Why Doctors Don't Know Everything [Frustrations]

Some doctors and specialists are so terribly stupid, it isn't even funny. I'd really love to know where these people get their medical degrees, or where they go to college, because they really have no idea.

I get frustrated because Doctors pass off these mutations as if their nothing to worry about. 

My Geneticist that I saw said this to me (keep in mind, this is the same geneticist who passed off my clotting mutations as being nothing major to worry about)

"MTHFR is not known to be associated with any increased risk of pregnancy complications or Down syndrome. MTHFR is very common in the general population and there have been many research studies that thought they showed an association between different conditions and MTHFR that have since been proven incorrect. Having two MTHFR mutations may increase the risk for cardiovascular events when someone is an adult but only if that person has elevated homocysteine levels. Your husband should have his homocysteine levels screened periodically by his PCP and treated if they are elevated. You are not at increased risk for elevated homocysteine based on only one mutation so you do not need to be screened for elevated homocysteine any more than a person in the general population and you do not need any treatment for this. As far as the treatment for Lovenox I would talk more with your OB/GYN for the reason for treatment. I imagine that it is due to the history of multiple miscarriages and your factor V leiden mutation not the MTHFR, Any women considering a pregnancy should be on folic acid at least three months prior to conception to reduce the risk of anencephaly and spina bifida. I would also talk to your OB/GYN about her recommendations to make sure that you are on the right dose. If you would like additional information I can mail you some reading material regarding the cardiovascular risks or we would be happy to see you for another genetic counseling appointment."


Last I checked, MTHFR and any methylation mutation is dangerous for the body. MTHFR mutations affect pregnancy, just as much as any other mutation. And Really? Folic Acid for MTHFR? Hello, if I can't absorb Folic Acid, than how the heck am I going to take it, when it can not be absorbed and methylized? Also, last time I checked, after hours of research, MTHFR can cause serious complications such as spinal bifida, neural tube defects, ect. due to not being able to absorb b vitamins properly right? What is this doctor on? lol.

Studies have also shown the MTHFR mutations cause low sperm count and chromosomal damage to the sperm. Which is just lovely to me, because my boyfriend (not husband as everyone keeps calling him)just went to get a Semen Analysis...

I did a Yasko panel and also saw that I had these: 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 and Heterozygous for 3/3 AHCY Mutations, AHCY-01, AHCY-02, and AHCY-19. SNP's are: rs819147, rs819134, and rs819171 as well as Heterozygous for 2/3 CBS Mutations, rs234706 and rs1801181.

So clearly, my body has some issues with methylation right? No one seems to know what effects this has on my body. Is simply taking Metanx enough? or do I need something else? If I don't understand MTHFR how the heck can I explain it to him? If doctors pass it off as it being nothing, he simply won't take any
supplement for it...

Am I exaggerating the effects of non-treatment of MTHFR? Why do people treat it like its nothing?

Another issue that no one seems to be taking seriously is B12 deficiencies. I have found after much research that several studies have shown that B12 deficiencies can cause miscarraiges, AND, Surprise Surprise, that study also showed that B12 deficiency can cause sperm to be low, or damaged. See here: 

Doctors are so dumb sometimes. I have yet to find someone, other than my PCP, whom I have not talked to in a while, to discuss these details with who fully understands them. We shall see what January carries, perhaps an RE who has background in genetics could answer some of these questions. 

Math and Chances of MTHFR Mutation to Future Kiddos

With the recent findings of Alexander being Compound Heterozygous, I turned to a support group to get a better understanding of the math and the risks/chances associated with MTHFR Mutations being passed onto our children.

Our child have will have a 50% chance of having no C677T mutation, and a 50%
chance of having a heterozygous C677T mutation.

Where I have no mutations on rs1801133, but Alexander has one mutation. Our
child will get one normal copy from me, and either a normal or a mutated copy
from Alexander. 

50/50 chance.


Our child will have a 25% chance of having no A1298C mutation, a 50% chance
of a A1298C heterozygous mutation, and a 25% chance of a homozygous A1298C

You have one normal and one mutated copy of A1298C, and so does Alexander. 

