Thursday, August 12, 2010

The Good, The Bad, and the Worse...

Back from my relaxing weekend vacation. Thank goodness for some time away, although I wish that I would have that time now to reflect on the news that we have now received.

After our loss in June, I was distraught. I did not get chromosomal testing done, and now I wish that I would have. The RPL testing has confirmed that I have the MTHFR mutation. There are a few different types of the mutation that you can have, and each with a different severity. Below I have listed them. 1 being the worst and 5 being the least severe.

1. C677T & C677T (Two C Copies - C677T Homozygous)
2. C677T & A1298C (One Copy of Each The C & A - Compound Heterozygous)
3. C677T (One C Copy - C677T Heterozygous)
4. A1298C &A1298C (Two A Copies - A1298C Homozygous)
5. A1298C (One A Copy - A1298C Heterozygous)

I unfortunately have #1. The worst form of the mutation. MTHFR from what I understand (still researching) is a blood clotting disorder. It will cause many problems in pregnancy, such as down syndrome, trisomy, spinabifida, miscarriage, and implantation problems. Not only is this going to effect our plan for TTC, its a prognosis that will have to be treated forever. Having this clotting disorder means extra vitamins and blood thinners to prevent heart attack, stroke, and many other health problems.

I am thankful that I know what I am up against, however its too late to save the baby that we should have been expecting in December. Due to this Genetic Defect, my blood clots to much, preventing the baby from growing and thriving in the womb. My own body killed my baby. That's a tough thing to have to deal with.

Knowing now that this defect is ultimately going to try and prevent me from carrying my baby to term, and PCOS is preventing me from getting pregnant. All the odds are against us.

I am being transferred to a high risk Maternal Fetal Medicine doctor, and once there, I will find out exactly how to treat this. I am hoping for the best, but prepared for the worst.

My next question is if I should have my husband tested for this same mutation. I am guaranteed to pass the defect on to my child since I have both mutations. If he has both mutations, our child will also have both mutations. Knowing that your passing a genetic defect to your unborn child is heart breaking.

More bad news is that my liver enzymes are still high. I was tested in April when I got pregnant and my ALT level was 20, In June it was 39 and now in July it was 79... It should be under 37. I have been tested for every disease that would effect your liver, and they are inconclusive. I feel like I am on medical mystery sometimes. I just want to know whats wrong, and I want to fix it. Why cant this be easy for once.

Well now that I have bored you with the bad news. The good news is that I am very open to a Foster to Adopt situation. Its something that I had thought of before trying to conceive, and I think about it even more now that we are having so many problems. I have done a lot of research, and I am all for it. My hubby is a little hesitant, as he does want our own biological child. I think that he needs time to warm up to the idea, and hopefully with some research he will decide its a good idea for us. We will see...

As always, please keep us in your prayers....


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