Updates, Updates...

Sorry it has been a bit since I have last posted. I have been busy. It always seems to be busier closer to this time of year. I did want to update you all, and let you know where things left off.

In my last post, you all read that I ovulated late. I started getting weird symptoms around 7DPO that made me really think I was pregnant. You know, the breasts being sensitive, the nausea, the heartburn, all things I had never had. From 7DPO to 10DPO, I had some weird cramping, which made me think implantation. I started to get excited that this was our month, and what a wonderful Christmas gift that would have been! Boy... was I wrong...

That bitch, aunt flow... she decided to ruin my hopes and dreams, and she came and crashed my world down. December 13th, 10DPO, the cramps worsened, I started spotting, and awoke with Aunt Flow visiting. I must admit, this month was a bit off, as far as ovulation, and then my visit from aunt flow goes. I do have to wonder if my late ovulation was due to hormones being off, or if something else is going on with my body.

Anywho... Aunt Flow visited from December 14th to December 17th, and I really was not in the mood for anything that week anyway. It was finals week for college, and I needed to push myself to get at least a B in all my classes. That worked out so lovely... I got a C+ in Chemistry, A B+ in College Comp, and an A+ in Abnormal Psychology (Can you tell what class I enjoyed? lol) which gave me a 3.09 term GPA. I am glad I got at least a 3.0, because honestly, I was DRAINED this term. Between all the doctors appointments, working full-time, stress, hormone issues, and college full-time, it was surprising I even had time to myself. I am somewhat glad Aunt Flow decided to leave early, because I had my nursing exam. I am upset however, because I missed the candidacy score by 10% and so I have to wait until Fall 2014 now. But the good news is that I will be able to take the test 4 times this year. So I have a good chance at being able to pass the test.

I am excited for a cycle, and a new year, but it was very hard having it be 8 months since we have been trying. It was 8 months on December 13th 2012.

In January, my PCP will be ordering a hystosonogram, and I will be asking her about Clomid/Femera. I also plan to ask her why my TSH fluctuates so much. I plan on asking her the following:

1. Why does my TSH fluctuate so much?
2. Do you think that my symptoms could be related to Adrenal Problems and am going to ask her to run tests for this.
3. Can you prescribe Femera/Clomid? Can you order a HSG?
4. Can you prescribe me Metanx, as I have MTHFR Mutations?

That is pretty much what I am going to ask her.

I have a pretty busy schedule in January. I have a Diabetes Counseling Nutrition Appointment at 2pm on January 4th. I have an appointment with my Endocrinologist on January 8th at 10:30am, on January 10th, I have an appointment at Mass General Hospital with my Hematologist-Oncologist, and on January 29th, I have an appointment with my PCP for my fertility issues. As previously stated, I am going to try to get an appointment sooner to see my PCP to discuss these things. I am also going to be mentioning my MTHFR Mutation to my Hematologist-Oncologist, and getting her thoughts. I am going to explain to her what my high-risk OBGYN has said about needing Lovonox, and get her views regarding this stuff.

In other news, I got a Yasko Methylation and Detoxification Panel done, because I was curious what other issues my body could genetically have, and it showed this:

Heterozygous for 2/3 COMT Mutations. The SNP's are: rs4680 and rs4633.
Heterozygous for 2/2 VDR Mutations. The SNP's are rs1544410 and rs731236
Heterozygous for MAOA rs6323
Heterozygous MTHFR 1/3 The SNP is rs1801131
Heterozygous MTR Mutation rs1805087
Homozygous, MTRR Mutation 1/5, SNP is rs1801394
Homozygous, MTRR-11 Mutation, 1/1, SNP is rs1802059
Heterozygous for 3/3 BHMT Mutations, BHMT-02, BHMT-04, BHMT-08. SNP's for these are: rs567754, rs617219 and rs651852
Heterozygous for 3/3 AHCY Mutations, AHCY-01, AHCY-02, and AHCY-19. SNP's are: rs819147, rs819134, and rs819171
Heterozygous for 2/3 CBS Mutations, rs234706 and rs1801181

