My Journal - Week 61 (17Oct10)


My first post after this weekend should have been about the CONFERENCE... and I promise - I will get to it and I want it to be all about the Conference.  But first, just so I can get this out there and explained... I have news....

Background first:
I will try and keep this brief so as not to confuse anyone or ramble on about past things.  A month ago (17th Sep) I had surgery for a cyst called a Bartholin's cyst.  The day I went in to have the surgery the doctors as well as myself needed to know if I was pregnant.  My period was late and I had a blood test earlier in the week which told me that I had a beta hCG reading of 2 mIU/ML which is normally considered negative if below 5 but when you are not pregnant, it should be zero.  My period ended up coming the Monday after the surgery (albeit 4 days late) and we learned it was quite possible that I had something called a "Chemical Pregnancy".  (This is where you conceive but either don't implant or the conception doesn't stick around and is gone by the time your period comes).

Before being admitted to the hospital for that surgery and knowing that I was concerned that I was or might possibly be pregnant, I also needed the results of my genetics testing (that I had about two months ago) for the Genetic Mutation called MTHFR.  When a woman has many miscarriages a genetics test can be done to determine if she has a genetic variant or mutation which is responsible for the miscarriages but isn't usually performed here in Canada.  After speaking with a Genetics Specialist and determining that I would be given the special genetics test, It was confirmed and turned out that I did indeed did have the very genetic mutation called MTHFR and of that mutation I had a specific variant known as C677T.  Receiving this diagnosis meant that I now had the confirmed medical documentation as to why I was prone to miscarriages and also to something fairly recent in study, being prone to having children with Chromosomal Abnormalities such as Down syndrome or Neural Tube defects.  NOTE:  Having MTHFR doesn't mean I will have a child with these medical concerns but there are studies out there that suggest having a problem with being able to absorb Folic Acid does make me more predisposed to the situation.... There are many studies that correlate with the fact that having a deficiency with Folic Acid can result in an increased risk for Genetic abnormalities in offspring.

Knowing that I have this "rare" genetic mutation means I must be treated with a very specific medical regiment in order to prevent the possibility of miscarrying.  Without following the medical regimen I would be prone to more miscarriages and studies show that following a treatment shows a 70% chance of going on to have a normal pregnancy.   With this genetic problem I was referred to a new Obstetrician Gynecologist.  I saw this new OB/Gyn on the 7th of October and she was absolutely fantastic.  She in turn referred me to Mount Sinai Hospital to speak with a very specific genetics OB/Gyn who would investigate my history along with my Genetic diagnosis and then discuss they type of treatment  I would need.  There is no cure for a genetic mutation but medications will make it likely to defeat the high potential to miscarry.  All the treatments involve raising the intake amount of Folic Acids by prescription (since the mutation I have prohibits the absorption of Folic Acid in my body) where a normal person would only need 0.4mg of Folic Acid daily during pregnancy, I would need 5 mg (10 times the amount) on a regular basis.  Not only do I have to increase my intake, it is for life, since Folic Acid is found naturally in foods.  The genetic mutation MTHFR (with my specific variant) is responsible for vascular diseases and blood clotting called Thrombophilia and Deep Vein Thrombosis.  Because of the way my body functions, when I am pregnant - there is a high possibility without treatment that I could have clots in my body along with clots within the placenta.  Clots in the placenta cause failures within the placenta and subsequently in turn would end the pregnancy due to an insufficient blood flow/oxygen flow to the fetus.  In order to treat that aspect of the mutation, blood thinners are often required as part of the treatment, not only in pregnancy but sometimes throughout life.  These amounts of blood thinners etc. need to be determined by the specialist at Mount Sinai.

Knowing all of this, I knew that there were things I could do in the interim until I was put on the treatments.  Also, I knew that until I saw this new specialist, I might not even so much as conceive.  (Often times people who are affected by MTHFR don't even conceive because the mutation affects the fertility on top of just conception)  Many women with this mutation are treated pre-conception because of this fact.  So, with all that has been happening, I figured that I wouldn't try as hard as we had been to conceive this month or until I actually saw the specialist.

Onto the news....

With everything that has been going on with preparing for the Down syndrome Conference in Niagara Falls, I haven't been keeping on top of my Fertility Charting due to this Genetic Mutation.  I literally told myself to give up for a bit until things were clearer.  My girlfriend (who also has MTHFR) actually phoned me last night to ask me what has been going on with my Fertility Tracking....  She wanted to know if I had tested for pregnancy this month (which when trying to conceive is a monthly scheduled event) and in forgetting what cycle day it was for myself and also not really trying I didn't think I would test.  I would just wait for my cycle to end as usual, in RED.  Well, my expected menstrual date came and went.... (little did I know until I got home).  I only had a vague idea that my cycle was supposed to come on Friday and when it didn't, I figured it would be Saturday.  When nothing showed up on Saturday, I waited for Sunday... Nothing.
My girlfriend was actually going crazy... she wanted me to test - after all, IT should have been here by now....

I arrived home at about 4:30pm Sunday afternoon.  Unpacked my bags, fed Hunter and got settled.  The concern for my cycle began to get to me too!  I wondered... it couldn't hurt to check.  I did happen to have ONLY one more home pregnancy test left since learning I had this genetic mutation.  And so, at 5:00 pm, I went up to Pee On A Stick... (POAS).

Here is the result of that test:
This time I can see without a doubt, it's a positive!

 And knowing this, I will be going for blood work tomorrow to get the actual confirmation.  Along with that, I have to speak with the OBGyn to have the date for the specialist urgently moved to immediate since I don't want to lose this pregnancy before I even have been able to give it a chance.

Now more then ever I will need my circle of support!  I can't bare to think about another loss.  Cross every finger, toes and anything else you can.  I need good vibes this time around!  Note - the only thing I feel as far as symptoms go is EXTREME FATIGUE... but I figured that was the conference!

Speaking of Conference - As I promised, I will post all about it tomorrow!  There is a whole lot to talk about!


  1. Big Congrats and lots of good vibes coming your way from South Florida! :)

  2. Congrats! I will think about you and praying for you. :)


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