The possible combinations are:
My normal + his normal copy = no mutation
My normal + his mutated copy = heterozygous mutation
My mutated + his normal copy = heterozygous mutation
My mutated + his mutated copy = homozygous mutation

In Rare Cases:

Multiple Mutations / Triple Mutations could occur, but that is very rare. 

This is important  to understand because the bottom line of the math on the inheritance probabilities is that any child he and I have has a 100% chance of being either heterozygous for the 1298 or the 677, homozygous for the 1298, or having the compound mutation. Sadly, I am upset about this, naturally, I don't want to pass any of my issues onto my children in the future.

It is 25-25-25-25, that is, 25% 677-Normal, 25% 1298-Normal, 25% 677-1298, and 25% 1298-1298. There is no scenario in which our child[ren] is Normal-Normal. 

What is important to understand is that after one of our child[ren] leaves the nurturing environment of my womb, he or she will continue to need supplementation for the BH4 pathway, or the methylfolate pathway, or both. 

Without that support after the child is born, according to Dr. Ben's theory, the child will have a high likelihood of developing autism. 100% of autistic children have one or both of the 677-1298. 

Ideally, one would probably choose to avoid having the child develop autism. Therefore, the child should be tested at birth to determine his or her genetic status, and then be supplemented accordingly to support normal brain function development.

Alex's Test Results... Well, Some Atleast..

If your following this blog, you know that I had to have Alex get some testing done. His sperm count/semen analysis test didn't get enough fluid to analyze, so he has to re-do the test, and they will have the results by Saturday. *sigh* more impatient waiting to do... and you all know how I love patience...

Alex's doctor also tested him for Factor V and MTHFR and those test results came back today, and he has Compound MTHFR...

I have A1298C, which means that when he and I have children, they have a 75% chance of having A1298C, either Heterozygous, or Homozygous, since both parents have at least 1 copy of A1298C, and they have a 25-50% chance of having Compound Heterozygous MTHFR.

That means our pregnancie(s) are even more "high-risk" now because our risk of having a child that has down syndrome, or neural tube defects is a lot higher...

I don't know whether to be bothered by this, or not. They say a large amount of the population has these MTHFR mutations, and it certainly does explain the memory issues with Alex, and the grey balding ect. but its just one of those, you can never seem to win with genetic things...

What The Holidays Are Like When You Have Experienced Loss

The Holidays are rough, especially when you have experienced the loss of someone close, like a brother or an aunt, but even more so, when you have been trying for a child, after a loss.

For me, this year, I am missing my brother LCpl John Cagle, who died September 28th 2011, and I am missing my aunt Robin, who was murdered on 7 July 2012, and I am especially missing my sweet angel babygirl Kayleigh.

I can't help but feel a little saddened around the holidays. I feel like sometimes I expect too much. First with hoping for a BFP around Christmas, and then hoping my boyfriend of 2 years proposes to me, and then lastly, hoping that no one asks that dreadful question "When are you having another child"?

I am happy around the holidays, but parts of me grieve  Parts of me are sad. Parts of me wish and hope things were much different. I am grateful, believe me, I am blessed, but sometimes it is hard...

Last night, we went to midnight mass at our church, and it was such a joyous celebration of Christ's birth.
Gabriella behaved well enough to where she was able to place the little baby Jesus in the manger, and deep inside my heart was aching, because she was rocking the baby like it was an infant, and she was singing and pretending it was a baby. I would love nothing more than to give her the experience of having a sibling. It was such a bittersweet moment. Gabriella even participated in candlelight mass.

Today, was the celebration of Christ's birth, and today we celebrated Christmas as a family. We went to church as a family, and it again, was a bittersweet moment. During the childrens message, Gabriella belted out "Today were celebrating Jesus' birthday" and everyone just died of cuteness. We spent a few moments at the Pillars house, and they gave Gabriella Christmas Cookies to take home. I went home and laid down for a few hours while Alex spent time cooking the delicious turkey.

My sister Vanessa, brother in law Gregory, their son Hayden and daughter Taylynn came for Christmas which was nice. They live a few hours a way, and so we don't get to see them much. My step-mother and my half-sister Tiffany stopped by, and we exchanged Christmas gifts, and met with everyone for a bit. My dad has not been feeling well, so he ended up staying home.