Now, as far as those questioning 23andMe for MTHFR Mutations and if their correct, Homozygous A1298C = "GG" at rs1801131
Homozygous C677T = "AA" at rs1801133
Compound Heterozygous = one "G" at rs1801131 plus one "A" at rs1801133, therefore, Heterozygous A1298C would be 1 G at rs1801131, Heterozygous C677T would be one A at rs1801133, and Compound Heterozygous would remain the same, with one G at rs1801131 plus one A at rs1801133.
It is indeed accurate, because I am Heterozygous A1298C (which I already knew)

I did some research on these genetic links, and found out the following:

Catechol-O-methyltransferase (COMT) is one of several enzymes that degrade catecholamines such as dopamine, epinephrine, and norepinephrine. (COMT) inactivates dopamine, epinephrine and norepinephrine in the nervous system. I have 2/3 Mutations in COMT. This explains why I suffer with mental health issues. Dopamine, Epinephrine, and Norephinephrine are decreased in several mental illness. It also explains my crappy pain tolerance...

VDR stands for Vitamin D Receptor. Mutations in this gene are associated with type II vitamin D-resistant rickets and generally individuals are resistant to Vitamin D, or have trouble absorbing it. That would explain why my Vitamin D is always low despite being on 100,000 IU's.

MAOA or Monoamine oxidase A is an enzyme that degrades amine neurotransmitters, such as dopamine, norepinephrine, and serotonin. The protein localizes to the outer mitochondrial membrane. Its encoding gene is adjacent to a related gene (MAOB) on the opposite strand of the X chromosome. Mutation in this gene results in monoamine oxidase deficiency, or Brunner syndrome.

MTHFR or methylenetetrahydrofolate reductase is to blame for easy bruising or clotting issues. It has also been associated with pregnancy issues and being able to maintain pregnancies as women will not be able to support their own folic acid levels and a baby's. Occasionally it will be a little more serious and can cause early heart disease resulting in heart attacks as early as late 20's (if not treated). On rare occasion a bad combination of the 50 MTHFR genes will pair up and a person will end up with the inability to process metals and sulfates. The metals will deposit directly into their brain causing Autism, and sulfates will raise a naturally occurring homocystine levels to toxic state which destroys nerve and muscle tissue. There are 3 known types of MTHFR. The first is MTHFR-A1298C, MTHFR-C677T and then Compound MTHFR. Compound MTHFR is where you have one copy of each mutation. People with MTHFR have issues with absorbing or maintaining folic acid so they have low levels of it and their homocystine can get out of control. Also to blame is a B vitamin deficiency, and a gambit of B vitamins. People with MTHFR also have to avoid all metals and sulfates, including vaccinations (flu has thermerisol and those that don't have aluminum).  There is also a long list of medication we have to avoid that raise homocystine levels (seizure medicine), lower folic acid, or could kill us because her body can't process it (Nitrous Oxide). Treatment for MTHFR is generally Metanx or Deplin, however most doctors prescribe Metanx, as it has everything someone with MTHFR needs.

MTHFR is a problem causer for me. Those who have been following this blog know that I have  Factor V. Factor V can be blamed for miscarriages in second and third trimester, but those in first, were more than likely due to MTHFR. I have to take methylfolate for it...

The above photo is a really good example of what happens when someone with MTHFR takes Folic Acid, and why Metanx is a good choice.

MTR Mutations are also where issues come into play. MTR is also known as 5-methyltetrahydrofolate-homocysteine methyltransferase. The MTR gene provides instructions for making an enzyme called methionine synthase. This enzyme plays a role in processing amino acids, the building blocks of proteins. Specifically, methionine synthase carries out a chemical reaction that converts the amino acid homocysteine to another amino acid called methionine. The body uses methionine to make proteins and other important compounds. To function properly, methionine synthase requires methylcobalamin (a form of vitamin B12) and another enzyme called methionine synthase reductase, which is produced from the MTRR gene.

Now, if you have been following my journey as far as clotting goes, you will understand that a build up of homocystesine in my system is not good. I already know my cardiac c-reactive protein is extremely high, and that if my homocystecine elevates, I am at a HUGE risk of blood clots. MTR Mutations are dangerous for MTHFR, and for anyone in general, and MTR Mutations also explain why I can not tolerate laughing gas well, because nitrous oxide is deadly to my body because of the build up of methionine synthase. Here is the tricky part. Homocystesine is a toxic compound from the amino acid methionine. Homocystesine build up causes blood to increase in coagulation by inhibiting fibrinogen.

