Brooke Megan Greenberg
(January 8, 1993 – October 24, 2013) was an American Syndrome
X patient from Reisterstown, Baltimore County, Maryland, who remained
physically and cognitively similar to a toddler, despite her increasing age.
She was about 30 inches (76 cm) tall, weighed about 16 pounds
(7.3 kg), and had an estimated mental age of nine months to one year.
Brooke's doctors termed her condition "Syndrome X".
Birth and early life
Brooke was born on January 8, 1993,
to Jewish parents Howard and Melanie Greenberg at Sinai
Hospital in Baltimore, Maryland, one month before her due date,
weighing just four pounds (1.8 kg). She was born with anterior hip
dislocation, a condition that caused her legs to be swiveled upward toward her
shoulders; it was corrected surgically. Otherwise, Brooke appeared to be a
normal infant.
In her first six years, she went through a series
of unexplained medical emergencies from which she recovered. She had
seven perforated stomach ulcers. She also suffered a seizure. This
was followed by what was later diagnosed as a stroke; weeks later, no
damage was detected. At age five, Brooke had a mass in her brain that caused
her to go into a deep sleep (after confirmation that it was not a coma)
for 14 days. The doctors diagnosed the mass as a brain tumor. She later
awoke, and physicians found no tumor present. Brooke's pediatrician, Dr.
Lawrence Pakula, states that the source of her sudden illness remains a
mystery.
During an interview on the talk show Katie,
her father stated that between the ages of four and five, she stopped growing.
Unexplained condition
Over several years, the Greenbergs visited many specialists, looking for an explanation for their daughter's strange condition, yet there was no diagnosis of any known genetic syndrome or chromosomal abnormality. In 2001, when Dateline documented Brooke, she was still the size of a six-month-old infant, weighing just 13 lb (5.9 kg) at 30 inches (76 cm) tall. The family still had no explanation. Brooke's mother Melanie said, "They [the specialists] just said she’ll catch up. Then we went to the nutritionist, the endocrinologist. We tried the growth hormone…” The growth hormone treatment had no effect. Howard, Brooke's father, said, "I mean, she did not put on an ounce, or she did not grow an inch... That’s when I knew there was a problem." After the growth hormone administration failed, the doctors, unable to diagnose a known condition, named her condition Syndrome X.
The Greenbergs made many visits to
nearby Johns Hopkins Children's Center and even took Brooke to New
York’s Mount Sinai Hospital, searching for information about their
daughter’s condition. When geneticists sequenced
Greenberg's DNA, they found that the genes associated with the premature
aging diseases were normal, unlike the mutated versions in
patients with Werner syndrome and progeria.
Medical studies
In 2006, Richard Walker, PhD in endocrine
physiology of the University Of South Florida College
Of Medicine said that Brooke's body was not developing as a coordinated unit
but as independent parts that were out of synchronization. She was never
diagnosed with any known genetic disorder or chromosomal
abnormality that would help explain why. Her telomeres seemed to be
shortening at the normal rate.
In 2009, Walker said,
"There've been very minimal changes in Brooke's brain … Various parts of
her body, rather than all being at the same stage, seem to be
disconnected." Walker noted that Brooke's brain, for example, was not much
more mature than that of a new-born infant. He estimated her mental age at
around nine months to a year old. Brooke could make gestures and recognize
sounds but could not speak. Her bones were like those of a ten-year-old, and
she still had her baby teeth, which had an estimated developmental age of about eight
years. Said Walker, "We think that Brooke's condition presents us with a
unique opportunity to understand the process of aging. ‘’Different parts of her
body are developing at different rates, as if they were not a unit but parts of
separate organisms," Walker explained. Dr. Walker did not say
whether the genes responsible for development are the same ones responsible for
aging.
Death
Brooke Greenberg died on October 24, 2013, at the
Herman and Walter Samuelson Children's Hospital at Sinai Medical Center in Baltimore (the same hospital
where she had been born in 1993). Her funeral service took place on October 27,
2013, and that same morning, she was buried at Baltimore Hebrew Cemetery -
Berrymans Lane, in Reisterstown, Maryland. The cause of her
death was bronchomalacia, a medical condition usually occurring in children,
which results in difficulty breathing due to weak cartilage in the walls of the bronchial tubes.
Comparable cases
Dr. Walker believed that
Brooke Greenberg's condition had resulted from a failure of central control
genes. He identified two more people with similar developmental issues:
Gabrielle Williams of Montana (born in 2004) and Nicky Freeman of Australia (born
in 1970), a 44-year-old man who looks like a boy.
Gabrielle Williams's
condition has since been determined to have been the result of a genetic
mutation. Nicky Freeman has been diagnosed with deformity of the pituitary
gland.
María Audenete do
Nascimento, a brazilian woman who lives in the town of Caucaia near Fortaleza in
the state of Ceará, Brazil, was once thought to have also been
suffering from a condition similar to Greenberg's. She was reportedly born in
May 1981 but stopped growing after nine months. She has been diagnosed
with severe hypothyroidism.
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