Unfortunately, with family gatherings comes the "when are you going to have another child" question, which, if you suffer from infertility issues like myself, always comes as a stab, and your forced to put a smile on your face, and say something like "We're trying" or a sarcastic remark like "leave the room, and we will try" to get a chuckle. It is very unfortunate that people don't like talking about things like children they have lost, or loved ones they have lost, because it is a very hard topic. A topic that seems much harder when the holiday photos occur, or the holiday gatherings happen.

At every family photo, I can't help but to feel like something is missing. Kayleigh would be turning 5 in May 2013, and starting Kindergarten that year, and Gabriella would be turning 4 in June, and starting Pre-Kindergarten as well. It pains me to look at the photos and see that something is missing. That something is my daughter Kayleigh. I know she is here in spirit, but it doesn't help fill that emptiness and joy that having her here would.

I remember growing up with my only biological sister, Vanessa, and how close we were. We shared everything together, we were so close people thought we were twins. I remember those days and wish that Kayleigh was still around to spend time with Gabriella and share that same joy that I had growing up. Gabriella and Kayleigh would be close. It is so true when the saying goes "Nothing more special than being sisters, a bond that no one else can understand" and my heart aches, because we try to be happy on the holidays, and we are, but deep inside, it kills me that I am the one suffering with fertility issues, and genetic conditions.

I could get mad at God, be angry, and scream, but my mother chose to keep me as her child rather than abort me, and she loves me so much. I love my daughter so much as well, and would never picture life any different, but my heart aches. How can you be happy when you miss someone so much? How can you be strong.

The holidays come with so many emotions. Kayleigh is not a topic I discuss openly because of all the emotions that come with it, but I did love her, and I still do. I miss her so much it hurts. I can picture it now, seeing her open all her Christmas gifts on the holidays, celebrating moments like firsts, cherishing family events. It hurts, and stings. In a way that most don't understand unless they have been there.

No matter how many times I explain to the people in my family that I have fertility issues and have to see a fertility specialist, and have to treat my conditions and am a high-risk pregnancy person, and no matter how many times I try to put on that smile and be happy, deep inside, there is always something missing. That something is my Kayleigh. We can try for another child all we want, but the loss that we experienced is something no parent should ever have to go through.

Trying to conceive after a loss is such a hard time, especially during the holidays and family get togethers, when the questions are asked. It breaks my heart that I can't just give Gabriella another sibling so easily. Perhaps I am not doing enough. Perhaps I am not ever going to be able to have another child, who knows, but the thing that bothers me more than ever is the question "When are you going to have another child" it wouldn't bother me so much if I didn't have fertility issues, but when the question is asked to my sister and brother in law, and they respond with "I'm ready whenever he or she is" and they know I have been trying for 9 months, and can't just have it happen without the help of doctors and fertility drugs, it bothers me. What is so wrong with my body, and wanting to have another child?

Anyway, I just wanted to vent and get that off my chest. I am bothered because I do have another child, Kayleigh, she just is in heaven. Everyone acts like she never existed, and it hurts me, because I want nothing more than to be able to have 1 or 2 more children, and the pregnancy and childbirth experience that I want. I am sick and tired of being "high risk" but it is unfortunately genetics, and something I can't control...

Happy Holidays!

From our family to yours, whatever you choose to celebrate or believe in, we wish you a happy holidays this year. Remember, this is the time that you spend with others in your family, be close, and love each other. Rejoice, for Christ is born. :) Happy Christmas, and A wonderful new year, from our family to yours. Blessings into 2013, and hope it brings good health, and wonderful things to you all. 

*baby dust*


Well, this is it! I finally have an appointment at Fertility Centers of New England in Bedford, NH set up for January 2ed 2013 at 10:30am. I am nervous, but excited! I am going to go over my health conditions, and hopefully we can have copies of Alex's results by then as well, because I am wanting to see what their thoughts are with IUI vs IVF and that sort of thing. I plan to talk with the doctor about a Histosonogram, because that is something my PCP had mentioned, due to my history. I am wondering if Fertility Centers usually take "high risk" patients, or if they would refer elsewhere. Alex and I decided that Our 1 year of TTC is April 2013, and if we do not fall pregnant by than, we will go ahead and seek IUI-IVF options, which, as you know, are quite costly. Our Credit isn't the greatest, but we were pre-approved for a "No patient left behind" program, which apparently can fund our fertility treatments.

