Tuesday, July 23, 2013

Looking for answers

Eric and I went to the genetics councellor on July 15th.  In their opinion, they didn't think it was necessary for us to be karyotyped because the chromosome analysis of our last 2 losses were tetraploidy (boy) and Trisomy 16 (girl).  They explained that neither of these are caused by translocations.  I still asked for both of us to be tested because I had a natural miscarriage 3 years ago and that wasn't analyzed.  Who knows what chromosome abnormality that fetus had.  So we are waiting for results from our karyotypes.  If all is well we want to have CGH ( like FISH but more advanced as it tests all 23 chromosomes)

Trisomy 16

July 28th we decided to go to the RE to ask him for Repeat pregnancy loss testing. The high risk Ob had done some RPL testing after my second loss in March but she said everything was fine.  Good thing I asked for a print out of my labs because I found out that I tested positive heterozygous for MTHFR C677T.  She said that it is a problem when you are homozygous for the gene. I did some research and found out that the MTHFR gene affects how our bodies process B vitamins wether you are homozygous or heterozygous.
A healthy MTHFR gene is responsible for converting folic acid into Methylfolate (the ‘active element’ form of Folate that your body uses).This conversion from folic acid to Methylfolate is a 4-step process, but if someone has an MTHFR genetic defect, then the enzyme transformation between steps 3 and 4 is mutated which causes many health problems.  
Mutation 677 – Heart disease, heart attack, Stroke, Blood clots, Peripheral neuropathy, Anemia, Miscarriages, Congenital birth defects, fibromyalgia.
symptoms of toxin build up may be linked to one or both of the MTHFR defects - nausea, diarrhea, abdominal pain, liver and kidney dysfunction, tachycardia, pulmonary fibrosis, asthma, immune problems, hair loss.

Well I have had 3 miscarriages, I have fibromyalgia, have had kidney stones and allergy induced asthma, hair loss (since I was 20), pain in my hands and an elevated ANA which signals some kind of auto-immune issue though the rheumatologist is not sure what.

So bottom line my body cannot process the  folic acid in my prenatals!  I wish I had known this sooner.  July 5th I started taking special prenatals that have Methlfolate (B-9) and Methylcobalamin (B-12)

The RE tested my homocysteine levels. He said IF they are elevated I will have to be on blood thinners when I get pregnant again. He was baffled as to how I got pregnant "spontaneously" twice in 3 months. I laughed when he tried to take credit by saying maybe the fertility treatment I had ( a year ago ) had caused me to get pregnant.. Well if it helps his ego after he told me it was impossible for us to conceive naturally then fine, he can believe that! I just want some answers! All I know is that after ivf my bbt charts were all crazy and they didnt go back to normal till almost a year of acupuncture treatments!!