QUEENS INFANT CELEBRATES MILESTONE BIRTHDAY
AMID STRUGGLE WITH RARE GENETIC DISEASE
BY JASMINE PALMA
From social and physical
cues, parents can track the
developmental milestones
their kids pass following their
birth. From a baby’s first incoherent
gurgle to its fleeting
yet determined attempt
at their first steps, each parent
earnestly witnesses the
achievement stages their child
undergoes in the transition
into toddlerhood. What many
parents do not anticipate is
failing to see these milestones
take place.
Lucy Gilio of Queens was
born Aug. 16 of last year.
Barring a lack of expected
frequent and energetic kicking,
Lucy did not exhibit any
worrying indications of any
health complications.
“At birth, she received the
typical tests and checkups
at the hospital, such as an
APGAR score and a physical
performed by a pediatrician.
There were no remarks or
concerns regarding Lucy’s
health,” Ashley Gilio, Lucy’s
mother, recalled.
Eleven days following
her birth, Lucy’s pediatrician
relayed surprising news
— screening test results
indicated that Lucy was afflicted
with spinal muscular
atrophy (SMA) type 1, a
neuromuscular disease that
is progeny of a rare genetic
mutation with a grim prognosis
of death before a baby’s
second birthday.
Had Lucy not been
screened at such an early
period in her life, Gilio said,
even by a mere difference of a
few months, the disease could
have progressed rampantly
and could have claimed Lucy’s
life.
“When it comes to SMA,
time is everything,” Gilio
said.
SMA1 — one of the most
aggressive forms of the disease
— quickly deteriorates
motor neurons in the brain,
consequently leading babies
to lose conviction over the
mobility of their limbs, grow
increasingly weak, and eventually
lose the ability to autonomously
swallow, chew,
and ultimately breathe.
When the body lacks the
surviving motor neuron 1
(SMN1) gene, it relies on the
SMN2 genes to pick up the
slack, but these genes only
compensate for a meager 10
percent of the SMN protein
production in comparison
to the SMN1 gene which
leads to the aforementioned
complications.
Left untreated, this disease
can cause death from chronic
respiratory insufficiency or
make the need for feeding
support and permanent ventilation
by the age of 2 in more
than 90% of cases.
Despite being largely unheard
of, SMA is estimated
to affect 10,000 to 25,000 children
and adults in the United
States alone, according to the
SMA Foundation. The National
Human Genome Research
Institute reported that one in
6,000 to one in 10,000 children
are born with SMA. In an oxymoronic
manner, this makes
SMA one of the most common
rare diseases.
According to Cure SMA,
SMA is inherited in an autosomal
recessive pattern
in families. In other words,
a baby diagnosed with SMA
inherited two mutated nonfunctioning
renditions of the
surviving motor neuron 1
(SMN1) gene from each parent.
A DNA test can detect
carriers of SMA and other genetic
diseases.
The American College
of Obstetricians and Gynecologists
states that approximately
one in 40 to one in 60
people are carriers of SMA. If
both parents are carriers of
the disease, there is a 50 percent
chance a child will be a
TIMESLEDGER | QNS.20 COM | SEPT. 25-OCT. 1, 2020
carrier, a 25 percent chance
of procreating a child with
SMA, and a remaining 25 percent
chance that the child will
not be affected.
When Lucy’s neurologist
gave Lucy’s parents the rundown
of SMA1 and the unfavorable
statistics, Gilio was
shocked at the severity of the
disease. Despite the bleak
prognosis, she and her husband
continued to pursue
treatment with Lucy’s care
team as well as conducting
their own research to adequately
make informed decisions
regarding Lucy’s treatment
options.
The Gilio’s said they had
the unwavering support from
family and friends and that
they received advice and information
from organizations
such as Cure SMA and SMA
parent and caregiver Facebook
groups.
“Seeing what other families
are going through, how
they are making their treatment
decisions and the spirit
with which they celebrate
their children reaching new
milestones have brought my
husband and I a lot of comfort
and hope,” she said.
When it came time to decide
on a treatment plan, the Gilio
family decided on Zolgensma,
a one-time gene therapy treatment
option via intravenous
insertion for children under
two years old approved by the
Food and Drug Administration
(FDA) in 2019.
The drug works by targeting
the genetic origin of the
disease and replacing the nonworking
or missing SMN1
gene. To learn more about
SMA and Zolgensma, visit the
Zolgensma website here.
“We decided on Zolgensma
because it is a one-time-only
infusion that has been seeing
promising results,” Gilio said.
“At the time, my husband and
I were noticing the positive
conversations taking place in
our Facebook groups around
Zolgensma, and that it seemed
to be helping SMA kids without
too many adverse effects.”
Following her treatment,
Lucy can now be found saying
words like “peekaboo,”
and has adopted the childish
inquisition and curiosity
seen in many 1-year-olds,
asking questions about her
surroundings such as “what’s
that?”
“She is one happy baby —
we’ll often catch her waving,
dancing, and crawling across
the floor. She is now beginning
to stand with assistance
and cruise along the furniture,”
Ashley said. “Many
of these milestones she is
reaching today would’ve been
unimaginable, given the progressive
nature of SMA, had
she not received treatment.
As the one-year anniversary
of Lucy’s treatment day approaches,
Photos courtesy of Ashley Gilio
we’re thrilled that
she is achieving these ageappropriate
milestones. ”
For parents whose children
are diagnosed with SMA,
Gilio encourages them to seek
emotional support and all the
resources available to them.
“With SMA being a rare
disease, it’s important to have
a community to lean on at
every stage of your family’s
SMA journey,” she said. “As
part of that journey, it’s also
important to celebrate new
milestones that your child
has reached or is working
on, no matter how small they
seem—each one leads to big
memories and even bigger
possibilities for your child’s
future.”
With August being SMA
Awareness Month and September
being Newborn Screening
Awareness Month in the United
States, Gilio would like “to
reiterate the potentially monumental
benefit that testing
for SMA as part of the routine
newborn screening panel can
bring to affected children and
their families.”
New York is one of the 32
states that test for SMA with
a routine newborn screening
panel, and she hopes that Lucy’s
story along with those of
other children who reside in
states that offer screening will
galvanize the 18 states that remain
to implement screening
to “quickly follow suit.”