Hello, this is Thursday night Laura who got behind writing her blog, which is why this is being published so late! I did get an interview offer today though– Bay Path University! It’s a hybrid/mostly online program, so I’ll be interviewing on Zoom sometime in March!
This week I wanted to talk a little more about my day-to-day advocacy work, by sharing a story from the NICU. I volunteer at Primary Children’s Hospital, which up until recently, mostly meant I sat in the playroom and did crafts with kids. However, about 2 months ago, I decided to try out the nighttime NICU shift. In this role, I spend 3 hours on Saturday night wandering around the hospital, mostly the NICU, looking for babies to hold.
A few Saturdays ago, I was wandering up and down the halls of NICU, looking for a baby crying. In our NICU, babies are arranged into little pods, 4-6 cribs to a pod. I passed by the entrance to a particular pod, and a baby was crying, but a nurse was tending to him. I decided to ask anyway if she wanted me to try to hold him. She pulled him in a little bit closer and said that she wasn’t sure anyone could help with this situation. But, after a second she said I could try and she let me into the pod and into a rocking chair. She handed me the baby. I could then see that this baby had a large, deep hole extending from his mouth, into his lips, cheek, and nose. (Which means, his screaming was being amplified through this deep tunnel and wide opening, btw.)
My uncle was born with a cleft lip/palate so I recognized the condition. I could see though why the NICU nurse was hesitant to hand over this special baby. The face is the first thing we look at when we meet a new human, and to have such a distinctive and painful-looking feature could definitely spook a an unsuspecting NICU cuddler. I’m glad that she let me hold him though. For one thing, I managed to calm him down! It look like 30 minutes of scream-full cuddling, but eventually he went to sleep.
Yeah haha, that’s what they don’t tell you about “baby-cuddling” volunteer opportunities. You won’t be cuddling peaceful sleepers. Usually, it’s screaming babies that sometimes are hooked up to 10 different tubes and wires and looking very sick or distressed. It’s different than what you’d expect, but all the more worth it.
Holding this baby got me thinking about craniofacial genetics. How do facial feature form, what can go wrong, and what are the causes? This week I wanted to share some research on craniofacial conditions and their causes. These conditions are common subject matter in prenatal and pediatric genetic counseling, and yet I knew almost nothing about their causes, including genetic syndromes. Let’s dive in and learn together.
Types of Craniofacial Malformations:
Cleft lip and palate is the most common facial malformation seen in newborns, and mostly what I researched for this post. However, failures of craniofacial development can present in other ways too, such as craniosynostosis (abnormal skull closure that morphs facial features), hemifacial microsomia (under-development of tissues on one side of the jaw), or deformational plagiocephaly (misshapen skull due to abnormal pressures en utero). Sometimes these features present with one another, or with other congenital conditions, in which case, it’s more likely we’re looking at a genetic syndrome.
Craniofacial Malformation Causes:
As someone genetics-minded, when I first lay eyes on a baby with such a distinctive face, I’m thinking it’s genetic. It turns out, a lot of these conditions are actually environmental!
Deleterious environmental influences en utero are called teratogens. Teratogens can include things you’d typically think of, like alcohol or illicit drugs, plus things you wouldn’t think of like prescription medications and exposure to certain viruses. Stressors like heat, pressure, and hypoxia can also impact a developing fetus.
In a paper by Sulik, Cook, and Webster, model organisms had an increased incidence of craniofacial malformations when pregnant specimens were exposed to methotrexate and external stress. It’s also well-documented that smoking or alcohol use lead to these types of birth defects.
So for sure, craniofacial malformations can be environmental.
But they’re genetic too right, or else why would this blog post exist?
They’re Also Genetic!
There are so many genetic causes of cleft lip and palate and related congenital issues. They’re associated with several syndromes. Van der Woude syndrome is one common genetic cause– it’s literally a syndrome characterized by facial development issues, sometimes combined with other issues like congenital heart defects.
But I think what’s interesting to me is that not all genetic craniofacial malformations have the same genetic cause. Before I studied genetics in depth, I would have assumed two organisms with the same phenotype (cleft lip, for example) would have the same mutated gene. Not true though. Other syndromes can cause similar symptoms, or in many cases, it’s totally unclear what caused the phenotype at all.
Genetic Counseling and Craniofacial Malformations
Think back to the NICU baby. As a future genetic counselor, I’m inclined to think both about the genetic and environmental causes of his condition, but as I held him, I also thought about what life will be like for him in the future. You know psychosocial stuff. I think what drew me to write about this topic is thinking about the significance of having a genetic issue with your face. It won’t hurt you the way that a congenital heart defect or hereditary cancer syndrome might, but it’s tough in a different way. It’s the furthest thing from an invisible disease. This baby, I was told, was undergoing surgery to correct the hole. Still, there could be scars or morphed features in his future. I thought about how that impacts someone going through childhood and puberty, how it changes their mental health and self-image.
I hope that baby grows up to be amazing and confident in himself. I can imagine it’s tough to have a defect that’s so apparent– the first thing people see when they look at him. It made me aware that when I’m counseling, in the future, I should be extra aware of the psychosocial impact of having a highly visible disorder, versus something not immediately apparent. I’m interested to explore more how to counsel in a way that’s conscious of these issues!
I’m excited to report on my UAMS Interview here next week! I have so much to share! I’m now done hearing back from schools, so I’ve just got Bay Path interview in my future, and then Match Day!
Citations, because this is low-key a research paper:
Jasmin, L., MD, & Sather, R., RN. (n.d.). Overview of Craniofacial Anomalies. Retrieved from https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=90&contentid=p01830
Van der Woude syndrome. (n.d.). Retrieved from https://rarediseases.info.nih.gov/diseases/8414/van-der-woude-syndrome