Advertisements

MTHFR Gene Mutation Test Results

MTHFR Gene Mutation Test Results

Today’s post will make more sense if you read my last one. So rather than recap everything again that lead up to these results you can go ahead and read that one by clicking here. I may have called the clinic three times to ask about my results over this last week. No one seemed to have a time frame for me of when to expect the results and they said, “This test takes a little longer.” 

 

Finally my doctor called when I was in a Wendy’s drive through with my Mom who was driving, I was visiting her that day. I had my phone up to my one ear, and my finger in the other ear trying to block out all the unusually happy workers inside who were all laughing hysterically about something for what seemed like five minutes straight while I was on the phone trying to hear what he was saying.

 

“You tested positive for the MTHFR gene mutation,” he said. He went on to explain some details that I wasn’t able to grasp in the moment, probably due to a combination of not hearing him and not actually processing all the info. I had to call him back later to actually write down what he was trying to explain to me. He said I have the “MTHFR gene mutation C677T heterozygous single version.” He thinks that some of my miscarriages may have been caused by this gene mutation. Essentially, when you have a MTHFR gene mutation your body cannot process folate well, which is an incredibly important vitamin that helps the baby grow properly. 

 

I had very conflicting emotions with this news, mostly a combination of anger and relief. I was so angry that none of the doctors had realized this earlier, and that one doctor mistakenly told me that I was negative for this gene mutation when she really meant to say I was negative for Factor Five. So I went on to tell my next doctor and several other medical teams I was working with that I did not have MTHFR, going off what she had told me. Sadly, none of these doctors thoroughly looked into my file. Had they done so I may not have had to deal with 2.5 years of five miscarriages and paying for IVF. 

 

I’ve heard stories of women who’ve suffered through many miscarriages before their doctor tested them for MTHFR gene mutation. When they discovered they had it, they were put on the proper medication and vitamins and boom…they have a healthy baby in their arms. I pray it will be that simple for me as well, but I also have Low Ovarian Reserve so it probably won’t be that easy. On the other spectrum of my emotions, I am feeling so much relief knowing that a huge missing puzzle piece has finally been found. But to be honest it is going to take a while to get over my anger. I think in time I will get over it, but right now it is pretty difficult.

 

I sat at Mom’s dinner table and talked about the news with her. She was the one that had mentioned to me several months back my Aunt has the MTHFR gene mutation. This perked my ears up because I remember hearing that acronym as part of the fertility tests I thought I took early on. I explained to Mom, “Had you not told me that, I would not have double checked that I actually got tested for it.” Mom got kind of teary eyed and said something to the effect of, “I didn’t even realize that was something related to fertility.” In other words, Mom had no clue the wheels she had set in motion for me. But I’m glad that she did. I’m also glad that my Aunt spoke up about her medical issues that were caused by the MTHFR gene mutation. Those conversations led me to my diagnosis that could help with my fertility, and ultimately help me to have much greater odds of having a baby.

 

I am brand new to this diagnosis so I have much to learn about it. I’ll probably do informational posts on it in the future. One thing I mentioned to my Mom is that I learned the MTHFR gene mutation has been correlated to some cases of cancer. So my diagnosis has sparked her curiosity into whether she may have the MTHFR gene mutation as well. She has beat cancer twice already and is the strongest woman I know. She said she would look into testing. It’s kind of surreal to finally have a concrete answer as to why I have recurrent miscarriages, and even more so surreal there may be a simple solution of medicine to help me. My OBGYN referred me to a geneticist that I should be seeing soon. Maybe next year we will finally have our little one.

 

Thank you for reading. 

Catch up on past entries by clicking here for the archives page. 

ENTER TO WIN THE LATEST HOPINGFORBABY.COM CONTEST.

 

Image Credit: Photo by Pixabay from Pexels

Advertisements

A Doctor’s Mistake & Possible MTHFR Gene Mutation

A Doctor’s Mistake & Possible MTHFR Gene Mutation

So I’m waiting, and waiting, and waiting still for my MTHFR gene mutation test results. Technically, I’ve been waiting about 2.5 years and just didn’t realize it. “How is that possible,” you may ask. Let me take you back to the beginning. Doctors typically look at the more common explanations for recurrent pregnancy loss with the basics; thyroid, progesterone, Rh factor, Factor V Leiden, and MTHFR to name a few. These basic tests help determine the correct treatment, and ideally prevent unnecessary heartache from miscarriage after miscarriage. If all of these tests are negative then further more in-depth testing can be done.

