The milestones in the life of 2-year-old
Elizabeth Morgan Saville differ from most girls her age:
There’s the purchase of her first wheelchair. The trip in the
ambulance after she stopped breathing and turned blue on an
Outer Banks trip. The night of a fund raiser last fall that
gathered thousands of dollars to help find a treatment that
could help the Virginia Beach girl live longer.
Morgan has blond hair, blue eyes, a winsome smile and
a genetic disorder called spinal muscular atrophy. The condition
causes nerve cells in her spinal cord and brain stem to
degenerate. That, in turn, leads to muscle weakness.
For her first eight months, she looked perfectly normal. Then
she started showing signs of the disease. She had a hard time
sitting up. Her limbs turned floppy. When other children her age
were crawling and toddling, she wasn’t. Just lifting a sippy cup
was a chore.
To understand why the disease steals lives early, imagine all
the things muscles are used for: Coughing. Swallowing.
Morgan will turn 3 in October, and her
parents, Stacy and Bill Saville, hope her next milestone will be
enrollment in clinical trials of medications that could stave
off further erosion of her muscles. The trials – called Project
Cure SMA – test two medications, valproic acid and carnitine, on
children 2 to 17 years old with SMA.
It’s not a cure, but researchers hope it can stabilize and
even strengthen some children, to buy them time until more
effective treatments – say, stem cell or gene therapy solutions
– are discovered.
One in 6,000 children is born with SMA, the leading
genetic killer of babies and toddlers. There are different types
of the disease, the worst of which can cause children to die
within a few years. Morgan has a less severe Type II of the
disease. These children sometimes live into adulthood, but some
die sooner when weak chest and respiratory muscles lose the
battle of fighting infections.
As soon as Stacy found out her daughter had the disorder, she
recast her life. She abandoned plans to return to her accounting
profession and instead threw herself into advocacy groups to
help find cures for the disease. She founded a local Fight SMA
chapter called “Morgan’s Buddies” to raise money for research.
She got involved with SMA Support Inc., which helps families
across the country with education, support, equipment and
On Aug. 19 to 21, about 30 families of SMA children will
convene for a national “Family Gathering” in Virginia Beach that
Stacy helped organize. Because a small number of children in any
given area have SMA, families rely on a national network of
families for support and education.
“So much of this is trial and error,” Stacy said.
The families also track the latest research. Children with
SMA have a malfunctioning gene. Normally, that gene produces
proteins necessary for the development of motor neurons, which
power muscles for activities such as crawling, walking,
swallowing. Researchers are trying to figure out how to increase
production of those proteins.
Right now, Project Cure SMA, which began at the University of
Utah under the approval of the federal Food and Drug
Administration, is generating a lot of discussion among SMA
Morgan is on the list of children who meet the criteria for
the second phase of the clinical trial, so her parents are
eagerly awaiting news of whether she will be one of the children
who will participate at six sites in the U.S. and Canada .
Children started being selected in July, and the site the
Savilles chose – in Detroit – is scheduled to make selections as
soon as next week.
The first phase of the trial, which tested safety, has
already been conducted, according to Connie Garland, a genetic
assistant at Indiana University who is helping to link the
study’s researchers with SMA subjects.
The second phase will focus on effectiveness.
Some, but not all of the children showed improvements during
the first phase. Generally, the younger children did better,
because the disease had not progressed as far.
Because Morgan is only 2, the Savilles believe the treatment
will help her.
In the meantime, Stacy directs a mini-boot camp of
sorts for Morgan in their Lake Smith Terrace home, using
thousands of dollars’ worth of equipment to keep Morgan’s
muscles limber and toned.
A machine helps her to cough. A special vest – Morgan calls
it the “shake and bake” – vibrates her chest to force air out of
her lungs. Morgan can’t walk, but she stands in an apparatus
that puts her in a standing position for two hours a day. Stacy
hopes to work up to three.
A physical therapist and an occupational therapist come once
a week, giving Stacy exercises to do every day with Morgan to
work her muscles. Morgan also does exercises in a pool for an
hour and a half a day.
It’s not easy for Stacy to be coach to her own 2-year-old.
She wonders whether Morgan ever feels like she’s picking on her.
But she keeps on.
“I just want to do the right thing for her,” Stacy said. “I
have tried to keep her flexible, keep her hips stretched out. I
am constantly trying to figure out what I should be doing.”
When Morgan got tired of counting up to 10 doing her
repetitive exercises, Stacy switched to Spanish. Now the little
girl knows her numbers in both languages.
Recently Stacy enlisted Morgan’s 3-year-old brother, Clayton,
to help her with Morgan’s exercises to keep the experience
Morgan’s cognitive and verbal skills, meanwhile, surge ahead.
They are right on track, even ahead of most children her age.
She enjoys playing with her brothers, Clayton and 12-year-old
Zeke, reading books and being outside.
She laughs and smiles a lot.
She’s getting old enough, though, to know she is different.
Her two older brothers like playing basketball, and Morgan wants
to play, too.
One day when the family was out playing, Stacy called to her,
“Come on over, Morgan.”
Morgan couldn’t get the joystick on her wheelchair to work,
because her arm muscles are weak.
“I can’t,” she called back.
The two-word sentence still sticks in Stacy’s mind.
Stacy still hopes that her daughter will someday walk,
though she knows it’s a long shot.
If the experimental medications can just slow progression of
the disease, help Morgan cough stronger, talk louder, breathe
easier, Stacy will be happy.
“Even an ounce of strength would be better, ” she said.
Some of the children in the study will initially not receive
the real medication. However, later in the two-year study, all
the children will get the combination of drugs.
If Morgan is chosen, she will need to go to Detroit every two
or three months, for several days.
Morgan sat on her mother’s lap as Stacy talked about the
trials, interrupting at one point to softly say, “That chair.”
“Which chair?” Stacy asked.
“Which chair are you talking about. This one?”
Stacy pointed to the one next to her.
She wanted to sit on her own instead of her mother’s lap.
So Stacy sat her in the chair. A few minutes later, Morgan
teetered to the side, and Stacy sat her back up, like a doll.
She wants her independence, Stacy noted.
That’s one milestone that’s right on time.
Reach Elizabeth Simpson at (757) 446-2635 or