Roller Coaster: Part 2

Results came in and they plummeted down
At uncontrollable speed
SMA will slowly steal her ways
To smile… to cough…to breathe…

“Really?” They cried. “Can nothing be done?
No drugs? No operations?
We’ll do anything, we’ll pay any price
Travel to any location.”

“I’ll refer you to a specialist in case
There’s anything left to discover.
But I’m afraid at this point my only advice
is to take her home and love her.”

A single gene that’s lost or misspelled
Is at this disease’s root.
Without it motor neurons die.
Muscles then follow suit.

They blamed themselves, and then each other,
eventually landed on fate.
With no family history they had no idea
each had this genetic trait.

Once again they read and researched
and nourished her as best they could.
Hopelessly they tried to grasp that their baby
won’t live to see childhood.

They followed the doctor’s orders
to shower their daughter with care
and they drove to see a specialist.
Silence — the whole trip there.

This neurologist came to the same result:
Their baby has SMA.
No treatment, so all they can do
is manage symptoms day by day.

“However” she said “We may have reason
to be optimistic.
It seems that an experimental drug
is about to go into clinic.”

“I was recently contacted about SMA
and this trial in specific.
She must fit criteria of age, genes, and symptoms
for the study to remain scientific.”

They learned this treatment replaces
their daughter’s missing gene.
It’s successful in cells, mice, and pigs
and everything in between!

For instance mice with SMA
Will die by 14 days.
When treated mice lived past 8 months,
Even scientists were amazed!

Suddenly, a jolt in their ride.
“Is this a miracle?”
“Slow down”, she said “effects of these drugs
can really be unpredictable.”

But now their coaster was pointing up,
so they got out to push it faster.
They rushed out the door and on the way
called their parents, bosses, and pastor.

They drove all night to exotic Ohio
which became their promised land.
These doctors tried hard to hide their excitement
As they explained the procedural plan.

“Previous trials found this to be safe,
Though it sometimes sounds scary at first.
Partly because, unlike many drugs,
gene therapy can’t be reversed.”

“In order to get the gene she needs
into each of your daughter’s cells,
we’re utilizing a mechanism that
nature developed quite well.”

“We take a very harmless virus
and gut its genetic code.
Then we put in her missing gene
for it to deliver as its load.”

“Once she’s got her replacement gene
her neurons should stop dying back.
Since the neurons tell the muscles what to do,
it may help get her strength on track.”

“There’s many things that we cannot predict,
this work is truly uncharted.
But if you’re willing to give us your trust,
we’re willing to get started.”

And so they took a leap of faith
with their most precious treasure.
Faith in science, medicine, and something divine,
far past human measure.

Doctors infused her blood with virus,
four hundred trillion at that.
With this treatment she’ll be the world’s first,
and hopefully not the last.

Swaying between excitement and terror,
the first cart on a new track.
The coaster is incredibly wobbly.
The path ahead doused in black.

And so the rest is a history
That I cannot yet be sure.
Maybe a light shines ahead for their girl
Maybe another “good try” at a cure.

I keep my eyes peeled to see how she’s doing
Looking for just a hint.
Until the trial completes in twenty-seventeen
They might not put much in print.

What they have said is the trial is ongoing
15 enrolled so far.
They’ve increased the dose. Could that mean
drug tolerance is on par?

18 months in, the latest report:
so far no “events.”
That means no death, no breathing failure,
I’m woozy from suspense!

From that, my simple math tells me,
our girl’s alive and two years old.
Now older than nine of ten SMA infants!
Every day a victory to behold.

At first I read that patient strength
Improved via wordy data sets.
But to see real baby pictures
was a moment I won’t forget.

Normally an SMA patient
would get weaker day by day.
But some of these kids’ strength is visible!
They can sit, wiggle and play!

I don’t know if this effect will last
or if there will be an unknown downside.
But this family’s venture into the unknown
Could change medicine worldwide.

Great hopes and greater possibility,
wrapped in a patient so small.
These ups and downs are life itself.
A different coaster for us all.

This work describes a clinical trial run by AveXis Inc under Identifier:NCT02122952. The author is not associated with AveXis or any clinical work and does not personally know the family stories of any of the trial patients.

More information about the trial and SMA can also be found at:

Spinal muscular atrophy facts

SMA trials news release

Cure SMA

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