As
an actor, Days of Our Lives star Matthew Ashford is used to the
pain and drama of terrible tragedies. But nothing could prepare
him for the real-life soap opera he experienced when his four-month
old daughter, Emma, was diagnosed with retinoblastoma (Rb).
"My wife, Christina, discovered this. We thought it was
a lazy eye. Our pediatrician, who also had an infant, said it was
possible. But she suggested we go to a pediatric ophthalmologist.
She said, 'No rush.'"
The Ashfords were able to get Emma an appointment at Childrens  Hospital
Los Angeles the following day. But the subsequent diagnosis was
heart-wrenching.
"We were told that Emma had six tumors
in each eye, which is common," recalls Ashford. "In the
past, I'd go to CHLA as a celebrity. This was so different."
Retinoblastoma is a malignant tumor of the retina — the light-sensitive
layer of the eye that allows us to perceive images. Rb develops
from immature retinal cells in one (unilateral) or both eyes (bilateral)
of the developing fetus, newborns, infants, and children under five.
Boys and girls have the same chance of occurrence.
There are only about 350 Rb cases each year in the USA, with about
8,000 cases reported worldwide, although precise world statistics
do not exist.
"If you take the number of kids at risk,
there are anywhere between 13 and 15 cases per million. It's not
huge, but the problem is that 90% of the births in the world are
in the developing countries," reports Dr A. Linn Murphree,
director of the Retinoblastoma Center at Childrens Hospital, Los
Angeles, who is also the Ashfords' pediatric ophthalmologist. "There
are probably as many as 19,000 cases in the developing world. It
becomes a huge World Health Organization problem."
Early detection
If untreated before it escapes the eye, Rb is fatal. But with improved
detection, less than 10% succumb to the disease.
Murphree is currently involved with a group in Belgium to educate
people in developing countries about Rb and its symptoms —
which include:
- Red, painful eye
- Poor vision
- Inflammation of
tissue surrounding eye
- An enlarged or
dilated pupil
- Crossed eyes
The average age of
diagnosis is about 13-15 months for the 40% of Rb patients with
bilateral involvement. For the 60% of Rb patients with unilateral
involvement, the average age increases to 24 months.
"The big push is to find these kids earlier," says Murphree."We
are working with the American Academy of Pediatrics to teach pediatricians
to find Rb earlier by dilating the pupils as part of well-child
care. There's a misconception of how difficult it is to put in
drops. It's very simple, especially in a baby."
Children and infants with Rb are typically diagnosed by an eye
exam called a red reflex test, in which a light is shined directly
into the eye.
"The parents usually describe the child's eye with a 'g'
word — glow, gleam, glare," says Murphree. "It's
also called leukocoria or cat's eye. You can see it momentarily
in dim light. When you turn on the light, the pupil comes down
and you don't see it."
Biopsies are often avoided to prevent the eye cancer cells from
spreading outside the eye. Instead, CAT scans, ultrasounds, and
MRIs are often used to confirm an Rb diagnosis and detail the
extent of the tumors.
"The first MRI, is a hellish situation for a parent to see
their child strapped down," says Ashford. "Some people
think hell is somewhere you go after you die. Well, it exists
right here."
Rb exacts a heavy toll not only on the children afflicted with
the disease but parents and families as well. "Eighty percent
of marriages break up," says Murphree. "It is a terrible
blow to parents that their child may lose their eye or their life.
Communication breaks down. Siblings act up because the focus is
on the sick child."
Murphree and a counselor spoke with the Ashfords about Emma's
potential eye loss and chemotherapy.
"We were basically saying goodbye to Emma's eyes because
we thought they'd be taking them out," says Ashford. "We
didn't know whether she'd live. Because it was in both eyes, she's
got it genetically in every cell of her body."
Treatment
A century ago, Rb was 100% fatal. Today, in most cases, new therapies
and treatment combinations save both eyesight and lives.
Treatments include:
- Enucleation
— Removal of the eye.
- Photocoagulation
— Using laser light to destroy blood vessels that feed
the tumor.
- Cryotherapy
— Extreme cold is applied to destroy cancer cells.
- Chemotherapy
— Drugs are
injected into the fluid that surrounds the brain and spinal
cord.
- Internal
beam radiation — Radioactive material is placed
into or near the tumor.
- External
beam radiation — Radiation is directed from
a machine outside the body.
"Chemotherapy
is a terrible way to treat a tumor," says Murphree. "It's
like killing a fly with a sledgehammer. It's so non-specific that
you are doing lots of damage. We're trying to find a way to target
only cancer cells."
Murphree pioneered chemoreduction, a combination of chemotherapy
and laser treatment that is now used worldwide.
"There's a lot of research going on regarding giving agents
like chemotherapy (locally) outside the eye, under the white of
it, so it passes and diffuses into the eye," says Murphree.
"The two eyes only account for about 1% of the mass of the
body. With chemotherapy, we're treating 99% of the body that doesn't
need it."
Emma endured chemo for four months and had 34 surgeries. Fortunately,
the Ashford's story has a happy ending.
Emma made it to three years, when the retina fully developed,
and was able to keep both her eyes. She is legally blind in the
center of her left eye, but she has peripheral vision in it.
"This is part of our lives now," says Ashford. "We'll
be monitoring Emma intensely through all the time she is growing
up.
To raise awareness and funds for families less fortunate than
themselves, the Ashfords and friends, Hunter and Michael Tylo,
formed Retinoblastoma International. The Tylo's daughter, Katya,
also had Rb.
"We called Hunter and Michael and asked what we could do
together," says Ashford. "We decided this was an opportunity
to turn this into something good. We can do something. We can
make a difference." |