This post is dedicated to Briana (@journey2babywilliams) and her husband. When Briana shared their story with me, I knew it would help a lot of couples undergoing treatment. In infertility treatments, there are times when some things are unknown which can be frustrating and an emotional burden. Other times, things may seem quite straightforward and easy to solve. However, more times than not, diagnosis is easy to make but the success of the treatment is unknown. In many cases, genetics plays a big role on why a couple may not be able to conceive. In the case of Briana and her husband, Briana's genetic makeup played a role in their difficulty to conceive. Of course, there are always other aspects which also play a role but genetics can be an important part of the puzzle.
Their story started 4 years ago when they began trying to conceive. Briana had 2 miscarriages before they started trying. One with her husband and one from a previous relationship. In 2016, she was diagnosed with MTHFR gene mutation that causes miscarriages and puts her at a higher risk for blood clots. She was also diagnosed with an autoimmune disorder known as antiphospholipid antibody syndrome. This disorder puts her at a high risk for blood clots, strokes, heart attacks and miscarriages. Due to these, they have had difficulty conceiving and maintaining a pregnancy. Her husband also suffers from a low sperm count. A combination of all these factors is causing a difficult road to pregnancy. They are facing many obstacles but are staying optimistic and strong through it all..
Let's look at the science behind a MTHFR mutation and the effects it may have. MTHFR stands for an enzyme known as Methylene Tetrahydrofolate Redutase and has a gene found in humans. It is mainly responsible for the breakdown of folic acid to folate through a complicated pathway. This breakdown causes the production of a byproduct known as homocysteine. In certain individuals with MTHFR mutations, the level of homocysteine may be elevated even in low levels of folic acid. This buildup can cause problems during pregnancy and lead to miscarriages, pre-eclampsia, or birth defects. Folate is required in the body for important processes such as making DNA, DNA repair, and producing red blood cells. You may have heard of pregnant woman being prescribed folic acid during pregnancy, however, this is only beneficial is they have a normally functioning MTHFR gene. Now, this gene mutation is not that uncommon and doesn't necessarily guarantee pregnancy related complications. However, if you have had multiple miscarriages, history of pre-eclampsia, or a family history for this gene mutation, it may be worth to get tested. Some common treatment options include Lovenox/heparin injections, daily aspirin and prenatal L-methylfolate. In fact, Briana has been prescribed Lovenox for the duration of her pregnancy. The best course of treatment can be determined by your specialist.
Another factor that played a role in Briana's difficulty to conceive is the autoimmune disorder antiphospholipid antibody syndrome (APS). With autoimmune disorders, the body produces antibodies that attack and damage healthy tissue or cells. In APS, the immune system is producing antibodies against phospholipids which are a type of fat found in all living cells and cell membranes. When these antibodies attack phospholipids, cells of all sorts can be damaged. Specially when blood cells are damaged, it can cause the formation of blood clots. Even though blood clotting is a natural process and necessary for bodily functions, too much clotting can block blood flow and cause many issues. Some individuals may have these antibodies but not show any signs or symptoms, only if a person has shown symptoms of the disorder, can they be diagnosed with having APS. With APS, there are an array of different manifestations such as: stroke, heart attack, liver damage, miscarriage, pre-mature birth, and eclampsia. Unfortunately, there are currently no cures for APS, however medication that reduces risk of blood clots can help with symptoms. Blood thinners such as heparin and aspirin are commonly prescribed.
Having a closer look at these genetic disorders, they clearly make it difficult to achieve a pregnancy but it is not impossible. Once diagnosis has been made, there are some treatment options available and women with these disorders can carry a baby to term and have a healthy pregnancy. As Briana mentioned to me, it is important to not lose hope and try to persevere through the challenges. Science has come a long way and is continually advancing even more. Some disorders that may have been impossible to treat in the past are now being routinely treated. Hopefully one day, the matter of infertility can be a thing of the past with successful treatments available for all. If you have any further questions regarding these two conditions, please feel free to contact me directly.
