"Genomic DNA was fragmented and indexed to prepare individual libraries."

a random sentence in a medical report

Photography by Emma Hartvig

A while back I had a conference with a neurologist at UCLA who was intrigued enough by Sophie that he referred us to the Undiagnosed Disease Network, and she was accepted into their research program. The doctor specializes in “the diagnosis and care of patients with genetic neurological disorders including cerebellar ataxia & ataxia with oculomotor apraxia, spastic paraplegia, leukodystrophies, and many others.”

Many others.

The UDN did genetic sequencing/profiling, taking blood from Sophie, from me and from her father.

Two years went by.

They also did a tiny skin biopsy from the inside of her forearm.

I got an email from them yesterday with the subject line UDN Wrap-up Letter. It’s an eight page report.

Here are some bits from the report:

Genetic Sequencing

Results related to primary indication:

The analysis did not identify any variant that can explain the patient's clinical phenotype.

Medically actionable secondary findings:

None Detected.

Research Tests

Skin biopsies were performed at UCLA during the clinical evaluation on [blank]

Fibroblasts were cultured and RNA was extracted from cultured fibroblasts and sent for RNA sequencing. This transcriptome sequencing data will be analyzed and used to aid in the interpretation of the genetic sequence.

As the RNA sequencing is a research test, there will be no clinical report available.

Follow up

This patient remains undiagnosed after clinical evaluation and genomic analysis.

I guess that’s that. This patient remains undiagnosed after clinical evaluation and genomic analysis.

I have a dear and brilliant and very funny friend whose very young daughter has autism.Today as I drove home from work, I listened to a really long phone message from her (dictated while she was driving) about a conversation that she’d had with one of her friends, a “fellow mom” and how exhausted they were and how this work of dealing with the systems and our children feels akin to drowning. These moms are young and the path has just begun to wind away from what they had expected, I’m sure, when they became mothers. I nodded my head while listening, recognizing, of course, the feelings. Remembering. A splashless dive, a beautiful one, right into motherhood and then coming up for air after a couple of months and getting a “diagnosis” and then treading water, treading, treading, treading, and then the fatigue, and then the drowning. My friend said that whenever she talks about these things with her mom friend, she thinks of me and how I’ve been doing this for over thirty years. How am I doing this? I can’t remember exactly what she said because the recording disappeared from my phone after I listened to it, but there was something about wondering if I always felt like I was drowning, and then she said that she thought I was no longer drowning but had learned to breathe underwater. That we all learn to breathe underwater.

I cried.

Am I disappointed about the UDN findings? I’m not really sure what I am, to tell you the truth. I just sighed, though, as I typed that out. A small intake of air and a long, audible breath out. I guess that’s what I’m doing most of the time, breathing underwater. Not drowning. Breathing underwater.

Tuesday 9:00 AM

A man standing at the bus-stop
reading the newspaper is on fire
Flames are peeking out
from beneath his collar and cuffs
His shoes have begun to melt

The woman next to him
wants to mention it to him
that he is burning
but she is drowning
Water is everywhere
in her mouth and ears
in her eyes
A stream of water runs
steadily from her blouse

Another woman stands at the bus stop
freezing to death
She tries to stand near the man
who is on fire
to try to melt the icicles
that have formed on her eyelashes
and on her nostrils
to stop her teeth long enough
from chattering to say something
to the woman who is drowning
but the woman who is freezing to death
has trouble moving
with blocks of ice on her feet

It takes the three some time
to board the bus
what with the flames
and water and ice
But when they finally climb the stairs
and take their seats
the driver doesn't even notice
that none of them has paid
because he is tortured
by visions and is wondering
if the man who got off at the last stop
was really being mauled to death
by wild dogs.

Denver Butson, from Triptych