Next Up, we have MTRR or 5-methyltetrahydrofolate-homocysteine methyltransferase reductase. Notice it has the same name as the above does? It basically does the above as MTR, it just is an enzyme that promotes the chemical reduction of a specified substance. It would only make sense for someone with MTHFR, to have MTR and MTRR mutations as well. I could not find an MTRR-11 gene, but I am presuming MTRR and MTRR-11 are just different variations for mutations of the gene.

Next Up, we have BHMT, or Betaine--homocysteine S-methyltransferase which is also known as betaine-homocysteine methyltransferase and this gene mutation is a zinc metallo-enzyme that catalyzes the transfer of a methyl group from betaine to homocysteine to produce dimethylglycine and methionine respectively. We already know that I have issues with homocystesine, and methionine, so it would only make sense that I have these mutations as well. BHMT is expressed most predominantly in the liver and kidney. Anomalies in homocysteine metabolism have been implicated in disorders ranging from vascular disease to neural tube birth defects such as spina bifida.

Than we have AHCY. AHCY stands for adenosylhomocysteinase. I did not find too much information about this mutation, other than it dealing with toxicity.

Lastly, we have a CBS Mutation. CBS is cystathionine beta synthase and it is an enzyme that converts homocysteine to cystathionine. The two most common mutations in the CBS gene are
the G919A and T833C substitutions resulting in a serine for glycine at amino acid residue 307 and a threonine for isoleucine at amino acid 278, respectively. Patients with the T833C mutation can respond to pyridoxine therapy,  whereas, patients with the G919A mutation do not respond to pyridoxine  therapy. Thus, identification of these CBS mutations would help in the  diagnosis and treatment of homocysteinemia.

Obviously, I have only SNP's associated with all of these, but I have no idea what the actual mutation is. What I have gathered is that my body can not absorb folate or folic acid well, and needs methylfolate. Nor can it absorb B or D Vitamins or iron very well, and that I also have mental issues due to having genetic deficiencies and mutations.

I've also understood that my risk of having a child with Autism and Downs is much higher due to this, and also understand that I may pass these onto a child. I plan to ask my daughters pediatrician or her hematologist to test her for MTHFR as it may be useful in understanding that she may have issues absorbing the same vitamins. If her pediatrician refuses, I plan to switch her to my primary care doctor, if they are able to see children. I am not too sure if they are able to or not, that is another question to ask my doctors.

I start my OPK testing on 12-23-2012. That is CD10 for me. I should ovulate around Christmas or just after, so we will be getting our "Christmas dancing" on. I just want to say in advance that I will find it HILARIOUS if I get pregnant on or around Christmas, because that would mean I may find out the same time as my sister Vanessa did this year. Our family has a thing with sharing birthdays and death days for some reason.

I also have been on the hunt to find a doctor who might support my decision of non-inductions. I do not want to be induced. I wish to have a 100% natural water birth. I understand that I may end up having a large baby, but I really do not want any medications at all. I want to experience natural childbirth in a birthing center, or hospital with a water birth. One thing on my to-do is to find out if Elliot Hospital still has Water Births. I know they used to in 2009 with my daughter. We also plan to hire a doula, who can be supportive of our decisions and advocate with us while we are in the hospital. I am planning ahead as you can tell. I am really wanting to concieve without having to do IUI/IVF but we shall see where the Lord takes us with that one.

Here are what my charts look like:

Previous Cycle, November 2012

Current Cycle, December 2012

It has been hectic. That is for sure. This month makes 7 cycles charting. Last month, I got so excited because I could see my implantation dip. I never used to think about all this stuff, and how it affects fertility and stuff, but now that I have PCOS, and infertility, as well as MTHFR, it becomes apart of my regular life.

Alex had tests done for thrombosis, and MTHFR, he also had a sperm count and semen analysis done, and we await those results. Once we get them in, I will post an update. My High Risk OBGYN did not want to discuss treatment options until he was tested, as almost all my previous miscarraiges were with previous men. He thinks that it might be wise to test Alex, as he is the person I am with now, and the miscarraiges are my body, but the fertility aspect may come from him, so we want to rule that out first, so that is what we are doing. I am hoping for the best here.

Pretty much it for my update! Work changed my schedule so I have 4 days off, and work 3 days, which is nice. Much more time with my daughter now.


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