We are approaching the one year anniversary of the day I got a fetal MRI while 26 weeks pregnant with Marsaili. If you're new here, we discovered that our daughter had multi-system abnormalities at my 20 week anatomy scan, which kickstarted a series of visits with multiple specialists over the course of following 15 weeks. On March 21, 2022, about 6 weeks after my anatomy scan, Josh drove me to the radiology department for a fetal MRI, which is a noninvasive imaging test that uses magnetic resonance imaging to provide more detailed information on the anatomy of a baby while in utero. It was at this appointment that we realized just how medically complex Marsaili might be. This was also the very first time we heard the diagnosis name "Lissencephaly."
Lissencephaly as defined by the National Institute of Neurological Disorders and Stroke is "a rare, gene-linked brain malformation characterized by the absence of convolutions (folds) in the cerebral cortex and an extremely small head (microcephaly). The word Lissencephaly literally means 'smooth brain.'" Lissencephaly is considered a rare disease as it is estimated to affect only 1 in every 100,000 babies. At the time that we completed our fetal MRI, confirming Lissencephaly was nearly impossible due to Marsaili's level of development, the increased size of the ventricles in her brain, and the fact that the amniocentesis and three genetic tests we had done after my anatomy scan did not reveal any of the typical genetic markers for Lissencephaly. However, it remained one of the primary diagnoses on the differential diagnosis list for both the radiologist and our perinatal specialist. Marsaili's diagnosis of Lissencephaly was officially confirmed by a pediatric neurologist while she was in the NICU in May of 2022 after a series of head ultrasounds and MRI's.
Lissencephaly is technically an umbrella term for a group of disorders that are characterized by abnormal folds and grooves of the brain. There are multiple subtypes of Lissencephaly, each with their own unique pathogenic characteristics. In addition, each person with Lissencephaly is unique in not only the way the brain's structural anomalies present, but also in the way these abnormalities affect their function. However, in general, people with Lissencephaly present with difficulties swallowing, seizures, poor growth, global developmental delay, and other complications. Lissencephaly is considered a terminal illness and because most children with the condition are at a severely increased risk of contracting respiratory diseases (like aspiration pneumonia) and status epilepticus (seizures lasting longer than 5 minutes or multiple episodes within 5 minutes), the life expectancy is estimated to be around 10 years.
These statistics and details regarding the disease weighed heavily on our hearts every day leading up to Marsaili's official diagnosis, and they continue to be a heavy burden to carry. The anticipatory grief that we grapple with on a daily basis is something no parent ever expects to navigate when they see those two pink lines on a pregnancy test. We do find hope in the truth that ever changing medical interventions continue to make it possible for children like Marsaili to have an improved quality of life. We also find hope in the fact that my prior work as a physical therapist has made it possible for us to navigate the medical world more easily and advocate for her to receive the services she needs. We celebrate every milestone no matter how big or small. We have released expectations but we never ever set limitations. Our ultimate goal is for Marsaili to feel loved and valued every single day that we are blessed to have her here with us.
If your heart feels heavy right now and you're wondering why we choose to share these details of her diagnosis so openly, please know that every person who becomes more equipped with knowledge about rare diseases and disabilities becomes another voice for advocacy. When we know more about the experiences and roads that other people are walking, we are able to show more empathy and compassion for them in their circumstances. Stereotypes, slurs, and stigmas are birthed from ignorance. When we take the time to educate ourselves on the way other people experience the world, we become better friends, better advocates...better humans.
My daughter has a terminal illness and her life has value. My daughter experiences the world differently and she can teach you about resilience, joy, and perspective. My daughter has Lissencephaly...it's LISS, not LESS.