KILLER STALKS CAJUN BABIES
TAY-SACHS
"Jordy was a beautiful baby," his
mother recalls. He was a happy baby with an infectious giggle, normal in
every way. Ten toes, ten fingers, great expectations. He might have grown
up to be a great doctor some day.
Jordy learned to sit up when he
was about five months old and we were so proud of his small achievements.
We never in our wildest dreams suspected that anything was wrong with him.
Then, when he was 6 months old,
Jordy parents began to notice little things.
He could no longer sit up without
props. He didn't move much. And then he had a seizure.
Our pediatrician in Lafayette,
realizing something was wrong, sent him to Dr. Barbara Golden in Baton
Rouge. She asked us hundreds of questions and examined Jordy thoroughly.
Finally, she looked into his eyes and saw the cherry-red spot, typical of
Tay-Sachs Disease.
Gail was planning Jordy's first
birthday party when she received the news from Dr. Golden, verifying that
her son did, indeed, have Tay-Sachs.
We knew nothing about this
disease, but we took some crash courses as, month after month, we watched
Jordy lose his ability to move, while his muscles grew weaker. Finally, he
could not move at all.
Many of the Tay-Sachs babies lose
their eyesight and hearing. I don't think Jordy did, however. Even in
advanced stages of the disease, when we leave him with a nurse, big
teardrops would come out of his eyes as he realized we were leaving.
Until his death in February 1992
at age three, we had to have around-the-clock nursing care for Jordy.
In Louisiana, Tay-Sachs is known
as "the Cajun disease." Twenty-seven percent of the victims of this
disease are of French-Acadian ancestry, but it also targets descendants of
Central and Eastern European Jews.
During the past 10 years,
information about Tay-Sachs has become more available.
In 1991, the CBS News with Dan
Rather came to Jennings, to the home of Ethel Seagraves, who had nursed
Jordy McClelland for two years. There, the producers filmed a documentary
about Tay-Sachs, featuring Louisiana families. At the time, five know
cases had been identified among babies born in Iota, Lafayette, and Lake
Charles, Louisiana areas.
After this was made public, many
people of Cajun heritage came forward to tell of losing relatives in the
past from an unknown affliction that was called "Lazy Baby Disease." It is
now believed that illness was Tay-Sachs.
Tay-Sachs is named for Dr. Warren
Tay, a British ophthalmologist who discovered the cherry-red spot in the
eyes of Tay-Sachs victims, and Dr. Bernard Sachs, a New York neurologist
who recognized the familial nature of the disorder. Thus came the
realization that babies from certain ethnic backgrounds, such as Cajuns,
were particularly susceptible.
The missing Tay-Sachs gene is
thought to have been carried to Louisiana with the Acadians in the Exile
of 1755. There are indications that most of those affected by it were
descendants of the French-Acadians who lived in the East St. Lawrence
Valley of Quebec.
This stealthy, fatal disease is
caused by the absence of a vital enzyme, or protein, called Hexosamindase
A (Hex-A). Without Hex-A, a fatty substance of lipid builds up abnormally
in the cells, especially in the nerve cells of the brain. This destructive
progress begins in the fetus early in pregnancy, although it is not
clinically apparent until the child is about 6 months old.
Today, a simple blood test can
determine a person's Hex-A level. Confirmation of carrier status can also
be made by testing serum and/or white blood cells.
At-risk couples, in which both the
male and female are carriers, have a 25% chance, with each pregnancy, of
producing a child with Tay-Sachs. However, the child must inherit the gene
from both parents. If only one parent is a carrier, there is no chance of
producing a Tay-Sachs baby.
Today, there is a lot of
information about Tay-Sachs carried on the Internet. And there's also a
National Tay-Sachs Foundation, plus a Louisiana parents support group.
"When Brenton reached 6 months,"
says his mother Michelle, "we noticed he was not crawling and moving
around like most babies. My mother-in-law said, "Brenton acts the way
old-timers describe a Lazy Baby."
We took Brenton to a pediatrician
in Lafayette, who sent us to Tulane Medical Center. It was there that we
meet Dr. Schrpiro, who recognized Tay-Sachs.
For the next five years, he guided
us through our agony as Brenton began to lose mobility, lose muscle
control and have seizures. We had to have around-the-clock help for the
last three years of his life, which ended in December 1989.
During this time. the Browns also
took a crash course in Tay-Sachs, and did some checking into their
family's medical history. They learned there was a Hex-A carrier in both
sets of Brenton's grandparents. So, when Michelle and Greg married, two
carriers were united and their child was at risk.
When she was about five months
old, she was able to sit up. But she only rolled over once, and it seemed
to alarm her.
Then just before she was a year
old, she had a seizure. So we went through the doctor routine for quite
awhile before we got the diagnosis. Actually, it was an optometrist who
discovered the cherry-red spot in her eyes, typical of Tay-Sachs children.
This led the doctors in the right direction.
Kandace slowly began to lose
everything she had gained, and she died just before her third birthday.
Tay-Sachs nearly always kills
before a child is five years old. Jandy Leger of Lafayette, Louisiana was
an exception.
Bryan's Aunt was with us in New
Orleans and when the neurologist mentioned the cherry-red spot in Jandy's
eyes, she said, "I have heard that is a symptom of Tay-Sachs disease. I
sure hope that is not the case."
But it was. After Jandy was about
2 years old, she lost all her mobility and had to have constant nursing
care until her death in 1995.
Lake Charles', Louisiana first
known Tay-Sachs baby was born to David and Rene Abshire in 1986.
By the time she was 7 months, she
was able to get up on all fours and scoot around. But soon after that, we
began to notice that she did not seem to be moving as progressively as
most babies her age.
