The author and Sarah in 2014.

Two weeks after our daughter Sarah’s birth, my husband Ben and I found ourselves standing in a geneticist’s exam room. I placed Sarah’s baby carrier on the floor and she kicked her legs and cooed at my feet.

The geneticist, Dr Brown, and her assistant entered the room and briskly introduced themselves. After measuring the circumference of Sarah’s head, Dr Brown plucked an old medical textbook from the shelf behind us, blew the dust off it, and instructed her assistant to copy the page “about Apert syndrome”.

This was the second time I’d heard that phrase – Apert syndrome – and still, I didn’t know what it meant. Not fully, at least.

I knew that Sarah’s head was shaped differently than most newborns, which we were told was likely due to the fusion of one or more sutures in her skull. She was born with what we affectionately called mitten hands, because her fingers were conjoined and wrapped in one smooth layer of skin. Her feet were the same.

Dr Brown spoke with confidence, as if she’d had this conversation with enough people throughout her years of practice that Sarah’s diagnosis was obvious. I don’t recall the words she spoke that day, not specifically. Everything she said was filtered in muted and muffled tones, as if we were standing in a tunnel and everything spoken changed into gibberish – nonsense.

Ben stood to my right and responded to Dr Brown with nods and “mm-hmms”. I let him take on this role, because all I could do was skim the photocopy of that single page from the medical textbook. We’d already heard that most people with Sarah’s diagnosis would undergo between 20 and 60 surgeries throughout their lives, and I needed to understand why.

Hands shaking, I read each paragraph with increasing fear, as dense medical terminology became word soup in my overtaxed brain:

Craniosynostosis: premature hardening of one or more cranial plates of the skull during foetal development that requires multiple corrective surgeries to prevent permanent brain damage or death;

Syndactyly: fusion and webbing of both hands and feet, also present at birth and requires complex orthopaedic operations to separate each digit individually;

Dental development: small mouth, often vaulted or cleft palate, may need years of oral-maxillofacial surgery and orthodontics;

Nervous system: most severe cases include chiari malformation, where a portion of the cerebellum pushes through the base of the skull. Hydrocephalus is possible and should be monitored regularly through CT scans of the brain and ophthalmological exams of possible intracranial pressure behind the retinas;

Developmental delays: likely will need occupational and physical therapies for assistance in developing fine and gross motor skills;

Intellectual disability: some people with Apert syndrome may test at a lower IQ than average and will need academic support.

The litany of potential co-morbid conditions continued with “other bodily systems” affected by this slight alteration in Sarah’s genetic coding. Maybe she’d have cardiovascular concerns, like a heart murmur or a congenital heart defect. She could end up with skin problems, like eczema. I glanced at Sarah and noticed the fungal scales curling around her hairline, too – a severe form of cradle cap.

My heart thrummed as the words on the page blurred. Gastrointestinal issues.Genitourinary (I’d never heard of that........

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