What is Methylation and Detoxification?? What is the significance in mutations such as MTHFR, MTR and MTRR?

In my previous blog, I talk a lot about Methylation and Detoxification and how my body is adversely affected due to my MTHFR mutation. I wanted to cover what methylation and detoxification mean to the body and how having a mutation can cause problems.

Methylation is the passing of a chemical fragment called a methyl group (a carbon atom linked to three hydrogen atoms) from one molecule to another. It is most easily understood by thinking of methylation as a repair process.
So, after free radicals and toxic elements do damage to the molecules in our cells, the process of methylation repairs that damage by inserting new undamaged methyl groups (modular components) into proteins and especially DNA. Our bodies being carbon-based life-forms, need carbon building blocks (methyl groups) in order to be repaired or maintained in working order.
Methylation is heavily involved in the transfer of DNA information, which is the copying of one DNA strand into another. This occurs during cellular replication.
The bottom line is that if you don’t want to grow old in body or mind, you want methylation occurring at an optimal rate. Methylation is one of the best ways to ensure constant repair work to your DNA as well as constant detoxification of dangerous amino acids homocysteine into the good and mood elevating methionine and SAM-e molecules.
Some Methylation Facts:
  • The amount of homocysteine is a good indicator of how “biologically old” a person is (as opposed to chronological age). High homocysteine levels are especially indicated in:
    • Heart disease and stroke (by encouraging clumping together of platelets
    • Higher levels of oxidized LDL cholesterol
    • Dementia and Alzheimer’s
    • Destruction of telomeres
    • Liver Disease
    • Birth Defects
    • Depression
  • It has been shown in studies where methylation of DNA was limited or prevented that mouse embryos would not develop and the process of life just stops (Li, et al., 1992).
  • Low DNA methylation of blood cells is believed to be a cause of autoimmune disease(Yung et al. 1995).
  • Low methylation in humans is also highly related to Alzheimer’s disease and thedevelopment of cataracts.
  • Low methylation results in liver cancer, vascular disease and shorter life span in animals (Salmon and Copeland -1946).
  • Methylation is essential in the making of melatonin (the "sleep" hormone), adrenaline (the fight-or-flight hormone), acetylcholine (a neurotransmitter), creatine (for muscle energy metabolism), carnitine (involved in fat burning in mitochondria), and choline (fat mobilization and cell membrane fluidity)

Methylation is a process by which a gene's behavior is altered, but the gene itself isn't changed. This is almost like following all the directions in baking a batch of cookies correctly, except for the oven temperature. Even though all of the ingredients are the same, those cookies won't bake -- or behave -- the same way when baked a couple hundred degrees lower than they should be.
In methylation, though, the wrong oven temperature is actually other factors, such as environmental exposures or different lifestyle choices. These factors have the potential to cause methyl groups, which are groups of one carbon and three hydrogens, to land on top of our genes and change how they are expressed. This, in turn, changes the ability of our genes to share the directions they contain for making our bodies' proteins.
If your body's methylation is not working at an optimal level it will translate into many different health problems and will accelerate your aging process.
In simple terms it is a process in which certain chemicals called ‘methyl groups’ are added to various constituents of proteins, DNA and other molecules.  These are needed to keep them in good ‘working’ condition.
For example, if the antidepressant, ‘feel-good’ brain chemical serotonin is not methylated it will become inactive which in turns leads to depression!  This is just one of the many ‘chemicals’ in the body that need to be methylated and if they are not can lead to serious health consequences.
Probably the most important methylation process is when it is applied to homocysteine!  Homocysteine is a by product of an important amino acid methionine and is what remains when methionine is used to methylate your proteins and DNA.  Homocysteine needs to be methylated to convert it back to methionine.  If this process does not happen your body is in for some serious trauma.

