitamin D3, baby aspirin, and a prenatal with DHA.

November 2013
I start fertility drugs.
I take 50mg of Clomid.
I don't respond.

December 2013
I take 100mg of Clomid.
Again I don't respond.
During a pelvic ultrasound, Dr thinks I may have a polyp or fibroid in my uterus.

January 2014
I have a sonohysterogram.
I do have an uterine polyp.
Dr concerned about my uterus shape. Back to the idea it may be septate/bicornuate.
I have surgery - a hysteroscopy to remove the polyp and determine I do have an arcuate uterus.

February 2014
I take 150mg of Clomid.
Again I don't respond.
Start taking metformin along with my other pills.
Decide to move on to injections for treatment.

March 2014
Menopur injections for 11 days.
I respond! 1 big follicle is ready!
I do an HCG trigger shot.
Start progesterone supplements 2 times a day.
I do an HCG booster shot.

April 18th, 2014
Do bloodwork to confirm - We're Pregnant!

April 24th, 2014
Started bleeding, so we schedule an ultrasound.
It's still very early, but we see the sac.

May 2nd, 2014
Ultrasound shows no more baby. We lost it.


July 2014
Cleared to start treatment again.

July/August 2014
Menopur injections for 12 days.
I don't respond.
Cycle cancelled.

The beginning

I married the love of my life when I was only 20 years old. I knew the first time my lips touched his that it was the beginning of something remarkable. He wasn't what I expected, I couldn't have imagined someone so incredible. I fell in love fast. Once I met my dream man, I imagined our wonderful life together. I pictured a beautiful house, a few pets, 2 or 3 children, and a stylish minivan of course.

Well here I am, over 8 years after getting married. We have the beautiful house and two jack russell terriers, but no children. I thought we would have at least 2 babies by now, but we are childless.

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10 months ago I went to a new obgyn to ask for help. I told her that we have been trying for a baby and it's not happening. I have tried charting, temping, and ovulation tests, but it's not helping. My cycle is irregular and it seems impossible to know when (or if) I am releasing eggs.

After a pelvic ultrasound, my Dr tells me that I have PCOS (Polycystic Ovarian Syndrome). Then she continues to tell me that I have an uterine abnormality. The ultrasound couldn't show which one I have for sure, but she says it's either a septate or bicornuate uterus. What does this even mean? I had no idea, these words did not make any sense to me. The Dr tells me I need to have a hysterosalpingography (HSG) which is a procedure in which ink is injected through the fallopian tubes so they can see the tubes and uterus. Sounded so strange to me. It sure did not sound like fun. She told me I was an 'unusual case' so I needed to see a fertility specialist and that she cannot assist me.

I knew I could not put off getting help any longer. This was 4 days before my 28th birthday and I felt like I was running out of time to make our dreams of having a family come true. What comes to mind now is why did I wait so long to get help? I was in denial. I thought I would get pregnant without medical assistance. I'm supposed to be a mom right now. I'm not supposed to have this problem. I shouldn't have to see a specialist, but I do.

I called 3 different fertility specialists to ask questions about the procedure I needed to have done, the costs involved, and I tried to figure out which one to pick. I decided and scheduled the HSG procedure. Once I have the HSG done, I will meet with the fertility specialist the following week to go over the results and hopefully have an idea on where to go from here.

A few weeks later, I had the HSG and then I met with the specialist. Meeting with him was a step in the right direction. He told me it's not if I get pregnant, it's when, how, and how much is it going to cost. The HSG showed I have an arcuate uterus. This is not abnormal, just a normal variant and it will not affect getting pregnant or carrying a pregnancy.  I schedule to do some bloodwork and then plan to start meds the following month. Since my cycle is irregular, in a few weeks they will give me a shot to jump start it.

It is hard not knowing what will happen. I just want to know how to get pregnant. How do we make our baby? Where is the step by step guide for people like me? It's just not that easy.