 

I vividly remember sitting in my first RE’s (Reproductive Endocrinologist) office years ago and hearing her explain my results to me. One by one she read my results while reading a paper from my file on her lap, “Thyroid is good. Progesterone is fine. Rh factor is positive, so that’s not an issue at all. No Factor Five and no MTHFR.” No MTHFR. No MTHFR. That’s what sticks out in my mind all these years later. I can still see her smiling at me optimistically, which I’m sure she wouldn’t be doing the same thing now had she seen everything I’ve been through over these years. But she retired shortly after I began my treatment with her. She was a nice lady, but in hindsight she seemed a little flaky and unfocused. But back then I attributed her forgetfulness of the details of my medical history to what I’m assuming was a high number of patients she was juggling. 

 

Flash forward 2.5 years later to now. That first RE retired, my second RE retired this year, and my info was passed along to an OBGYN office in the same building. I called my insurance company and learned there isn’t a single RE left in the state that is in-network any longer. So I’m shit out of luck as far as getting a specialist who is properly trained in cases such as myself. What does this leave me with? In the new clinic I did what most of us do, ask a lot of questions in hopes they will be able to give us breadcrumbs to the solution. It felt like pulling teeth with this one though. She seemed mildly irritated with each question I asked. What she didn’t realize is that she was sitting in an interview for a position that can mean life or death. Not to be melodramatic, but that’s truly the reality of what I’m dealing with, the life of my future child. 

 

I had high hopes for this young representative of this OBGYN office who my newly retired Reproductive Endocrinologist highly recommended. But my final question I posed to this fresh-faced doctor was what truly sealed her fate. It was basically a set up, I’ll admit, but I had to ask it to truly learn what I was working with. I asked her, “What do you recommend I do to improve my egg quality?” Mind you, I have recently done a massive amount of research on this subject this last year, from reputable medical journals and some of the most well-renowned books published on the subject, including the book “It Starts with the Egg.” I’ve already put into practice some of the medical advice on the subject. 

 

“Well” she starts, “We are born with a certain number of eggs. We can’t change that. And sometimes miscarriages just happen. There’s nothing you can do about it.” I could tell she says this quite often. Her face was completely blank and her eyes seemed distant like she was trying to figure out what she wanted to order for lunch. Her words may have been consoling to someone who might be experiencing their first miscarriage, in fact I know I’ve heard this before from another doctor I stopped seeing years ago. When I get a gut feeling that a doctor isn’t doing everything they possibly can, I usually move on to the next one, as anyone should. 

 

So what exactly was it about her response that pissed me off. Well she didn’t answer the question I actually asked her, for one. I asked about egg quality, not egg quantity. I know there’s absolutely no way you can increase the number of eggs you have. But I do know that there are studies on how to improve egg quality on the eggs that you have remaining, which can increase the odds of a live-birth. The problem with her answer to me is that she was either one of two things, 1) Not paying attention to my question, or 2) Uneducated on the correct response. To her credit, she contributed one solid lead for me to follow, with a different doctor of course. That lead was that she had looked through my entire file of many documents and found no MTHFR results. 

 

Interesting, no MTHFR results. Could this just be an oversight on her part? I hoped this was the case. One of my Aunts recently told me she has the MTHFR gene mutation and she was telling other family members to get tested for it. Because of this, I decided I should double check that I truly am negative for the MTHFR gene mutation. If you haven’t already googled what the MTHFR gene mutation is, it’s essentially a mistake that occurs in how people process folate which can lead to a variety of complications, recurrent miscarriage being one of them. The doctor’s parting words were, “You don’t need to get tested for MTHFR. Just make sure you take a prenatal with folate.” Let me disect this response as well, firstly if I did have MTHFR, it’s recommended that you take methylated folate during pregnancy, which is often not found in your basic prenatal. And why the hell would I not want to get tested for MTHFR if I have a family history of it and I’ve had five miscarriages? Why would I not want to find that out? At that point I thanked her for her time and we both left the room quickly. I’m assuming for her it was because her stomach was rumbling and she needed lunch, and for me I left quickly because I knew I wasn’t going to waste another minute with someone who seemed disinterested in helping me. I later read in my infertility groups that many other women have the same experience of a doctor being dismissive of their request to test for MTHFR and that some patients really have to push doctors to get this test done.

 

I called back a few days later and asked the receptionist to patch me through to a nurse. “Can you see if I have been tested for MTHFR at all?” I wanted to know for absolute certain that I had not been tested for MTHFR, because I was questioning how thoroughly the doctor read through my file. The nurse on the phone scoured through my medical history, I know this because I could hear her turning the many pages of my file. Finally after about five minutes she said, “Well I see here you were tested for something similar to MTHFR, Factor Five. But nothing at all on MTHFR.” She even reviewed my genetic test called a Horizon panel, which tests for 274 different genetic carrier diseases that both my husband and I took years ago. The MTHFR test wasn’t in that one either. She asked if I wanted to come in to get tested for it and I agreed, but later decided not to show up, remembering the shitty experience I had with that doctor. I thanked the nurse for her time she put into carefully poring over my file. I decided to use this bread crumb of information to move ahead, but not with them.