Homocysteine is implicated in:
·         Heart disease and stroke by encouraging the clumping together of platelets
·         Higher levels of oxidized LDL cholesterol from reacting with iron and copper ions to produce free radicals
·         Dementia and Alzheimer’s
·         Liver Disease
·         Depression
·         Aging in general, in that homocysteine is believed to accelerate the destruction of telemores
But all the above is only part of the methylation ‘story’…
Methylation of certain parts of your DNA can switch off unnecessary genes and prevent abnormal DNA division.  This means that these abnormalities are not passed on to future generations of cells…a most important component in successful aging.
As we age the methylation processes in our bodies start getting ‘tired’ and become less efficient with a resulting build up of homocysteine, DNA damage and the development of other flow on effects such as depression.
Therefore, if you don’t take steps to ensure balanced methylation then any hope of a long life free of degenerative diseases is only a remote possibility.
As with everything related to successful aging, methylation must be balanced.  Too much can be as bad as too little.  Fortunately your body will balance your methylation processes providing that you give it the ‘fuel’ to perform the task.
What is the fuel?
There are three groups of compounds that are helpful in methylation with varying levels of efficacy.  They are the B Vitamins, B6, B12 and folic acid, Tri-Methyl-Glycine TMG, (also known as Betaine), and SAMe.
The B Vitamins are important but more in the capacity of co-factors rather than being a solution for methylation in their own right.  This is because as we get older these vitamins tend to become a bit ‘sluggish’ and as such progressively less effective.
By far the most effective methylating agent is SAMe which stands for S-Adenosyl-Methionine and is a natural chemical found in all living cells.  It is formed in the body by combining the amino acid methionine and ATP (adenosine triphosphate). The science confirming the effectiveness of SAMe as the best methylating agent is indisputable.
It can be taken as a supplement but it is not readily available for two reasons.  One is that it MUST be taken in enteric coated form because SAMe is particularly susceptible to stomach acids and two that it is very expensive.  
The issue with people who have MTHFR, MTR, and MTRR as well as other methylation mutations is that your not giving your body enough fuel, and so the build up of toxic chemicals is causing you to age more quickly... Sounds fun huh?

Detoxification is the process or removing harmful toxins and free radicals from the body. Without methylation and detoxification, you would die in just a few days.

A person’s rate of methylation (high, medium or low) is synonymous with youth, middle age or old age. If there was any one single marker that best describes how fast you are growing old it is your rate of methylation. So, keep your methylation rates high.

So now does it make a little more sense to you how MTHFR, MTR and MTRR Mutations can be dangerous?

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.

Late Ovulation....

This month is weird .. I got my positive OPK on CD27, yesterday.

Usually, I get them on CD14. My BBT charting shows my dip in temperature today, and so sometime today, I believe I will be ovulating. Take a look:

Weird right? I guess I will have to wait and see what happens.

Visit With High Risk OBGYN

Now that I am home, and not on mobile, wanted to give everyone an update on my appointment.

I am concerned because I have not been ovulating and my cycles are still all over the place. 

As you know, I have clotting disorders and MTHFR. With the MTHFR, its a complicated gene. MTHFR stands for "methylenetetrahydrofolate reductase." 

Factor V is a mutation of one of the clotting factors in the blood called factor V. This mutation can increase your chance of developing abnormal blood clots (thrombophilia), usually in your veins. In this disorder, the Leiden variant of factor V cannot be inactivated by activated protein C.

MTHFR is an enzyme that helps process vitamin B9, which is also called folic acid or folate. Folate helps the body breakdown, use, and make new proteins.

One of folate's most important jobs involves changing an amino acid called homocysteine into another amino acid called methionine. Both of these amino acids are essential for many body functions. However, having too much homocysteine may raise your risk for a number of health conditions. 

As you know, folic acid is essential in preventing genetic chromosomal abnormalities, and allowing fetus' to be viable in pregnancy, and so having MTHFR complicates things even more... with MTHFR, pregnancy loss, recurrant pregnancy loss, stillbirth, and placental abruptions, as well as pre-eclampsia are complications. 

