Colton James Brooks

As many of you have seen on Facebook or Instagram, my husband and I were lucky enough to get the genetics back on our 3rd little one.

Baby Brooks #3 was Male with a condition called Triploid Syndrome. Triploid syndrome is extremely rare and happens in only about 1-2% of pregnancies. I am extremely thankful that this is a condition that is not hereditary or in any part because of me or my husbands genetic make up. If you happened to google it, or clicked on the link and find anything out, you would see that the majority of the time the circumstance is 2 sperm (nice work babe on the super swimmers) joined with one egg. Every human typically takes 23 genes that come from Mom and 23 that come from Dad. Resulting in 46 total. In triploidy the baby takes on 69! That's 3 whole sets of chromosomes! 

Triploidy causes a huge giant laundry list of complications such as cardiovascular, gastrointestinal, and neurological issues. Just to name a few. More times than not the baby doesn't just house one issue, it's typically multiple issues. All incompatible with life.

In one article I read it was said that it's a 1/15000 chance that a woman reaches past the 15th week of pregnancy with a baby that has triploidy, and most often the egg never implants or the woman miscarries before even realizing she is pregnant. There has been only one documented case of an infant making it to 10.5 months of age.

Yesterday happened to be a rather emotional day. I thought that I would feel 1000 times better once I knew the gender and what had happened. Instead, I hung up the phone and burst into tears. Full of gratitude and sorrow all over again.

A little boy!

It was very surreal. However, as I consulted with Dr Google, once again, I found article after article about this syndrome, I felt empowered with knowledge. Later that night as I crawled into bed talking about the results with C, we had both felt so much peace about the timing of our miscarriage. I wouldn't ever wish to have another, or wish it upon anyone else, but I was so thankful that our baby didn't have to live in pain, or with disease. Sounds a little morbid, but is there even a better way to reach heaven? Straight from the comfort, warmth and security of my body to Jesus' arms?

After much consideration C and I decided to name this little one. I am privileged to say that I have a son in heaven.

My boy, Colton James Brooks.

We hadn't ever felt the need for healing or closure after the other two, but this one... It's different. So in loving memory of all our little ones we made a box to place all our keep sakes (ultrasound pictures, tests, letters, notes from friends and family, etc..).

 

 

 

Sounds crazy but I am so in love with my little ones, and so in love with our boy. I actually feel proud and a sense of being a mommy to a boy. I wonder if this compares at all to what it's like to be proud of your living children? If it is, I like it. I took that little box with my from room to room last night. And it will probably travel around the home for a while until we decide on a special place for it.

 

On another note, in my previous post (MTHFR) I mentioned about some results I received. There was some questions I had about this specific mutation and when my Doctor called yesterday I was about to have a nice long chat with her again. Changes have asterisk next to them.

 

Karyotype - Normal ( I am happy to know that I am genetically sound, *Hubby no longer needs to have his done, unless we have another miscarriage.)
All Autoimmunity disorders - Normal
Lupus - Negative
Thyroid - *Low indicating possible hyperthyroidism, getting second opinion
Prothrombin - Normal
Antithrombim - Normal
Antibody tests - *Normal / Some Not Tested yet

 

Vit D - Normal
Factor V - Normal

Factor II - Normal

Some type of active diabetes tests - Normal
Blood clotting disorders - Normal

Homocyseine - *Not tested

Protein S - *Not Tested yet

Protein C - *Not Tested yet
Prolactin - *Not yet tested

 

MTHFR - **Compound Heterozygous MTHFR (click the title for more information on this specific type) - She also mentioned that I was also a double carrier. which I don't know if that means something else as well as..or if it's one in the same? So many questions!

 

 

So, really I still have a lot of questions but honestly most of them have been answered. I am getting a second opinion on everything just to have a second set of eyes. However, because the genetics on baby we now know for certain that this loss was NOT because of the MTHFR. This doesn't mean that our other natural miscarriage wasn't due to MTHFR though. And this does give us more information in case I need to be treated in the future. This might depend on the tests that have not yet been tested. Which brings me to the next point, because we received news on the genetics of Colton, she no longer thinks it's necessary to complete my RPL panel. Which I understand her reasoning, however, I would like them completed for my sake and why stop when we're almost done, right?! Plus I think it will give us some valuable information. I am glad I am getting a second opinion, I know this will reassure me that all will be well next go around.

 

I was starting to get really frustrated with my Doctor and the answers, or lack there of, she was providing. I finally told her that I was an information person. I wasn't trying to be difficult and I certainly am not saying that she isn't worthy of being trusted. However, I feel like she just doesn't have much experience with my particular type of situation. Once I told her that I really appreciated her taking the time out of her day to call me and explain things and answer my questions because it was incredibly healing (emotionally) for me, her whole attitude changed. She was much more nice and understanding of my need for information. I don't need it because of my lack of faith, and I don't need it to prove God wrong, or prove Him right. I needed it so that I could process the way I process to gain emotional healing. She was much more inclined to discuss things with me once I made it clear that I am not set out to challenge her. Just learning to advocate for myself, that's all.

 

So all in all I think we have a good start on the medical side of things. I am sure as life moves forward we will have to have trials and errors on how to proceed, but for now, I am very satisfied with how things are turning out. I think  I am starting to accept that there is always the possibility of complications of any kind, but God is bigger and will make a way when it's time. Perhaps now I can and will blog about an array of other things now...

 

Blind Faith. Trust through the unknown.

 

 

 

 

 



MTHFR or Mother F'r?

Tests, Tests and more tests...

