My story is lengthy but highlights medical errors and the importance of genetic testing before prescribing hormonal birth control.
At 16 years old, I was prescribed birth control due to a history of ruptured ovarian cysts. I went through the typical patient questionnaire, and when asked if I had a family history of thrombophilia, I was unsure. However, I reported that my mom had a heart attack at the age of 36, which was due to hormonal birth control. They went on to prescribe birth control for me. I took it, but after a while I decided to stop using it.
An Uphill Battle
Later, when I decided to try to conceive, I found myself in an uphill battle. I am now a mom to four wonderful children, but to get there, I had to overcome several significant obstacles. I endured six miscarriages, a placental abruption, and a pulmonary embolism (blood clot in the lung).
I was never offered genetic testing, despite all of these hurdles. My last miscarriage, a baby girl who was thriving at all weekly ultrasounds, occurred at 12 weeks. They could not explain the cause and denied testing me for genetic conditions, including clotting disorders. I had all the red flags—multiple pregnancy losses, a history of placental abruption, etc. But they still didn’t see the need, suggesting that the cost wasn’t worth the risk.
Hurdles Overcome, but Challenges Continue
After this last loss, I quickly conceived again and went on to have a beautiful baby boy! During my most recent pregnancy in 2020, I contracted COVID-19 at 34 weeks, and then went into labor early and delivered my fourth baby by C-section. Post-discharge, I developed a significant intra-abdominal infection, which required another hospital stay for IV antibiotics to be administered and for my C-section incision to be opened. Once discharged, the incision was packed daily by visiting nurses.
Despite these added risks for developing a blood clot and requesting testing, I was again denied. Until, at three weeks post-partum, I woke up at 3:00 am to feed my son and was struggling to breathe. I was gasping for air and in significant pain. I went to the hospital and was diagnosed with a sub-massive pulmonary embolism (PE). Following my PE, I was finally tested and learned that I have factor II prothrombin gene mutation, which undeniably increased my risks for miscarriages, placental abruption, and blood clots.
Implications for Genetic Testing
Following this, I asked our family’s pediatricians to test my children. I asked again following my children’s fractures — knowing that this trauma may increase their risk for a blood clot — and was again denied. I asked to have my daughter tested, specifically, to avoid her developing a journey that is similar to mine, but I have been continuously denied.
I have my Master of Public Health (MPH) and have decided to write about mandating testing for my dissertation when I pursue my PhD in public health. The maternal mortality rate for blood clots is significant. The morbidity and mortality rates for adolescents and young adults prescribed hormonal birth control could be reduced significantly by a simple test. Lowering the cost of these tests is an essential first step, but requiring them before hormonal contraceptives are prescribed should be mandated, or available to women who may be at increased risk for clotting. Even if it saves one life — that is, the life of a mother’s daughter — it is worth it.
While my journey led me to where I am today, many of the obstacles I endured, including navigating the trenches of pregnancy loss and a lifetime on anticoagulants, could have been avoided with one simple test.