I feel as though the doctor was nice, but that he kind of rushed (general feeling with all doctors) I had a long list of things for him to go over, and he kind of spent an initial in and out. I am going to re-mention some of these at the next visit, perhaps the reason he didn't ask for explanation too much is because my 5 m/c and 1 stillborn was with my ex, the father to my present 3 year old daughter, so totally different ballgame now. Or it is likely, that perhaps he misunderstood me, but he asked me why I am going to be seen in his office, and I told him well, my PCP, Endocrinologist and Hematologist reccomended I seek a high risk obgyn. 

I have PCOS, Diabetes and Thyroid issues, and have a lengthy history. I told him I had 5 miscarraiges, and he didn't even ask about my stillborn (I'm somewhat glad he didn't, but I figured it would be worth the pertinent information, especially where she had a heart defect) I told him I have a 3 year old daughter from a different relationship, and she has an ASD, and that I was induced with her because she had the heart defect, and I had GD and pre-e (protein in urine) and than he pretty much said a few things:

1. My boyfriend needs to have his sperm tested. The reason for this is because it would be pointless to go any farther into my history if the problem is him. He is going Friday to talk to the doctor about it.

2. He wants to see me back when the testing from my boyfriend is complete, in approx. 2 months. However, there are a few things I am confused with. Is a fertility specialist different than a high risk obgyn? Can a fertility specialist deliver babies? I ask because my PCP wants me to see a fertility specialist. in 2mos which is out of pocket, and really expensive.

3. He said that when I become pregnant, I would end up needing Lovonox Injections and would be high risk. He wants to wait for clomid until after Alex is tested.

4. Between my OBGYN, Endocrinologist and PCP, they all say I need a fertility specialist, but none of them have prescribed me clomid. Perhaps by fertility specialist, they are meaning someone who specializes in high risk pregnancies?

5. He wants me to fax my records over to them, because they do not have them on file. (I am going to do that now)

6. He wants to eventually wean me off some of my medications because I am on a long list of them, and it is not good for the baby, and could also be affecting fertility.

He said it is a good thing I have my daughter, and I told him, I agree, so we wait, and see him in 2 months in January after Alex gets his swimmers checked...

I think once I become pregnant, the fear of maintaining the pregnancy and avoiding the loss will become imminent... I remember with Gabriella getting past certain points made me happy... but I worry... I never thought that TTC would be so complicated with all these health issues... and I feel its not fair that Alex has to just tag along, because he is healthy and wants a child, he has to go through all these testing things too...

So now we wait....

*baby dust to all*

Something to ponder on....

We all parent differently. We all have different views, so why can't we be more accepting of others?

23 and Me Testing...

I spent the $299 to get testing through 23andMe last month, and it was very nerve wracking to wait to find out my test results. 

I got the email that they received my results on 11-8 at their lab. On 11-20, I got my e-mail showing that my results are ready. 

The results showed that I have a high risk of thrombosis. This is due to FVL and another mutation called MTHFR. 

23andMe uses what is called SNP's for their results. 

So I searched for groups dealing with MTHFR to have them decipher my results, and this was what they said:
Heterozygous for A1298C Mutation

That put me with ~43% of the population that has 1 mutation on either of the SNPs.

So what now? Now, I need to educate me on what MTHFR is.

I felt no need to do so previously, because I had never been tested for this, but it is apparent that I have it.

The rest is very complicated and complex. I will speak to my new high risk obgyn about his thoughts and update you with a blog.
My cycles are still all over the place...

*baby dust*

TTC as "high risk" and Frustrations.

So, as most of you who have been following my blog are aware, I changed my Endocrinologist to an Endocrinologist at Elliot Health Systems, and he is great. I also reviewed the lab work with my PCP and she has officially diagnosed me as a diabetic, type 2. She said she wants to re-run labwork in 1 month to see where things stand. I am excited that I have a good team of doctors finally, but I am saddened with my health.

