Our Journey Begins

We started this blog to keep our friends and families up-to-date on Claire's condition. We also hope it will reach other families who might be dealing with the same difficult diagnosis.



A little over a month ago, when I was 15 weeks pregnant, I asked my OB for an ultrasound for no other reason than that I was feeling paranoid and wanted to make sure the baby was "still there." Although the baby was "still there," our OB told us she saw more fluid on the brain than she would expect to see at 15 weeks and referred us to a perinatologist.



The perinatologist confirmed the presence of fluid on the brain and diagnosed the condition as "ventriculomegaly." He recommended an amniocentesis to rule out any chromosomal abnormalities, viral infections (like Toxoplasmosis or CMV), and bacterial infections. We scheduled the amnio for first thing the next morning.



During this visit, we learned that the ventricles measured 13 mm. (Initially, we were told they measured 18 mm, but due to a miscommunication, misstatement, or other mistake, we later learned that they actually measured 13 mm.) To give you an idea, "normal" ventricles measure between 5-10 mm, "mild to moderate" ventriculomegaly is classified as anything between 10-15 mm, and "severe" is anything above 15 mm. We were told that there was a "limited opportunity" for a normal outcome, given the amount of fluid present at such an early gestational age. We were encouraged to consider termination, since the baby likely would have severe brain damage as a result of the pressure being placed on the baby's brain by the excess fluid.



Our amnio results trickled in over the following week. Chromosomal abnormalities were ruled out. Viral infections were ruled out. Bacterial infections were ruled out. Each report we received seemed like a small victory, and we began to feel positive.



During this period, I started taking cod liver oil, which is high in DHA, a compound known to enhance fetal brain development. Through fervent internet researching, Brad had found a few websites where women had reported seeing a decrease in ventricle size after taking cod liver oil. We thought it was worth a try.



We returned to our perinatologist two weeks later for a follow-up visit. Having ruled out all the "usual suspects" and believing we were facing a "stand-alone" condition, we felt positive. Our hopeful spirit was soon dashed by the perinatologist, who told us that the ventricles were now measuring 14 mm & 15 mm. He also said that the brain looked "worse" and that the mid-brain looked "disorganized." He suggested our baby might have a condition called "holoprosencephaly," where the brain fails to split in the first few weeks of gestation, and told Brad to "google it." We were again advised to terminate the pregnancy.



A week later, we saw a pediatric neurosurgeon, who reviewed our ultrasound images and told us he did not believe our baby had holoprosencephaly. He said he would need a fetal MRI to confirm, and we scheduled one for the following week. We also sent our ultrasound images to a Professor of Neurology & Pediatrics at Stanford University who specializes in holoprosencephaly research. He also indicated that he did not see holoprosencephaly and recommended a fetal MRI.



At 19 weeks, we had a fetal MRI. It was uncomfortable, but uneventful. After reviewing the images, both the pediatric neurosurgeon and the professor concluded that the baby did not have holoprosencephaly. Both believed the baby had severe ventriculomegaly, likely caused by aqueductal stenosis (a blockage in the passageway through which cerebral spinal fluid travels between the spine and the ventricles). At last, we had a definitive diagnosis!



Although we know that we have a long road ahead of us and that Claire likely will face challenges when she is born, we are resigned to the fact that all we can really do is wait and pray. It will take weeks, months, and maybe even years after Claire is born to determine the extent of her brain damage, if any. During this difficult period, we have turned to our faith, and we have been amazed at how much strength and courage we have gained as a result. We have been uplifted by the prayers and concerns of our family and friends, as well as by the kindness of perfect strangers. We don't know what lies ahead, but we are confident that there will be blessings wrapped in our struggles.