 

Instead of feeling obligated to continue care with that provider just because my previous Reproductive Endocrinologist recommended them, I decided to call up my OBGYN I used for my past surgeries after I lost my pregnancies. He previously recommended I ask most of my questions to a specialist, a Reproductive Endocrinologist, because he didn’t have all the information I was asking about. But now that I have zero RE’s that are in-network, I decided to go back to his office to at least test me for MTHFR. So I stopped by, did a quick blood draw, and now I’m waiting for the results. I’ve been waiting about five days now and I called several times. They said it takes a bit longer to get that specific test back. 

 

If I have MTHFR I can get set up on a treatment plan. If I don’t, at least I can finally rule that out. I feel I have a right to be angry, I was told I was tested for it but I really wasn’t. My second RE even asked me, “Have you been tested for MTHFR?” as she was looking through all my documents. I told her I was tested and found to be negative, because I was going off what my first RE told me. My second RE stopped searching through my file after just a few pages and took my word for it, she should have looked more deeply into it. Admittedly, my file is quite intimidating. It’s about as thick as a 500-page novel. Maybe that’s why she decided to stop short. There were a series of oversights along the way, and that is what bothers me. 

 

I believe this is not just a personal issue either. I feel that if this can happen to me, it is also happening to some of you as well. What would I have done differently if I were to do it over again? I would have examined my own copy of my file yearly, looking for any gaps in testing. But in the beginning you trust your doctor, you trust the process, and you believe you are doing everything you can. But doctors make mistakes, sometimes major mistakes. Sometimes you can’t take their word on something and you need to see it in writing in your hands. I wish I would have asked to have a copy of the test results and actually see the words MTHFR Gene Mutation on the paper. But that paper doesn’t exist because neither did the test. 

 

Throughout this whole process I’m learning to do my own research and take initiative. Because if you just go with the flow of whatever the doctor says you may end up so far away from your solution. Speak up and ask for the testing you need. If your gut tells you, “They don’t know what they are doing” listen to that instinct and find someone who at the very least listens to you. Because if they truly listen and still cannot help you at least they can hopefully point you in the direction of where to go instead.

 

I will let you all know as soon as I get the results from my MTHFR test. For now, I’m considering seeing the highly recommended RE that is not in-network with my insurance. Perhaps she has some advice that can actually help me achieve my dream of having a baby. I told myself I would pay off my debt first before I go down and do the Frozen Embryo Transfer in Seattle. I still have a good chunk of debt left to pay that feels like it’s turning into a Whack-a-Mole game, pay off one bill only to have another equal or more expensive one appear in my mail. I’ll get there eventually. 

 

I’m still exhausting every single possibility of trying to have a biological child. So for all of my family and friends saying, “Why don’t you just adopt?” or “Why don’t you just foster?” I humbly say to you, in time I will, but I don’t want to split my energy in different directions right now. I want to focus on one thing at a time. Some acquaintances I meet ask why I don’t have kids yet. I don’t feel obligated to give them my medical history so instead I give them the canned response of “We’re trying.” The more brazen acquaintances then jokingly say, “You don’t have much time left. You better get on that.” It’s at this point I imagine myself as Mike Tyson punching the shit out of them repeatedly in their smug face, and maybe biting a piece of their ear off for good measure. I’m joking, sort of. But unfortunately they have a point. I’m 33 and I don’t have much time left, which is compounded even more so by the fact that I have Low Ovarian Reserve. So right now this is my focus and I’m doing everything I can.

 

Thank you for reading. 

Catch up on past entries by clicking here for the archives page. 

ENTER TO WIN THE LATEST HOPINGFORBABY.COM CONTEST.

 

Image Credit: Created by kjpargeter on http://www.freepik.com

 

 

Choosing Happiness Despite Circumstances

Choosing Happiness Despite Circumstances

In one of my infertility groups I read a post from a woman who struggled with multiple miscarriages and failed IVF rounds. She sounded exactly like how I feel, occasionally sad and confused about what will happen next. She asked a very profound question: “How do I get my happiness back?” So many women in the group seem to relate happiness with the end result of a baby. But she asked this question relating it to what she herself can actually do, regardless of whether she continues or discontinues her fertility treatment. A new daily goal of mine is to continually work on creating happiness for myself and from within myself. You are setting yourself up for disappointment if you rely on external events to bring you happiness. In other words, it is still possible to be happy and content even if you cannot create a family right now.