It frustrates me to no end. People always saying "Stop trying, than it will happen" Obviously, you don't know anything about PCOS or how it affects those of us TTCing. We have officially been TTC for 8 months now, and on Metformin/Riomet, and Synthroid for 5mos. If you want to "officially" count the days we have actively been trying, it is around 4-5mos. We had a few bouts where, due to my health, we took a break. But that obviously is stated in previous blogs, either way, we have been "trying" for a baby since April 2012.

So I am frustrated. It is easy when everyone around you is able to just get pregnant, and it is easy for me to pretend like I am not bothered, but some days, I cry. I breakdown, I scream, because this HAS been a VERY long journey for me.

Lets face it, I am 23. Most 23 year olds don't want to settle down, and have kids, but I have the mentality of a 30 year old, because I have wanted kids, and had them at a young age. Society today, rushes you into these things. No, I am not married, but I am in a very happy relationship with my boyfriend of almost 2 years, and WE want a family. He says he has a plan to marry me, and so I trust in my heart, he will when he is ready. But sometimes, I am VERY sad. I am sad to go to baby showers for friends, sad that my friends are having babies, saddened when others ask us when we will have kids. Everyone ASSUMES Gabriella is Alex's and she might as well be, because she looks up to him as her daddy. She is cute, at the age of 3, she calls Alex her "daddy" and Jason her "dad" and she can distinguish between the two. I think it is neat, because she can still have both in her life, and understand the difference, but she also asks questions like "Why can't alex take me to the doctors" or "Why cant I go to dads house?" and it breaks my heart. 

I know I should be happy that I have Gabriella, and I am. She is my miracle baby, and she amazes me. Sometimes its a struggle, but its totally different, because for Alex, he wants to be a first time dad, and he is active in Gabriella's life, but no matter how we try to make it feel like she is his, legally, and biologically, she isn't. So for Alex and I to actually create a baby, is something that we want so badly. Alex tries to understand PCOS, but I don't think he truly understands.

I have had a LONG journey with PCOS, and there are days I want to kick PCOS to the curb, and say Get out! I want to be able to live my life, without the stress of medications daily, and be able to concieve a child without the help of doctors. I want to do what a woman's body should be able to do.

PCOS frustrates me! I was first diagnosed at the age of 11, thrown on birth control until 16 or 17, and have had a struggle since then. 

I have the type of PCOS that comes with Insulin Resistance, and Hypothyroidism. I also have the lovely Acne as apart of this, but don't have any of the hair growth, and I have several cysts on my ovaries. 

As a result of PCOS and other illness' I have had 5 miscarraiges, and 1 stillborn at 23 weeks gestation. Alot of people are like "Wow, do you actually have PCOS?" Uh... just because you can get pregnant, doesn't mean you cant have PCOS. PCOS is a metabolic, endocrine, and reproductive disorder that affects all the hormones of your body, and all the systems too. Some people have cysts, others do not. It affects everyone differently. It bothers me when people say "You should just be happy that you have a child" Uh... I am happy, but you don't understand my want for a child, because your not in my shoes.

BUT the reality is YES, I have a wonderful 3 year old daughter, that was my miracle, and she was conceived on Metformin (birth control failed, which was Lo-Orval and Non Latex Condoms, along with a lovely dosage of antibiotics and the metformin is probably what caused me to conceive her) Not planned, but wonderful to have as a blessing. 

BUT my three year old also has health issues. It is not anything I would wish on anyone. YES, She has special needs. She has Aspergers Syndrome (A type of Autism Spectrum Disorder), and she unfortunately inherited my Factor V Leiden Gene, so that puts her at a higher risk of clotting. She also has an Atrial Septal Defect, and in the future will require some form of open heart surgery to fix the hole (Docs say something like 4-6 years from now they will re-evaluate this) 

I sometimes blame myself, because she was not planned, and think that had I known right when she was conceived  I would have stopped medications that put her at risk of these things, and would have done things to prevent health problems, but I have realized, that it could be, or couldn't be, regardless, she is here, and is my daughter, and I love her regardless. 

BUT the reason why I feel we need to PLAN our pregnancy with our child is because I want to PREVENT all of these things, because the fact of the matter is I WILL REQUIRE Lovonox injections from the time of conception, more than likely will require insulin, and have other complications. I HOPE to be able to acheive my birth the way I want, not like Gabriella; but accept that I may have to modify that a bit. BUT because I AM AWARE of these things, that is why I feel I need to plan.

I am considered a "high risk" TTCer. I have an Endocrinologist, and a High Risk OBGYN. Recently, as discussed in other blogs, we switched practices, because one of our Endocrinologists was never there, and it was terribly hard to get an appointment to discuss results with her, and the high risk OBGYN we had was very... unsupportive of what we were wanting with our TTC adventure, and she kept bringing up my stillborn, and I didn't really want to discuss that.

We have been TTC for 8months now on and off (April 2012 was when my IUD was removed) We're considered "high risk" because of my history with miscarriages and my stillborn, BUT ALSO because I have a large list of medical issues. These medical issues were never thoroughly discussed in this blog, so I figure why not, I can bring them up, so you know what I am facing.

I have clotting deficiencies which affect my bodies ability to sustain the pregnancy. (Clotting Disorder and MTHFR) and I am in remission (I had acute promylocytic leukemia and fought with chemotherapy and an ATRA for months) I also have low vitamin A, B and D, along with iron so I have to take vitamins. I have Borderline Personality Disorder, Generalized Anxiety Disorder and PTSD, and So these health conditions in combination of what PCOS has given me, makes it fairly hard :( 

The Endocrinologist I see now is really supportive and recently told my boyfriend and I that we need to know the risks associated with TTC with a TSH of 5+. He was great, and went over the risks. We are not necessarily "trying" but still are at the moment, but the big thing is that we get my TSH back down to where it needs to be... the last thing we want is another miscarriage. 

My Primary Care Doctor is referring us to a fertility specialist in January 2013 because I had tested positive for chlamydia back in Sept f this year, and was treated, but my boyfriend of 2 years didn't have it (he was tested, and then after they swabbed, he was treated as a precaution but his results came back normal) and it was thought that if I had chlamydia for 2+ years, and didn't know it because I was not getting routine STD checks, that it could cause some issues with my tubes and "plaque" can build up and close off my tubes. She wants to order a histosonogram. It should be fairly interesting to see what the histosonogram reveals. But I am not even too sure what the difference between a fertility specialist and an endocrinologist are anyway. The Endocrinologist said we do need to see a fertility specialist. 

So, YES, TTC and Planning a pregnancy are things that I feel NEED to happen. I have come to terms and accepted it will not be an easy road, but it would be nice for me to say "Hey babe, I have a surprise for you. I'm pregnant, and we did it ourselves" and not "Hey babe, the Clomid worked, we're pregnant" if you know what I mean. 

Regardless, whenever we become pregnant, that will be the happiest moment of our lifes. :) 

Woohoo! Liquid Metformin was approved!

Even though aunt flow is here, I am still excited. I thought it was going to be very hard to get the doctor to change me from the pill form of metformin to liquid form, but it was not as hard as it sounds.

At first, he called Rite Aid, which is my pharmacy of choice, and they didn't carry it, so he was referred to Bedford Pharmacy, but Bedford Pharmacy was a specialty pharmacy, and didn't take my insurance, so he was referred to WalMart.

Greatfully, WalMart carried it. I was not too sure what "1 Gram" of Riomet equated to, but the doctor prescribed 20ml a day, for 2 weeks, and than 25ml a day from there on. The pharmacist explained that the 20ml equated to 2000mg of the pill form of Metformin. He explained I would take 10ml in the morning, and 10ml at night, to total the 20ml. Than after 2 weeks, change it to 25ml in the morning. He explained to take it with food or a drink, because it is liquid form, and it is different.

So I am excited it was approved through my insurance. It reminds me of the taste of liquid codeine cough syrup. It is cherry kinda taste that you know is medication.

I have not had any of the unnormal side effects, just that I have the diarrhea with it, but that is to be expected. The hope is that this will help lower my blood sugar. I also have to monitor my blood sugars 3 times a day, lovely... but I have to accept this new lifestyle, since I am a Diabetic.

The doctor wants to re-run lab work in December, to see where things stand. She was also quite concerned with a few of them, as was I. I suppose being in the medical field has its advantages and disadvantages.