Tuesday, June 23, 2015

Hello All!

Since my last update, I had my MET (mock embryo transfer), got my medications (today!) and also received our recessive genetic testing results (also today!).  Today has been crazy to say the least!

The MET went well.  I was obviously very nervous about the procedure, given my experience with the last one.  I took 3 Ibuprofen prior to the procedure, just in case, but honestly it wasn't needed.  It was done in his regular exam room with a TV televising Dr. Oz, surprisingly (I thought all doctors weren't crazy about him), but no TV was set up for the doctor to see where he was going.  The procedure consisted of him inserting a scope into my uterus and measuring how far it took to go from different points and if there were any curves.  The actual embryo transfer will have a camera on the scope so he can see exactly where he is placing the embryo.

When Dr. R entered the room he smiled, shook my hand, and asked if I was nervous.  He has an extremely good bedside manner and just a calming presence in general, so I always leave his office feeling at ease.  He assured me the procedure would be quick, and that it was.  As soon as I started to feel the cramping like I felt with the hysteroscopy, he said "all done."  He asked if I was getting excited and told me it'll be here before I know it.  Time really is flying!

His assistant sent my medication order off to the pharmacy that day and gave me $1400 worth of free meds!  I was so appreciative!!!  Especially since the rest of my medications were $2900!!

I got a call yesterday afternoon from a nurse at my doctor's office about our recessive genetic results.  Her message went something like "so I have your results, and although they're not too bad, you both did test positive for a couple of things.  Give me a call when you get a chance so we can discuss the results."  I really like the nurse who called, but naturally it was 4:30 in the afternoon, I got off at 6pm and was freaking out the rest of the night into this morning.  Turns out we both tested positive for MTHFR, which can cause an elevated risk of pregnancy loss.  The gene makes it difficult to absorb folic acid, which is the most important supplement to take when pregnant.  Because of this, it's important for me to take an increased dosage (4mg, instead of 1mg) daily.  I picked up my prescription and started tonight.  The pharmacist even questioned why I was taking such a large dose.

Lee didn't have much of an opinion about the genetic testing, which was optional for us, and said it was up to me.  He felt like it may just increase worry in me, and last night I was cursing myself for even doing it because all I did was worry.  Today, I'm so grateful we did!  From talking to the nurse, it sounds like MTHFR is something relatively new they are finding out that contributes to pregnancy loss, which is my second biggest fear after the obvious fear of IVF not working.

Here are the results of our genetic testing, hot off of the press (I haven't even had a chance to google and learn about each condition, more than the description given):

Positive: CARRIER (Michelle) for GSD type V  Risk of affected child: 1 in 3,200

Glycogen storage disease type V (GSD-V) prevents the body from turning glycogen, a stored form of sugar, into glucose, which is used for energy. People with the disease experience pain, cramping, fatigue, and soreness during and after exercise. Symptoms of GSD-V usually begin in one's 20s or 30s, but can begin anywhere from infancy to later adulthood. The disease does not typically affect lifespan. 

Positive:  CARRIER (Michelle) for PPT1-related NCL  Risk of affected child:  1 in 4,200

PPT1-related neuronal ceroid lipofuscinosis causes degeneration of the brain leading to a progressive loss of mental and motor skills. It can also cause blindness. There are two forms of the disease - one with symptoms that begin between 6 and 24 months of age which is typically fatal in childhood and another with symptoms that begin between 4 and 10 years of age which is typically fatal in the teens or 30s.

Positive:  MILD CONDITION (Lee) for HFE hereditary hemochromatosis

HFE-associated hereditary hemochromatosis is an adult-onset condition that causes the body to absorb and store too much iron, potentially damaging organs such as the liver, heart, and pancreas. However, the majority of people with the condition do not develop symptoms of the disease at any point in their lives. For those with symptoms, effective treatment is available and can allow for a normal lifespan. 

Positive:  MILD CONDITION (Michelle & Lee) for MTHFR deficiency

MTHFR deficiency is a mild condition associated with a slightly higher risk of neural tube defects and pregnancy loss. Roughly 40% of Americans are carriers of MTHFR deficiency, while another 13% have the condition. For the vast majority, it causes no problems with their health or the health of their children.

Our next appointment is together on Wednesday, July 1st for medication training = the day Lee has been waiting for!!  It's also the last day I'll take my birth control bill.  They want me to have a light menstrual cycle for four days, then I'll start on injections Monday, July 6th after a morning baseline hormonal blood draw.  This is really the official start of my cycle, and somehow I feel the point where things will calm down a little.  Yes, I will be bumped up with crazy hormones, but I've been so stressed and running myself tirelessly until now, that I somehow feel I can concentrate on myself at that point.  

In case you are wondering what my little pharmacy looks like here's a pic (minus 3 boxes of a hormone I forgot to put out):


I am most nervous about learning I'll be on Prednisone, and can't find it anywhere in my calendar the dose or how long I'll be on it.  If we make it out alive, please send Lee to a retreat far, far away from me and remind him how good of a person I really am!  For me, I'll definitely need some hugs and some "there, theres."

We have a very busy and fun week planned ahead!  Lee's cousin, Stephanie and her husband Duke flew in tonight from Missouri with their two daughters.  We haven't seen them in probably… 8 years??  They are staying in Ken & Lynn's RV so we won't be able to see them until Thursday night.  Lee's aunt Peggy and her husband Jeff will be arriving tomorrow and Marc (Lee's bro) gets here Thursday.  All of them, minus Marc, are going to southern Cali for the weekend, but our good friends Paul and Leandra and coming in late Friday night to spend a short weekend here.  I'm taking Friday off to spend with the family, and boy do I need it!

XOXO,
Chelle





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