 

I wrote the following response to the woman’s post about her question of how to find happiness through all of this: 

 

Sometimes taking a break from planning fertility things, even if it’s just for a month or two can bring much needed peace. I’ve experienced a lot of loss and disappointment as well: 5 miscarriages and 1 failed IVF round. So many of us are right there, feeling exactly like you are. I feel the same way too. Your honesty with your post helped me to feel less alone. Take the time to take care of yourself and do the things you enjoy, whether it’s going for a walk, listening to music, journaling, talking with friends, etc. I need to do the same as well. Even in our uncertain times we can make choices to build ourselves up, even if we have to drag ourselves out of bed to enjoy the world outside. For me, doing the opposite of how I feel sometimes helps. If I want to binge watch TV or oversleep beyond what is normal, I try to force myself to go for a drive or be out in nature. The other day I was depressed and only wanted to zone out in front of the TV but I instead went out for a hike. I saw for the first time in my life a mountain sheep very close. Had I not forced myself to get outside I would have missed out on that amazing experience. For me that was a taste of what I could be missing out on if I continue to sit inside and be depressed. I hope you can push yourself too to find what helps you heal.”

 

img_20190802_170647

A rare find, mountain sheep watches us as we hike.

 

Thank you for reading. 

Catch up on past entries by clicking here for the archives page. 

ENTER TO WIN THE LATEST HOPINGFORBABY.COM CONTEST.

Book Review “It Starts with the Egg” by Rebecca Fett

Book Review “It Starts with the Egg” by Rebecca Fett

This post may contain affiliate links. You can see my full disclosure here.

 

HopingForBaby.com Rating: 5 out of 5

 

Rebecca Fett, writer of “It Starts with the Egg” knows her stuff for sure. Fett is a microbiologist who understands how the body functions on a cellular level. When faced with her own infertility issues she used her education and research skills to have a successful birth, and shared her extraordinary amount of information for other women to use in her book. She has held the top selling rank on Amazon.com in the Reproductive Medicine category. I’m a member of multiple infertility groups on Facebook, and I continually heard about this book over and over again. The women were very enthusiastic about the book and it was always highly recommended. Many women who spoke endless praises of “It Starts with the Egg” were saying that they were able to finally make their dream of having a baby a reality.

 

I will not go into detail on all of the topics covered because all of the information and credit goes to Rebecca Fett. Whether you get it from the library, book store, e-book or audio format (I personally love Audible), you have got to read this book. The book is organized into categories for the particular type of infertility issue that one might be facing. For example, I have low ovarian reserve and I’m doing IVF, so I choose to follow the Advanced Plan in her book. There is also a plan for those with PCOS. Some women have been facing infertility for unexplained reasons for a while but they don’t want to do IVF, there is a plan for that as well. Let me also add that you MUST speak with your doctor about your treatment plan and don’t solely rely on the book, because you may have a medical condition that is affecting your infertility that could easily be tested for. In other words, you may think you have “unexplained infertility” but perhaps a simple blood test will explain what is really going on.

 

I was honestly in a very low place before I started to read this book. But this book has given me a lot of hope because it gives great tangible advice that someone can start right away to improve their odds of success. For example, there is a plethora of information on supplements Fett shares, rooted in case studies that show positive correlations for success. 

 

I highly recommend you get a copy of her bookOne major change I did right away was to get rid of my plastic dishware and replace it with either glass or stainless steel items. This was the first thing I did and I felt a sense of accomplishment knowing I was taking the first step in reducing my use of products that can have  endocrine disruptors, which can impact fertility. From there, I also changed my make-up and beauty products that had high levels of dangerous chemicals. I recommend using the “Think Dirty” app that allows you can scan the barcode on beauty and cleaning products and shows you if it is dangerous or not. I’ll be doing a more in-depth post in the future on that subject. I’ve been eating healthier and following the food suggestions outlined in this book as well.

 

So all the talk is true is true ladies! Rebecca Fett has gathered so much information and created an excellent resource for those of use struggling with infertility. This book has actually inspired me to research even more health-related topics. I guess you can say I’ve become quite the health nut this past month. Another added benefit of following her advice is that you are lowering your risk for major health related issues if you follow the dietary suggestions. Reading her book has empowered me to make real changes and was it was the catalyst for me to begin living a healthier lifestyle. You’ve got to read this book!

 

Purchase your copy now of “It Starts with the Egg” by Rebecca Fett by clicking here.

