If your following this blog, you know that I had to have Alex get some testing done. His sperm count/semen analysis test didn't get enough fluid to analyze, so he has to re-do the test, and they will have the results by Saturday. *sigh* more impatient waiting to do... and you all know how I love patience...
Alex's doctor also tested him for Factor V and MTHFR and those test results came back today, and he has Compound MTHFR...
I have A1298C, which means that when he and I have children, they have a 75% chance of having A1298C, either Heterozygous, or Homozygous, since both parents have at least 1 copy of A1298C, and they have a 25-50% chance of having Compound Heterozygous MTHFR.
That means our pregnancie(s) are even more "high-risk" now because our risk of having a child that has down syndrome, or neural tube defects is a lot higher...
I don't know whether to be bothered by this, or not. They say a large amount of the population has these MTHFR mutations, and it certainly does explain the memory issues with Alex, and the grey balding ect. but its just one of those, you can never seem to win with genetic things...
Gabriella-Marie
Born: June 25th 2009My First Child (Who did not result in miscarriage or stillbirth) She has 22Q Deletion Syndrome (DiGeorges) She was born with an underdeveloped left ventricle that was fixed in utero. She also has a Heart murmur, Atrial Septal Defect and PFO (which resolved in 12/5/2018). She also has Aspergers Syndrome (High Functioning Autism, Level 1 Autism ect.), Sensory Processing Disorder, DMDD, ODD, ADHD-Combined and several other behavioral and physical health issues. She is my CHD and 22Q Warrior. She is my world, my life, my meaning for existence. She has my attitude, combined with her fathers stubbornness. She certainly shows us that she will accomplish anything and everything.
Lucius-John
Lucius-John is Matt and I's son. He is my second earthside miracle baby. Born June 8th 2017 at 38 weeks. He Has Hemophilia B and Hypogammaglobulinemia (A Type of Rare Severe Immune Deficiency)
Kayleigh-Marie Faith
My Sweet Kayleigh was taken from us at 20 weeks on May 2ed 2008. She had HLHS and passed as a result of a partial placental abruption and several clots in her cord. (Yes, I have watermarked this. Unfortunately there are sickos in todays world who steal photos like this)
Andrew
Andrew is my amazing fiancee, and the love of my life. He brought light back into my life, and he grounds me when I need grounding. He is amazing with both my children and loves them like his own. This man never ceases to amaze me. We're getting married July 10th, 2021
Matthew
Matthew is Lucius's father. Sometimes in this blog, I may mention from time to time, ramblings about his life, or stuff that involves him, or whatnot, so figured I'd include a picture to lessen confusion.
Jason
Jason is Gabriella's father. Sometimes in this blog, I may mention from time to time, ramblings about his life, or stuff that involves him, or whatnot, so figured I'd include a picture to lessen confusion.
My Angel Babies
I have had 1 stillborn at 20 weeks &
I have had 7 1st trimester miscarriages &
I have had 2 second trimester miscarriages.
I have had 1 chemical pregnancy.
1 in 4 - I am the Face
2 comments:
:( oye! just one more thing! are the drs going to have you take a higher dose of folic acid to try to help prevent the neural tube defects? (i mean more then just what would be in a prenatal?) anything they can do to lessen the chance of downs?
Sonya, I'm not too sure, sadly. I have been doing research on MTHFR and I know that MTHFR is BAD with pregnancies and often is to blame with pregnancy losses. With MTHFR, your body doesn't absorb folic acid the proper way. Metanx is a good drug that has the active form of folic acid, l-methylfolate, as well as the active forms of b6(Pyridoxal 5′-phosphate) and b12(Methylcobalamin). Metanx has 3mg of l-methylfolate, 35mg of Vitamin b6, and 2mg of b12, though I am not too sure what or how this will affect us via pregnancy. I am going to talk to all my specialists about this, and especially the consultation discuss how or what should be reccomended. Alex has the worst combination considered for MTHFR, which is compound, meaning he has 2 mutations of 2 separate MTHFR genes... I only have 1 mutation, but I have several clotting issues, so I am honestly not too sure :/
Post a Comment