by Jennifer Lendvai-Lintner
The geneticist calls us after hours and at home. She has results. Mercifully, she doesn’t adhere to business hours when that is the case. Sitting on the edge of our bed my husband Géza and I, with a pencil and notebook each, bend over the speaker phone. We are two new students aiming to capture every word on the first day. Our daughter’s diagnosis is very rare. The geneticist spells it letter by letter, so we get it down correctly. Unfortunately, the onslaught of information that follows is mostly in a language we do not speak. My brain and pencil jumble the unfamiliar words. The ones needing no translation pulse on the page and in my head.
Extremely weak muscle tone
Intellectual disability—don’t know how severe
Delay of milestones
Speech delay or absence
The geneticist can’t say if Hilde will be able to sit up or even roll in her first year. She thinks—maybe—we will see her smile. If we discuss prognosis past the first year in that conversation, I can’t recall. I’m stuck at week two of year one anyway with an infant who doesn’t breathe on her own and doesn’t eat on her own—two out of three skills she needs to break out of the NICU. Absorbing beyond this is dizzying.
The news we get is courteous because it takes only one prisoner at a time. Géza is strong this day, while I crumble. I can’t emerge from our bedroom until the following morning when it’s time to go back to the hospital. As glass doors admit me in a whoosh of hospital air, I know the NICU team will have this new information about our Hilde. The diagnosis has forged an overwhelming fear I can’t shake. They might give up on her.
Pallister-Killian mosaic syndrome. In bold print, Hilde’s diagnosis is atop the photocopied handouts distributed by the attending to the NICU team. Two stapled sheets of paper. I read these scant pages, which comprise the entirety of what our comprehensive, multidisciplinary NICU team knows about our girl’s condition. They are our experts and guides, yet they know as much as I do right now.
Hilde’s nurse asks how I am doing. I don’t know how I am doing, so I can’t say. Instead, only on temporary hiatus, tears recommence. They leak in an unbroken stream. Hilde’s nurse protectively snaps the curtain around us. She knows the only enterprise that matters. She gathers Hilde and all her NICU accoutrement, and nestles her in the crook of my arm.
This is the only place to go. From now on, it is both where we begin and where we land. We face high mountains and travel dark, unfamiliar roads, but from here we can do anything. And we do.
December 4th is Pallister-Killian mosaic syndrome (PKS) Awareness Day. Those diagnosed with this rare condition have four copies (instead of two) of the short arm of chromosome 12. A range of symptoms may be present in those who have this chromosomal anomaly. Learn more by visiting:
Children’s Hospital of Philadelphia
[Image Description: Jennifer holds her daughter Hilde the day after Hilde's PKS diagnosis. Jennifer wears a pink top. Hilde, in a light green swaddle, is snuggled in the crook of Jennifer's arm. A cannula and NG tube are visible on Hilde's face.]