I must say getting the results of many of these tests was a major relief. I am slightly disappointed with the way it all played out and I was certainly annoyed by the time I finally demanded that the actual doctor call me to discuss the results. At that point I had her undivided attention and a 25 minute phone call. It was glorious. I am disappointed that the results of the genetics are not yet back on our little one, however she implied it should be soon. From her end of things it looked at though it was sent to another location for further testing. Which I guess could be good or bad. Good as in they are being thorough, bad because something could have been terribly genetically wrong. Either way, I will be happy with no news, or any news. All I really hope for is the gender, and she seemed pretty confident that we will be able to know. So I took the list I made in a previous post and applied the apporpriate test results next to it. 

Karyotype - Normal ( I am happy to know that I am genetically sound, Hubby will have his done come the first of June.)
All Autoimmunity disorders - Normal
Lupus - Negative
Thyroid - Normal
Prothrombin - Normal
Antithrombim - Normal
Homocyseine - Normal 
Vit D - Normal
Factor V - Normal
Some type of active diabetes tests - Normal
Blood clotting disorders - Normal

Protein S - Not Tested yet

Protein C - Not Tested yet
Prolactin - Not yet tested

All Antibody tests - Some Normal / Some Not Tested yet

MTHFR - POSITIVE!!!!!

I have never been more relieved to know that there is something that is potentially causing our losses. So what is MTHFR you ask?  If you're asking my best friend A, she said it's a Mother F'r (MTHFR). But if you ask Dr Google you will find a never ceasing wealth of information. From my understanding here is what I have learned (and please feel free to correct me if I am wrong.... Seriously, still learning here!!)

MTHFR (click here too for more information..) is a gene mutation on the enzymes of your blood. What this means is that your body becomes incapable of converting folic acid into its biologically active form (I-Methylfolate). In addition, depending on what kind of mutation you have (apparently there are a few different types, of what kind I am unsure and I will hopefully answer why soon), it can cause elevated homocysteine which then can cause (TA DA) blood clotting! Again, there are plenty of resources out there that might better explain this issue. I will add that this is actually a very common mutation (1 in 4 have some form of mutation, and yes it is hereditary). Again depending on the mutation, your treatment and protocols may vary. You'd really never know you have this mutation unless you were hitting some road blocks such as infertility and repeat miscarriages. It can also  cause many other issues.

As many people know Folic Acid is vital in gestational development. It supports healthy brain development and without it, or without the proper amount your baby could develop many neural tube defects such as Spina Bifida, and malnutrition for the baby. It is vital that a woman who is planning to become pregnant or is pregnant has the best nutrition possible and receives the best supplements possible to support a healthy pregnancy. Although I eat healthy and take my prenatals and live a pretty healthy life style the underlying issue is that the baby(babies) was not able to absorb what he/she needed to continue growth. 

I could have fallen into a puddle of tears. Some have said that results don't matter and I agree, but I also believe the Lord has given my husband and I some medical resources to give me and our future pregnancies the best care possible. I am thrilled to know that something like this, that is actually quite common, is treatable. 

However, if you happened to meander your way over to any MTHFR resources you will also see that not only is it treatable with many different options, it's also quite a controversial diagnosis. Some progressive doctors are more than happy to add a few concoctions of medicines into the mix and some will simply disregard the diagnosis and deem it invalid because of the lack of research and not enough information to support the theory of it being linked to repeat loss. However, in most resources that I have read 99% of them list infertility and repeat pregnancy loss as legitimate symptoms and side affects of this mutation. My doctor happens to be one who chooses not to treat any form of the mutation, although she recommended again, to start baby aspirin now and continue through child bearing years. How that makes sense, baffles me. As baby aspirin happens to be one of the many drugs they can use to treat this Mother F'r (MTHFR).  

I happen to be on the fence about switching OB's and finding one who will really take an honest look at the type of mutation I have, and treat it accordingly as to avoid ANOTHER loss. I really love where I am at most of the time. I have also considered following up with my Primary doctor and see what her knowledge has to offer my. At this point I am actually willing to do whatever it takes to keep a baby until 40 weeks gestation. If that means I take a different form of folic acid, switch up my prenatals, and take a baby aspirin everyday, I'll do it. But what if my mutation requires a little bit more of an aggressive treatment, such as heparin and levonox injections as well as the other options. There are so many different ways to tackle it. I guess as we go along and continue getting our tests back we'll just keep making the best decisions for us and what we feel God has for us. If that means I find a new Doctor, then I know He will provide. If that means I stay, I know He will provide. I may have to advocate for myself a little more, and push a little until I feel comfortable with the direction. But, I do know He will provide all our needs as they come. 

I am a little disappointed that she would agree to test for this mutation, then neglect to treat it. Especially with my history. So today, I decided to be proactive for myself. Yep, I bought baby aspirin, and you bet your bottom dollar I spent the extra money for a different form of folic acid. It wont hurt me nor will it hurt future babies. We walked into the local Super Supplements and we walked around baffled at all the different options, asked a quick question with the gentleman at the front and made our selection. Upon check out I was really concerned that just maybe I wasn't buying the right one. I expressed my concerns to my dear hubby and a different guy at the register asked me a few questions. I mentioned it was for a MTHFR Mutation and he was quick to show us exactly which one I needed. You could tell he was a little passionate about this, and incredibly knowledgable. Perhaps, with how common it is, his wife, or even him, has been diagnosed with MTHFR. What was even cooler, he said his dream in life is to see that all prenatal vitamins start to contain the methlyfolate that is easily converted in your body. C and I walked away incredibly impressed and even more thankful that he took the time to share with us his dream and help us find what was right!

Back into Limbo land again, but at least I have a little something to hang onto. Driving in the car I clung to my new vitamins and cried. One step closer and I knew that the guy who helped us check out was a gift from God. At that moment even C said, "Babe, we're one step closer to our baby". 

I am relieved to have something. I am excited to learn something new. I am thankful for the resources we have available when God give them in His timing.