Contents
Genetics 101
Overview
Via traces her family’s Russian-Polish Jewish and Brazilian roots, recounting how her parents met and settled in New York. She explains genetic counseling after August’s birth: doctors identified a TCOF1 mutation. Both parents are carriers, and Via carries the gene, clarifying August’s condition and its inheritance.
Summary
Via opens by outlining Dad’s family history: Jewish relatives from Russia and Poland who fled persecution, with grandparents arriving in New York and Argentina. Poppa and Tata met on the Lower East Side, married, and had Dad and Uncle Ben.
Via then describes Mom’s Brazilian side. Grans and Agosto left Rio for Boston, where Mom and Aunt Kate were born. Mom and Dad later met at Brown, moved to New York, had August, and settled in North River Heights.
Via notes she has searched old family photos without seeing any resemblance to August’s facial differences. After August’s birth, genetic counseling revealed a previously unknown mandibulofacial dysostosis linked to a TCOF1 mutation on chromosome 5, complicated by hemifacial microsomia within the OAV spectrum.
Explaining inheritance patterns, Via recounts that such mutations can arise spontaneously or be inherited, sometimes multifactorial. In August’s case, doctors identified a specific single nucleotide deletion. Though not apparent physically, both parents carry the mutant gene—and Via confirms she carries it as well.
Who Appears
- Via (Olivia) PullmanNarrator; recounts family heritage and reveals she carries the same TCOF1 mutation.
- August (Auggie) PullmanSubject of the genetic explanation; his condition is linked to a TCOF1 mutation.
- Isabel Pullman (Mom)Via’s mother; Brazilian heritage; identified as a carrier of the mutant gene.
- Nate Pullman (Dad)Via’s father; Russian-Polish Jewish heritage; identified as a carrier of the mutant gene.
- GransVia’s maternal grandmother from Brazil; part of family history recounted.
- AgostoVia’s maternal grandfather, deceased; mentioned in family background.
- PoppaPaternal grandmother; Jewish immigrant lineage; part of family origin story.
- TataPaternal grandfather; met Poppa in New York; anchors family history.