 

Thank you for reading. 

Catch up on past entries by clicking here for the archives page. 

ENTER TO WIN THE LATEST HOPINGFORBABY.COM CONTEST.

 

 

Day 11 (Round 2 of IVF Stims): How to Get Travel Discounts for IVF Treatment

Day 11 (Round 2 of IVF Stims): How to Get Travel Discounts for IVF Treatment

(Entry written prior to posted date).

 

The irony of IVF medication is that it makes you look totally pregnant. It has all the same appearances of pregnancy but instead you become a human water balloon. I bloated so much in such a short span of time that it was painful sometimes. I’m already a big girl so imagine the discomfort I felt when there is extra water added to my belly, thighs, and even my face. My glasses were even fitting tighter on my head. No one seems to talk about how your face gets bloated too. When I looked at my pictures from the other day I thought the photo was distorted. My cheeks were noticeably bigger. I appear to be taking on the physical traits of a whale. I think whales have a majestic, serene quality to them, as they glide through the ocean waters and call out to each other. Instead here I am angrily flopping around in bed as I cuss at how uncomfortably big my stomach has become.  I sometimes grab my stomach in dismay and say “Oh my God” under my breath.

 

IMG_20181114_074626

The Bloat is Real. Way more bloated this second round of IVF.

 

I knew I was going to be bloated, like everyone in the online IVF boards were saying, but good lord this is too much. It was pretty shocking to look in the mirror and see my gut looking fully pregnant. One thing I didn’t even think to do was to measure before and after IVF meds, the difference would probably be quite mortifying.

 

 

IMG_20181114_074906

Even my face is bloated. I felt my glasses frames getting tighter by my ears. What…the…hell?

 

 

The IVF process tends to mold us into more resilient people. Look at the lengths we go to to create a family. Although I did whine throughout the process at times, I am also learning a lot about myself too. Some of the ways I’ve grown through this process include learning to find humor in hard times, being open to new experiences, prioritizing what is really important to me, and time-managing the s**t out of my day. When you have to give yourself five shots during a specific window of time each day you start to get into a perfectly sequenced routine.

 

My best advice to those of you who have to give yourself multiple shots in a day is to be prepared, and do your shots in a certain order at the same time. I always did mine in the same order each time so I would try to avoid mistakes, minus my one major mistake with the Omnitrope. Hey, nobody is perfect, but if you can find a way that helps you streamline the whole process it will be so much easier on you. I also kept all my medicine in my one suitcase, although some might find it more helpful to have everything spread out on their counter. I was traveling at the time and I didn’t feel comfortable having all of my expensive medicine spread out in my hotel. I always zipped up all my medicine in my bag if it didn’t need refrigerated. Also if you are given a window of time to take your medicine try to make a habit of doing it in the earliest part of that window. It’s better to be earlier in the window than try to make a mad dash back to your place to frantically give yourself multiple shots. You are more likely to make mistakes if you do not give yourself enough time to prepare.

 

I wanted to share a couple other things I’ve learned along the way, one of which I learned just today. Because this cycle is lasting much longer than anticipated I needed to extend my stay at the hotel. The girl at the front desk of the hotel knew that I had received several deliveries from a pharmacy because I had very specific instructions to call me immediately when they arrived because I needed to refrigerate the medicine. So when I went to pay for another week at the hotel, she offered me some advice I hadn’t even thought of.

 

She said to me, “You are here for medical reasons, correct?”

“Yes” I said. I had mentioned before I was having a procedure but didn’t go into details.

“That’s too bad that we didn’t know that for your first week you had booked. But we can apply the medical discount for you for this new week.”

“Really?” I said surprised. “How much is the medical discount?”

“Twenty percent, if you book through us directly.”

 

If you have to travel to do IVF ask if it’s possible to get a medical discount on your hotel and airfare. Just because you think you are getting a good deal on your hotel and airfare by booking through a website like Kayak, Priceline, or Travelocity does not mean you are getting the best deal possible. Call your hotel and airline directly and ask them if they do medical discounts and what the percentage discount is as well as the policies. Do the math. If the percentage you’d save is more doing a medical discount then go for it, if not then book with the cheaper option online. I managed to get both the hotel and airfare medical discount. I wish I had known about it before with my first round of IVF, but I’m thankful I learned about it by the time I had my second round.

 

Thank you for reading.

Check out my other blog entries by clicking here for the archives page.

Don’t forget to check out my Contests page to see how you can win!
Featured Image Credit: Photo by Oleksandr Pidvalnyi from Pexels

 

Support Our Blog

Thank you for supporting us and for reading our blog.

$1.00

%d bloggers like this: