This post is for any heart parents who are trying or someday plan on trying for another child. It is a post that we have struggled with but in good conscience cannot remain silent on. This is the story of how we believe (through the Grace of God) we were finally able to have a healthy child.
When Katie was first diagnosed, we were told by the doctors that the cause of HLHS was unknown. That there was nothing we could have done to cause or prevent her heart defect. My OB said it was, "a random fluke and probably won't happen again." When I asked if there were any tests we could run on me or if we could check to see if I was deficient in any vitamins before getting pregnant again, he said it was unnecessary.
"How old are you?" Was one of the comments we received when first announcing our second pregnancy. As though my age was to blame for what had happened. That really, truly hurt and is one reason that I am even still reluctant to post. It's not easy to think about your age or your body being responsible for your child's death but its even worse to find out that other people are thinking it. A week and a half later, I would miscarry, making my self-doubt all the greater.
I was worried that the statement might be true. That in my early 30s I might already be too old to successfully have children. It was devastating. I wanted desperately for there to be something I could DO to prevent this from happening again.
We requested that testing be done on Lily after she passed to see if there was anything wrong. The results showed another seemingly unrelated "random fluke" that according to my doctor once more, "probably wouldn't happen again."
At that point we no longer believed our doctors. This was one too many random flukes to be plausible. The bible tells us to ask, seek, and knock. Up to this point we had only been asking. We prayed daily for God to provide us with healthy children or for Him to take the desire for children from us so that it would not be as painful.
The point at which we lost faith in our doctors was the point that we began to seek. We started doing our own research and God led us to read about a gene called MTHFR, which is responsible for breaking down and processing b vitamins in the body, including folic acid. Folic acid is a synthetic form of folate, which is incredibly important in cell reproduction and proper development in babies. It is the vitamin that doctors tell pregnant women to supplement above all else. It is the vitamin that the US government requires all wheat products to be supplemented with in order to reduce birth defects across the nation. It is also the vitamin that, due to its synthetic nature, people with certain MTHFR gene variations have trouble breaking down and processing.
Folate deficiencies can cause defects of the heart, brain, and spinal column. It could explain both of our losses. So far we had asked God for children in prayer. We sought out the information we believe He wanted us to have. At this point it was time to knock, to take action based on what we had found out. I went to my OB with the information and asked to be tested. He refused, saying he didn't believe it had anything to do with our losses. We went to a different doctor who agreed to the test.
The results showed that I am heterozygeous for an a1298c MTHFR gene defect, which slightly reduces my ability to process synthetic folic acid. This is one of several MTHFR defects possible and it is the one that is considered not so bad. The one that many doctors still claim have no affect on one's ability to have healthy children. Thankfully, we didn't need a doctor to believe us in order to treat it. The main treatment is to switch from synthetic folic acid (which requires several steps for the body to break down) to methylfolate, an already broken down form of folate. There were other things I could do to help as well. I switched to a prenatal that is easier for me to absorb. I took additional methylfolate and other b vitamins in thier easy to absorb forms. I changed my diet in order to avoid synthetic folic acid (which can actually block absorption of methylfolate. I cut a lot of stress out of my life. We took all of the steps we could think of to better our chances of a healthy child.
After having taken the new vitamins for a few months to allow them to get into my system, we began trying again. We didn't stop researching though. I went to see another doctor who suggested that I also get tested for hypothyroidism, which if left untreated can also cause birth defects. So far that month, pregnancy tests had been turning up negative so we decided to hold off a month to see what the hypothyroidism test said. Lo and behold a few days later on a Saturday I ended up taking another pregnancy test and this time it was positive! My hypothyroid test results came back that Monday so needless to say I called the doctor immediately to be put on medicine for hypothyroidism as well.
We believe that it was a combination of the MTHFR and hypothyroidism that prevented us from having healthy children. It was nothing we did. It was not my age. This is the way God created me and he created Katie and Lily according to His design also. But he did give us something that we could do to prevent it from happening again. We have felt led to share this information now that Ian is here safe and sound and healthy in the hope that someone else will be able to put it to good use as well. We are not saying that this is THE cause of HLHS but that it could be A cause and that there is a very simple fix if that is the case.