Finding out I have a MTHFR gene mutation

I feel I have owed everyone this post for a little while now and I’ve just been getting around to writing it. By “owe” I don’t mean that in a negative way but in a totally positive way. I owe it to those who care, who have reached out, who have felt an impact from hearing our story and who simply want to be informed. I can’t stress enough the value I would have taken from something like this had I come across it before I decided to start planning for a family. 

Of course no one thinks this type of thing would happen to them, but (especially me) you’re always a bit nervous and curious as you go through the journey of life and for those who are like me, they agree, knowledge is power. I remember last year, back in December, I vaguely had the intuition to “get a physical” and to “get checked out” before we started but I had no idea to what extent I SHOULD have went because I had no idea. And unfortunately I didn’t meet anyone in my path to tell me otherwise. No doctor or friend said to me, “Oh you should check out to see if you and your spouse are carriers for any genetic mutations” or even during my pregnancy no one said, “Congratulations Katelyn, you’ve made it to the 12 week mark and your % chance of a miscarriage drops but not your chance of stillbirth.” Nobody gave me this knowledge. No one uttered the words “stillbirth” to me - not once. 

All you hear about (what society talks and tells you about) when you think pregnancy is: 

  • “you might not be able to get pregnant right away”

  • “say goodbye to your old body”

  • “you’ll never sleep again”

  • “morning sickness is terrible”

  • “don’t announce too soon, keep things a secret because you might have a miscarriage”

Well that’s not even the tip of the iceberg. And, more importantly, why do I have to know this in hindsight? Why can’t the topics I’ve learned about from first hand (terrible, heartbreaking, soul crushing, life changing) experience be spoken about and brought to the forefront in this day and age. The fact that the statistic for a stillborn (1 in 160) hasn’t changed in 55 years is mind-blowing. What does that tell us? Not that “these things just happen”, it tells us that it’s a clear issue and even with modern medicine it’s not getting better and why, because as a population we sweep it under the rug. It makes people nervous and sad and confused. I’m not sure I could have done much differently (sure I could have gotten a lot more testing done prior) but the one thing I wouldn’t have done was think anything was a sure thing after a certain period of time, like I so innocently was conditioned to believe. Because I didn’t know better. Because Instagram says so. Because people have babies all the time. Because you see everyone’s highlight reel.

You get to this point “after the fact” and you still feel weird and paralyzed spreading your knowledge. I see pregnancy announcement after pregnancy announcement and what am I supposed to do? Message the person and say “Hey I want you to have a healthy baby. Make sure you get these tests done so your baby (or you) doesn’t die.” Umm … no haha. Which is exactly WHY this conversation never happens. This is WHY the cycle continues. Everyone is afraid of scaring everyone else. Well you know what: you SHOULD BE SCARED. You should be really fucking scared that something bad can happen cause you know what, it can. And it’s the worst pain imaginable. 

I’m not writing this to be negative, or a downer, but to open up the conversation on saving a life. To open our eyes that we are on our own when we chose to embark on this journey to create another life. Sure there are doctors, some good doctors, and some bad doctors and doulas and midwives and nurses and you know what … they are all people. Just like me and you. They don’t live in your body, they don’t know you like you know yourself and more importantly they certainly don’t know everything. If you want something you’re going to have to work at it. And if you don’t have to, wow you’re one of the lucky ones and you should be that much more grateful that you’ve been dealt that card and you should make sure you count your blessings every single day.

I have a MTHFR gene mutation. Homozygous C667T to be exact. Genes are responsible for telling the body instructions on how to do things! It’s super hard to explain, but for my condition I basically can’t process/convert folate into it’s usable form correctly and that is critical in the process of methylation and enzyme production. It helps our bodies function on many levels including growth and development and LOTS of other things, even detoxification and removing homocysteine (which is toxic) from our bodies. 

Interestingly enough, about 30-50% of all people might carry this mutation in the MTHFR gene (which is inherited and passed down from parent to child), however far fewer have a more severe mutation (like me) that impacts overall health more drastically. 

To date, MTHFR mutations have been tied to dozens of healthy conditions but the problem is, this research is still “up for debate” as to if it’s a direct cause for these things. I’m not a scientist or a doctor but at the rate I’m learning about this specific research the more I’m convinced that my polymorphism is associated with my pregnancy loss.

Because a MTHFR gene mutation can change (or rather inhibit) the way some people metabolize and convert important nutrients from their diets into active vitamins, minerals and proteins. Folate, for example, is essential in the process of methylation - especially before and during pregnancy. Us mutants will have a hard time converting SYNTHETIC B9 (folic acid) into it’s useable form and actually experience worsened symptoms. Because that will cause a build up in our bodies, creating a toxic environment we are less likely to be able to detoxify because oh yea, by having a reduced methylation contributes to poor elimination of heavy metals and toxins. My liver operates at 25% (as compared to a normal liver operating at 100%). I’m not going to pretend to be an expert, or bore those reading this with the details, but if you are interested I’ve been devoting the past couple of weeks learning about my new mutation. 

Here is an article explaining the mutation overall (but remember I’m homozygous). And here is a good article how it relates to pregnancy. This blog post is great, this girl has the same exact mutation as me.

I also tested positive for an autoimmune disorder and although they can identify the pattern (which is in line with three types of diseases) we aren’t sure which one exactly until I get more testing. I’ll be going to a Rheumatologist for this so if you are interested, stay tuned!

There are a host of other steps and important lifestyle changes I’ll have to make in my day to day life going forward (no more gluten, so sad) but the point of this post is not to educate you on the gene mutation but rather on the advocacy of yourself and reality that things aren’t always sunshine and rainbows (well hopefully rainbows for me one day). My hope for you is that things do go smoothly for you, and if I can help one person by educating them that this stuff could be a reality for them or that this does exist (among a million other things) than it makes this all a little less hard to swallow. Trust yourself, go with your gut and remember that everyone is just a person but not everyone cares as much about your life as you do.

Dylan - Part Three

*Contains a lot of oversharing and graphic descriptions which may not be for everyone. Please read at your own risk*

Bleeding non-stop after Dr. S dilated me (normal) … I really just was not into the “chucks” aka the hospital pads. They were so insanely uncomfortable. They were sweaty, stuck to me and just made everything that much more miserable.  I asked the nurse if I could please just use the towels. They were all awesome. They told me if that was the ONLY thing I was complaining about during this entire thing I could SURELY be accommodated. Sweet sweet ladies. I really had the BEST care and support, it was amazing.

It was time to get set up for the epidural. It was around 5pm on Tuesday when we were all set to get this figured out. This experience was one of the worst of my life. Because I wasn’t in level 11 labor pains. I was totally fine - BUT I would be in a lot when they were going to insert the balloon so I knew I had to do this. My epidural experience was of course my own but after everyone, and I quote, saying it was “the best thing ever” I knew it couldn’t be that bad - even maybe a good time. No. No no no. Again, perhaps in a different circumstance - if I was in excruciating pain and about to give birth to my child that was going to live a long life, be alive and crying then yes I think it wouldn’t even be a blip on my radar but because those things weren’t in play, because it was in/on my lower back, because I was in zero pain at the time and because just the entire thought of it skeeves me out - it was fucking terrible. I’m not going to go into crazy detail (ok there was a sterile field set up, I had to squeeze the nurses hand, I was literally terrified and tears were quietly streaming down my face) but I made it out alive and it appeared *somewhat* successful. I personally felt it was a bit un-symmetrical but listen, I’ll take any good fortune I can get at this point. I’m just glad everything seemed “normal”. 

Well let me tell you. If you’ve ever wondered what it might feel like to be paralyzed you should inquire about trying out an epidural. I’m not sure if I was giving an insanely strong dosage (as I learned later it was totally NOT necessary the amount I had initially been set up with) but I could not move a single thing from the waist down. One half of my lower half (my left leg) felt like 200 degrees to the touch, was tingling, and I was literally UNABLE to lift it AT ALL. I couldn’t even take my hands and lift it up. I had to have Devin and my mother periodically move my leg up and down and both of them had to shift and move me around in the bed every once in a while because I was so incapacitated. My right leg wasn’t blow up, normal temp, still completely numb and unable to move but a totally different temperature than my left. Listen I’m not a complainer but this was next level. I had a catheter in me to urinate, a balloon in my cervix, a deceased baby in my uterus, an IV in my arm, a blood pressure cuff on my right, a belt to measure my contractions that were going on, a pitocin IV pumping in, and all the while casually bleeding all over the hospital bed I was laying in. It was really hard to imagine a worse scenario. But there I was.

A few hours later into the night my bag started beeping (air in the line) so I had a nurse get the anesthesiologist. I explained to him the craziness that was going on (numb, one leg is hot, is this normal?) … it was a different guy on call so he decided he’d take it WAY back for me and put more in my button. I thought that sounded great because I couldn’t even IMAGINE anyone in their right mind needing to press the button for more pain medication - you’d literally get sent to the moon. You’d be so far gone it would seem. I couldn’t even comprehend the pain that you’d need to be in to need that much medication. Anyways a few hours later after it settled down and ironed itself out - I could MOVE my knees, I could adjust myself on my bloody towels, scratch an itch if I needed, and simply just get some blood flow back into my lower half. I still couldn’t feel any pain mind you, but at this point who knows what my pain tolerance is. Starting to think I have a high one.

Early Wednesday morning Dr. S came in and told me her shift was ending (although she promised me she’d deliver Dylan) and she’d have to pass the baton over to Dr. A … BUT thank goodness Dr. A was my doctor. The doctor I was seeing during my entire pregnancy and also since I was 16 years old. Praise be. Someone I knew (that knew me) would deliver my stillborn son, that was really all I could ask for at this point.

They checked me … I was doing good.  The doctor and nurse kept telling me if I feel A LOT of pressure, to let them know. The hospital started to get really busy!! Must be the place on a Wednesday. Not quite sure of what to expect … and getting used to my new normal, I settled in. Didn’t really wanna bother anyone since I was here for the long haul. I also felt like I’d KNOW when something warranted someone to come see me. I started to feel kinda uncomfortable (but I mean … I still had my “button”) and even though I could totally have handled the pain / pressure I felt I was in enough pain and suffering in this horrible situation why even feel anything at all. So around 10am I pressed the button. No more pressure. After all, to me it wasn’t a LOT anyway. I mean … I guess my “a lot” vs. someone else’s “ a lot” is a lot different. Haha.

I told myself I’d call them in 1 hour since I was due for my medicine anyway. 11am came. Pressure again but this time I didn’t want to press the button. I wanted to feel it and I wanted to tell them I felt pressure but I was very unsure if it was this “a lot” they spoke of. So I called them in. Dr. A  checked me and I was at 6cm (and although Dr. S said that’s pretty much all I would need to be … we still weren’t sure). I she think she wanted to play it safe since not much was happening quite yet. She went to go get my next dose of Cytotec for me. My nurse was checking my IV and other vitals and I felt a super small gush (didn’t quite feel like blood though) and I turned to her and said, “I THINK something is happening …” so she sensed I had a good intuition and went to go get Dr. A. My mom and Devin were still in the room and that’s when I felt Dylan’s legs popped out. All on their own! That’s when I exclaimed, super nervously cause I still wasn’t 99% sure (I mean who is when you’ve never birthed before), “Ok, something IS happening. Definitely happening.” My mom bolted out the door to go get the nurse + the doctor. HA! Devin and I were alone. Then either Dylans shoulders or head came next and I was pretty scared at this point. I turned to my husband and half jokingly said, “Well, you might have to actually deliver this baby.” Since he was apparently waiting for nobody. 

The nurses and doctors and everyone piled into the room at that point and started setting up. Dr. A checked and confirmed he was here - and she could handle the rest. She asked me for a small push and WOOSH - I created a blood and fluid water park in the hospital room. I literally sprayed everything and everyone up to their shoulders. I had NO CLUE what was going on and my immediate response was, “OMG I’m so SORRY!”. No one seemed to phased at this point and I was told it was all part of the job. Janet handed me Dylan really quick and I said hi to my son for the first time - then she took him back to clean and measure him. One final push to birth the placenta and that was it.

I flood of relief hit me. That these past few days of hell were finally over. That we reached the top of this mountain and were about to start our decent. That it wasn’t as scary as I imagined. That he was here and I just gave birth to him. He was perfect, he was ours. That’s when the chills started. All normal I was told. They cleaned me up, unhooked me from everything, monitored me, gave me some things to help with healing and then I got to hold my son. The doctor checked Dylan for any visual abnormalities as well as my cord and placenta and she reported back that he looked fine and there were no visual abnormalities that she could see. So far still unexplained. We confirmed we would be doing the genetic testing and autopsy (all signed and taken care of beforehand as a formality) so other than that we still have no reason why our baby died. And we might never know.

After Devin and I had some time, our family was invited in to see him and hold him, take pictures, look at his perfect little hands and feet. How he looked exactly like his daddy and mommy. His button nose and tiny ears (that were exactly like mine), to his little lips. Lots of tears but also a weird sense of happiness. After all … he was so very cute and so very much there in our arms - just still sleeping. 

Dylan - Part Two

Upon arriving in Good Samaritan, Devin and I parked, walked into the hospital  and rode the elevator up to the 6th floor in silence. We checked in and Devin was told to wait in the waiting room until I got checked in. I was taken to my room and told to undress, put on a robe, slippers, and was given a bag for my clothes. I got settled in and waited for the nurse. A young girl walked in and was immediately warming to me. She asked me a TON of questions and in true Katelyn fashion, I got to know her and we also connected. I told more info than needed to help her gain a better picture of my pregnancy, and life in general. Her name was Meghan and we went on to become good friends. She was able to cater my care specifically to me and I couldn’t have asked for a better person by my side to admit me and be there during my first 5 hours. She was truly sent to me. 

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Not a bad view, huh? Good Samaritan hospital is located in West Islip, New York (fun fact was: I was born there too) and the view of Robert Moses Bridge is incredible. Right by the water. Very fitting for us.

Once I was checked in, Devin was allowed in the room with me and it all began. I met with the doctor on call and the resident to go over our plan of action. Nothing invasive was to be done since we essentially had all the time in the world and could not harm baby in any way. The doctor informed me it could be a long while before he got here. On Monday she gave me a heads up that probably as long as tomorrow afternoon. I’m so glad she did … she was only 24 hours off. The asked to do a sono to see baby’s position, which of course I agreed. Dylan was breech. Not such good luck for us. Breech means heads up so as my cervix would start to soften we would be at a disadvantage since his head and gravity would not be working in Mommy’s favor. Of course. They started me on Cytotec to induce contractions. Normally inserted vaginally they made me take my early doses by mouth. I had to let them dissolve for 15 minutes either in my cheek or under my tongue. (note: After going through the birth I’d rather have heavy contractions than have to take that stuff in my mouth again - it was so foul tasting and coupled with the uncomfortable texture was beyond terrible. I just wasn’t a fan.)

As night fell the nurses changed and we started to get a sense of “hospital life”. 7PM - 7AM was their shifts so if baby didn’t come that would mean I would have a new nurse to get used to and to know. It was important for us to know these people since this was such a monumental and heartbreaking moment in our lives. Literally every single nurse was amazing in her own way and so insanely kind. My nurse woke me up (but I wasn’t sleeping mind you) every 2 hours that night to administer my Cytotec and make sure I let it dissolve.

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By early morning I was beyond starving. I had only eaten a small peach on my way to the doctors office on Monday and after the news, although instructed to eat, I had a few bites of an apple but was mainly to nauseated at the news of losing my little boy to think of food. My nurse asked and got permission for me to have a little food. She brought me a yogurt that she found and I was so grateful to have something other than Cytotec and water it didn’t matter what it was. The night before was rough. I was experiencing contractions for the first time but they were a slow roll. They kept asking me if I wanted pain medicine but I like to be in tune with my body and know what’s going on. That morning I asked for some Tylenol because I really just wanted to be able to relax and sleep since that wasn’t an option with a pain level of 2-3. 

Tuesday morning was a blur until I met Dr. S. My savior. A women that throws passion and understanding into everything she does as well as being insanely smart and talented. Someone sent her to me. We devised a plan of action for later in that day if no progress was made to insert a ballon into my cervix to simulate his head … cranking it every half hour to increase the pressure and help me dilate. She self dilated me after the Cytotec had softened me a little bit) to 1cm but encouraged me to get an epidural for the procedure, so later that afternoon we went for it. 

To be continued ...

Dylan - Part One

On July 16th as I sat in my office about to start my work week, I couldn’t take it anymore. The gut feeling that something was wrong so I called my doctors office and asked for an appointment. I said I couldn’t feel baby although I was probably crazy. They asked if I could come in right away at 10am.

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After waiting in the waiting room, then going into the room two nurses couldn’t really find a convincing heartbeat (it’s hard because sometimes you can hear your own that far down believe it or not). I knew we weren’t finding his … you can tell by the speed and location. Nervously one of the nurses kinda just gave up and said let’s just do a sonogram to be safe and also just easier to find out what was going on.

I waited until the room opened up, went in, got the gel put on me and after one or two swipes the tech nicely told me “Katelyn, can you just wait here for two seconds?” and left the room. That’s when I knew. Clearly that wasn’t any sort of good news. I knew my baby was no longer alive. Those two seconds were really a few minutes and they were literally the longest minutes of my life. My entire future … my entire forever that I had been imagining with my new family was shattering in my head. My reality was changing as the seconds went by and into complete darkness. I had vaguely heard of this situation happening in the world but I had no idea what to expect, think or do. Finally the doctor came in. A doctor I had never met yet (but was going to meet in a few weeks as I started to make my rounds because my office was a multi-doctor practice). Thankfully, the doctor was very kind as she explained, “We unfortunately couldn’t find a heartbeat so I am sorry to let you know but your baby has passed away.”

Having a few days heads up because of my mommy intuition I was able to calmly say “oh, ok.” …. no tears. Just using my only choice for an answer. There was nothing anyone could do or say to change or go back to what was before when he was perfectly healthy and beautiful growing and kicking inside me. She told me I had to go back into the room for her to exam me and fill me in on other details. First I had to call my husband and tell him the news. He left work immediately and started to head my way.

She checked my cervix and explained I had to deliver the baby. Clearly just still in shock or unable to wrap my head around what was going on I asked if they could just take him out surgically. But she advised that was not a good idea. To have a C-section electively would be major surgery and cut into layers of my uterus and be completely unnecessary for me. I trusted her (and am so blessed) that vaginal was best. I asked when … thinking I had to start planning for this and she told me actually today. I had to go to the hospital and deliver him today.

I hadn’t even registered at the hospital yet, taken a birth class, or even knew what to expect. But yet I was his mommy and he needed to come out right away. So I had a big job to do.

The doctor told me to go home and rest a bit, eat something, and then call Denise who would set me up with instructions as Good Samaritan Hospital. After calling my mom and dad and of course my friend Tanya (who knew I was in the waiting room an hour prior) … the news started to settle in for everyone. I on the other hand felt I had a few days heads up on this reality. I knew for days something was wrong but was very scared to realize I could very well be 100% right.

We all met in the parking lot, made car arrangements and headed home to prepare for the long journey to the hospital and the birth of our son...

Dylan's First Kicks

Although I felt him weeks before this (kicking me internally, hiccuping, and just moving about), my little boy wanted to show his Daddy and I his tricks. After some  of our favorite Thai food the night before this recording is when I saw my tummy move around. The next day, in the middle of the afternoon I was able to record his little dance. *the best kick is within the first second of this video

We're Pregnant!

Wanting so badly to be a mom (but also not really wanting a Christmas baby, since my husband's birthday is December 26th) we decided to do a test run. If we didn't get pregnant right away, no sweat, we'd just try again in a couple of months. Well kids, if you don't practice safe sex, you could very well end up pregnant. Seemed like we were the classic case of what they always taught us in school. :D

On the morning of February 20th (the day my period was supposed to start) I woke up super early, pretty anxious to see. No doubt when you get the test that has the words. There they were. YES + ... I left the stick right at the edge of the sink so when Devin woke up 30 minutes later to pee, I told him to "turn on the light". "You're pregnant!?" were his exact words. 

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