I left off last at the glorious abnormal genetics screen.... and the results are in!!!
Last week we found out I was a carrier of Bardet-Biedl syndrome and I am also compound heterozygous MTHFR deficient. I had absolutely no idea what either of these things were, so naturally in my "control freak" nature I had to do as much research as I could so when I talked to Dr. H I would ask the right questions. This "I-think-I'm-a-Doctor" research has it's pros and cons---- PROs are I met alot of awesome people online that have the same as I do (regarding the MTHFR) and I learned a lot of valuable information. CONs are the information you find out that you REALLY don't want to know...the scary stuff.
Anywho--Here is what these diagnoses mean.
BB syndrome is a genetic disorder. It causes vision problems, terrible kidney abnormalities, genital abnormalities, extra little fingers and toes, etc... There is no cure for this syndrome. Upon reading all of the information to say I hyperventilated is an understatement. I would never intentionally want to pass this along to my child. It is a lifelong illness, and sometimes the life expectancy is not good. And let's go ahead and get what I said straight---- I said INTENTIONALLY pass on to my child. This is one of the things that I have struggled with the most. I could only hope and pray Colby was not a carrier of this genetic disorder too. If he was, this would alter our "operation" drastically.
MTHFR is also a genetic disorder in which I do not create folic acid like I should. Studies show that it can cause "recurrent early pregnancy loss". I know most about this disorder from the awesome people I've met online in groups and also friends of mine that have this deficiency. I'll get to more about this one later.
So jump to this week....Colby and I had an appt this morning before the rooster crowed to meet with Dr H about all of these results, and to actually get the report from Colby's lab results. We sat down in his office and he pulled our chairs directly in front of the HUGE flat screen TV he uses a computer monitor (oh the life of a reproductive endocrinologist) so we could "make sure we could see everything clearly"-- immediately I was like "oh yay..here we go.more bad news"
The only thing I was looking for was the BB syndrome and PRAISE THE LORD Colby is not a carrier...Dr H could tell I was still very concerned and he made sure to tell me "it's okay, you will not give this to your child". After that point- the appointment was much better.
We found out that Colby is also compound heterozygous MTHFR deficient..but that it really means nothing because he's the boy. What are the odds right? Leave it to me and Colby!
So now we need to decide what to do about about my MTHFR--- Dr H explains to me that I need to take extra folic acid along with my prenatal vitamins because MTHFR is known to cause neural tube defects (spinda bifada)- and that I also need to begin taking a baby aspirin everyday because MTHFR causes blood clots, which is the reason for recurrent pregnancy loss.
In all my " I think I'm a Dr" research, and talking to my friends with this same problem-- I've also read that Heparin injections can help with MTHFR. Dr H tells me that this will strictly be my decision-- that there aren't enough research studies to show if it's worth it, and that he wants me to make an informed decision.
I decided I wanted to do the Heparin. I explained to Dr H that I wanted to do everything possible to better enable me to carry a baby--- that way if the decision for Plan B is ever here, I can make it knowing that I did everything I could to carry a child of our own. he told me he understood and the next time we are pregnant I will start the Heparin shots. They will be twice a day and I will take them throughout the whole pregnancy.
So now the "Operation Baby Amis" will begin again. To be honest, I am absolutely terrified and Colby is absolutely excited. I never dreamed that pregnancy would be a scary thing for me. The emotional part of these last 2 years has been worse than the physical part (besides that sonohystogram that could pass for a torture device) has ever thought about being. That's where this blog comes in to play....Infertility is a life changing event. You feel scared, sad, anxious, confused, psycho, and you also mourn. The mourning part is the hardest part...because you aren't sure what you are mourning for, but it's a mourn like you've lost someone. Hopefully, that part of the journey will be over, but I know that it may not be the case- and the journey may just be really getting started. But.. in the meantime, just please pray for us and our baby-- whether that baby comes from my tummy or from another part of the world--- and please pray for my dear friends who are also going through this same thing.
Thanks for reading..updates to come soon :)
On a much brighter note...On November 15th, after one of the longest days EVER, Colby and I have a NIECE... Miss Hallie Lauren Mixon
I may be a little biased, but you know this is one of the sweetest faces you have ever seen :)
