Why Most People Question....


Genetic mutations suck, that is for sure. Especially when people don't research them and automatically assume that it is dangerous. Like PCOS, their not curable, but their treatable, if you know what your dealing with and how to deal with it. 

Most people don't even know they have genetic mutations unless their doctor tests them for it. A scary statistic
that's for sure. Many people who have MTHFR also have FVL. I think they say the risk for autism is 1 in 1000. For CHD's it is 1 in 100. 

All of these are statistics. People who have babies with Down Syndrome, or Autism, or CHD's don't ask for their children to be that way. Often, their like me. They do everything in their power to prevent such an occurance from occurring. It. Just. Happens.

With FVL, between 3-8% of people have it and don't even know they have it, nor do they ever experience a blood clot. The rate for that, is around the same for those who have other clotting deficiencies. I happen to have 2 on the same chromosome, and that is why most people have MTHFR and FVL, because it is the same chromosome. The other 2, are on separate chromosomes. Factor 1 is on the long arm of human chromosome 4. Factor 2 is on chromosome 11. It is very interesting to me to find that on each of these chromosomes, I have other developed conditions that exist.

Several types of cancers, autism, and anemia's occur on chromosome 11. 
Syndrome X, Deafness, Congenital Hypothyroidism, Factor V, Gaucer Disease, Hemochromotosis, Parkinson's, Several Cancers and other conditions occur on chromosome 1.

Huntington's, Parkinson's, Hemophilia, and other conditions occur on chromosome 4.
With MTHFR, it occurs on chromosome 1. MTHFR causes a lot of conditions. To name some: Autism, Depression, Down Syndrome, Miscarraiges, Schizophrenia  Stroke, Spinal Bifida, Bipolar, Congenital Heart Defects, Migraines, Diabetes, Alzheimer's  Hypertension, Heart Attack, Asthma, and the list goes on. You can see that list here: http://mthfr.net/mthfr-mutations-and-the-conditions-they-cause/2011/09/07/

That list in itself, is in conclusive.

When someone is diagnosed with anemia, you don't question why that parent had a child do you? Most people don't think outside the box like I do. When I get a diagnosis, I go and research causes, and 99.9% of the time, it is due to a genetic reason.
 

With everything, There is risk.. the risk that these mutations could cause things like heart defects, down syndrome, and autism and other risks as well, but that is a risk you have to be willing to take when your wanting to be a parent. Would I change my love for my child if they developed special needs? No. I do it now, Gabriella has a congenital heart defect, anemia, and she also has aspergers syndrome. I love her the same.

My point is.. I understand what I am dealing with thoroughly. I understand the risks associated with TTC when I have these diseases and disorders. It is for that reason that I am high risk and being monitored more closely.
 I understood the risk when I had leukemia, wasn't in remission and was TTC. I understand the risk now that I am in remission.  I understand the risk associated with my MTHFR. F1, F2, and F5 mutations. I can't control my genetics, but what I can control is prevention.  
Preventing any miscarraiges, or stillborn from occurring. If I go out of my way to prevent anything from occurring and it happens, I cant blame myself, because than I will say I tried everything in my power to prevent a genetic condition or downs or anything else from occurring.
If I didn't go out of my way and prevent the above things from happening. If I didn't go out of my way and take my medications, and everything I am supposed to do, not only would I be negligent, but I would be careless, and would be putting myself at risk, and also an unborn fetus, and I am not willing to do that. 

SO YES, I am preventing these things, and am doing what I am supposed to do.
 
I guess some people don't understand the reason why despite the odds that are against me, why I still want to TTC.

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 several clotting disorders and MTHFR. With the MTHFR, its a complicated gene. MTHFR stands for "methylenetetrahydrofolate reductase." 

My Factor I is known as hypofibrinogenemia. Treatment of this is cryoprecipitate, which is a type of protein in a plasma, that is given in a blood transfusion, when my fibrinogen falls below 100. We need fibrinogen to be over 100 to maintain proper homeostasis. 

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.

Lastly, 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:
Homozygous 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 Mirena IUD was removed) We're considered "high risk" because of my history with miscarraiges 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 several clotting deficiencies which affect my bodies ability to sustain the pregnancy. (Clotting Disorders and MTHFR) and I am in remission (I had acute promylocytic leukemia and fought with chemotherapy and an ATRA for 5.5 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 June of 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.

Follow Up with PCP for Recent Labs...

For those of you following closely, you know that on November 1st I ordered labwork, and got the results back, and they did not look good. I got my Insulin results back yesterday, on the 5th, and that was HORRIBLE. It was almost 4 times the normal range. I was quite upset, and my jaw dropped. Not only was my TSH through the roof high, but I had glucose in my urine, elevated glucose, and my Cardio CRP was deadly high. Being from the medical field, and knowing signs and symptoms of what these labs mean, I knew that things were not looking good, and it was also probably why I had been feeling so shitty as of late.

So because I was so worried, I called my primary care doctor yesterday and scheduled an appointment ASAP to discuss the results with her. Most of you know that I have had REALLY good experience with her, and she is very supportive and I like her alot. I think she was somewhat shocked to see me back after 1 week. I had mentioned to her that the reason I ordered the labs was because my sleep study results showed that I have mild Aeneas but not enough to treat, and not enough to cause significant fatigue, and that I was curious what the levels were, and also the insurance only covers them so often as she had said, so I ran them to see where they were. She understood wholeheartedly. 

The first thing I had her run was a pregnancy test. Ironically, it seems every time I am even close to getting a visit from AF, I have signs that all mimic pregnancy. In knowing what very high TSH results can do to a fetus who is developing, I was concerned. Concerned for my health and concerned for my "potential" fetus. Of course, if I had managed to get pregnant with a TSH as high as it was, I'd be shocked.  Results: Not pregnant. 

My PCP reviewed my labs and thinks my A1C is normal because it's over a period of 6 months and I've been on Metformin for that long. She thinks if I was not on metformin that it would be diabetic level. 

She has officially diagnosed me as diabetic thinking it is type 2 but if my lR continues to elevate she will run tests on it to determine if it is type 1 or 2. She said if my body doesn't get insulin I may need insulin and be dependent on it. 

I also changed endocrinologists. My Endo is now through Elliot instead of Dartmouth Hitchcock. The doctor was very nice, and reviewed history and lab results and He said 1. TSH is way too high and I need to take 100mg of Synthroid a day 2. He advised of troubles with TTC with TSH as high as it is and said if I become pregnant to see him asap. 3. He said I need to see a fertility specialist because the chlamydia for 2 plus years could have caused damage 4. He said I have a very complex history 5. He said he will check on switching me to liquid metformin as it will be easier for me to take. The brand of liquid Metformin is called Riomet. I would take 20ml to 25ml a day. 6. He agrees with the diabetes diagnoses. 

So the bad news: I am now officially diabetic and my thyroid is out of wack. I am not advised to TTC during this period as it can be dangerous. I am not pregnant *sadface* and I am at risk of a heart attack due to my cardio level in my blood, but that is going to be closely monitored.

Good news: Finally a good team of healthcare professionals. Yes, I have PCOS and am indefinably have insulin resistance. 


PS, Aunt Flow came to visit me today. So maybe my cycles are becoming more regular. Who knows *shrug*