Health Beat - Winter 2017 - 12

Defying
Expectations
Child with rare genetic disorder receives
cutting-edge treatment in Salina
By Meghan Klaassen

lleyah Martin, of Salina, has
interests you would expect
from any 10-year-old girl. She
enjoys books, Barbie dolls,
watching movies, getting her nails done,
spending time outdoors and singing at
the top of her lungs to anything from
Luke Bryan to hip-hop.
"When she's loud, you know
she's doing well," says Mindy Webb,
Alleyah's mother.
Mindy and Alleyah's paths first
crossed when Alleyah was 11 months
old. Mindy was Alleyah's nurse and
eventually became her foster mother.
She adopted Alleyah by the time the
little girl turned 3.
The difference between Alleyah and
other children her age is a rare genetic
disorder called spinal muscular atrophy,
or SMA. SMA is a neuromuscular disorder in which the body fails to create
motor nerve cells in the spinal cord,
which results in missed or lost developmental milestones, muscle weakness and
trouble eating and breathing. SMA has
four classifications, from type 4 being
the least severe and manifesting itself in
adulthood to type 1 symptoms emerging
in the first few months of infancy and
often resulting in infant death. Alleyah
has type 1 SMA. She cannot speak, and
she depends on a respiratory machine for
breathing and her caretakers for feeding,
bathing and moving from one room to
the next.

srhc.com

Fortunately, a new treatment available at Salina Regional can slow the progression of the disease.

Alleyah Makes Herself Heard
Though Alleyah cannot speak, she has
found ways to manipulate the back of
her throat to respond with sounds and
intonations. She cannot move any limbs,
but minor muscle control allows for a
simple system of communication, and
she wrangles for attention just like any
other child.
"She moves her chin for 'yes' and
frowns for 'no,'" Mindy says. "And she's
ornery, she can roll her eyes. With her old
ventilator, she could set the alarms off
and get the nurses running."
A false perception of SMA patients
would be to think that their physical
disability is accompanied by mental
retardation. On the contrary, their
vision, hearing, sensory nerves and
cognition remain untouched and are
fully functional.
"They're pretty much just stuck in a
body that doesn't work," Mindy says.
Transportation and showers are the
biggest challenges. A variety of equipment is needed everywhere Alleyah
travels, often making it easier to stay
home than go out. The Webb-Martin
household is not handicapped accessible, and Alleyah is getting heavier as
she grows up, which makes it difficult
to move her in and out of the tub and

to her chair. It's also more difficult for
Alleyah herself to move what limited
muscles she can.
"She used to be able to smile, move
her fingers, move her feet more," Mindy
says. "As she got older and heavier, it's
harder for her to move her muscles."

New Hope
A new development in treatment
for patients with SMA became available in December 2016 when the
U.S. Food and Drug Administration
approved SPINRAZA.
"SPINRAZA is a little piece of DNA
that is disease-modifying. It treats the
disease," says Alleyah's pediatric neurologist, Britton Zuccarelli, M.D., of Salina
Pediatric Care. "Often these kids will
die from respiratory failure, either from
pneumonia or failure to breathe. [In trials,] SPINRAZA slowed the progression
of the disease, and time to respiratory
failure was delayed. We still don't have
a cure, per se. We can't completely
replace their genetic material, but this is
the closest thing we have."
The new treatment requires an injection into a patient's spine via lumbar
puncture. Since spine abnormalities often
accompany SMA, it can be technically
challenging to administer SPINRAZA. To
help guide injections, Zuccarelli teams
up with radiologists at Salina Regional
Health Center to use fluoroscopy, or live
X-ray guidance, to locate the injection
area and administer treatment.
SPINRAZA is administered four
times within the first 60 days and then
once every four months for the rest
of a person's life. Alleyah has received
the first four doses and has begun the

http://www.srhc.com

Table of Contents for the Digital Edition of Health Beat - Winter 2017