That began the nightmare of
diagnosis. We went to five different pediatricians and then were sent to
Ochsner's where Tay-Sachs was diagnosed.
Maigon did not live to see her
third birthday, but I was able to care for her myself the whole time.
After we lost her, we heard about other parents - the Browns, Legers,
McClellands and Lyles - and so I started a support group.
There is still such a strong bond
between these parents, and we're all willing to help new parents who have
a Tay-Sachs children. We push education about Tay-Sachs, because people
definitely need to know that if they are in the trouble area, there is
help out there for them.
We like to think of them as God's
Little Angels.
Then, as he got older and was
playing baseball, he's fall over his feet and try to walk on the sides of
them. Our family doctor sent him to an orthopedic surgeon in Lake Charles
who did several operations, trying to make him mobile. His case was so
severe that he's in a wheelchair today.
Two other members of our family
have lighter cases.
Charcot-Marie-Tooth (CMT) is an
inherited neurological disease which leads to the deterioration of muscles
in the feet, lower legs, hands, and/or forearms. The name is derived from
three doctors who described the disorder in the 1880.
CMT, has been called the "Cajun
Disease" because of its high incidence among those Acadian or "Cajun"
descent. However the condition is the most common form of peripheral
neuropathy, and is found worldwide, in all races and ethnic groups.
The disease was "rediscovered" in
Louisiana in the 1970's by a neurologist, Dr Carlos Garcia, who is now at
Tulane University.
Dr. Garcia began finding this
crippling disease in many families of Cajun descent. So he started getting
groups of Acadians together to trace their ancestry. A blood test was also
developed, allowing parents to learn which of their children had inherited
CMT.
The first symptom of CMT is
usually foot deformity, such as a high arch or flexed toes, which causes
difficulty in walking. Patients often find it hard to hold a foot up, and
they trip on curbs or other obstacles. They have to step higher than
normal, walk with deliberation, and usually have a gaited step.
The lower arms and hands are also
often affected. One area man details having such a severe case of CMT in
his hands that he was hardly able to use them. After several surgeries, in
which bones were straightened and tendons rerouted, he now has limited use
of his hands. The man also has a daughter and sibling with CMT.
Sadly, this disease often strikes
multiple members of the same family. And because of the great number of
families with the Acadian backgrounds in Southwest Louisiana, there is
thought to be a large number of undiagnosed cases in this area.
Today, with blood test and
thorough check of their ancestry, people at risk can be identified.
If one parent has the CMT trait,
each child stands a 50% chance of inheriting the disease. In less common
cases, a child inherits the defective gene from both parents. The parents
themselves are usually unaffected.
However, many parents of patients
have discovered they may have also had mild cases of Charcot-Marie-Tooth
which were never diagnosed. When the disease began to show up in their
children, they sought help.
While the condition is known to be
hereditary, family histories vary. One Lake Charles, Louisiana woman with
CMT says that her family has checked back with cousins, aunts, uncles, and
extended relatives, and found nearly 75 family members who are afflicted
with the disease. In another family, the only discovered ancestor thought
to have been affected by CMT was a grandfather who "could not wind his
pocket watch because of clumsy fingers." His family assumed he had
arthritis.
Dr. James R. Lupski, a
pediatrician and medical geneticist in Houston who has done extensive work
with CMT, has compelling personal interest. He, too, has CMT.
"Three of my siblings also have
the disease," says Dr. Lupski, "yet neither of my parents had it. My older
brother was first diagnosed as having muscular dystrophy. Eventually, he
was referred to an orthopedic surgeon who suspected CMT.
My own symptoms appeared when I
was in high school. My feet became so misshapen that putting on shoes
became pure torture and I sprained my ankles constantly. When I was 15, I
underwent the first of eleven surgeries to fuse ankles and transfer
tendons that enable me to walk less painfully.
We've learned more about CMT in
the past 7 years than in the previous 100 years. Still, I would say we're
only at 5 on a scale of 10, in understanding this disorder.
Dr. Garcia reports that up to 60%
of the 314 patients currently enrolled in a muscular dystrophy clinic in
Lafayette are believed to have CMT. No figures were available for the Lake
Charles area.
Children's Special Health Services
in the Lake Charles, Louisiana Health Unit has doctors with the expertise
in this disease, who come to Lake Charles on a regular basis to see CMT
patients. They also offer information on how to live with the disorder,
since there is no known cure for it.
Even though there is no cure,
expert treatment is available for those diagnosed with CMT. Physical
therapy to maintain muscle strength, as well as leg braces and custom-made
shoes can help improve quality of life for many patients, and in some
cases, symptoms of the condition can be corrected with orthopedic surgery.
Those who are diagnosed early can also plan career choices which do not
require overuse of hands and feet.
Although Southwest Louisiana does
not have an accurate case count of this "Cajun Disease," more and more of
the region's neurologists and orthopedic surgeons are becoming
knowledgeable in this field. They are now able to offer better help to
their patients.
These
two articles was found in "LAGNIAPPE" Something Extra For Southwest
Louisiana, and written by Nola Mae Ross.
Cajun Don typed these two articles
from "LAGNIAPPE," to inform other Cajuns about these diseases. I have not
heard of these diseases before, and I'm sure there are other Cajuns who
have not heard of them also.
Powered by Suggest-Site
Jordan "Jordy"
McClelland was born on May 17, 1988 to Kurt and Gail McClelland of Itoa,
Louisiana.
Brenton Brown, a beautiful,
blue-eyed baby boy, was born in August 1984 to Michelle and Greg Brown of
Itoa, Louisiana.
In 1993, a young Lake
Charles, Louisiana couple with the "un-Cajun" names of Terry and Penny
(cole) Lyles had a little angel whom they named Kandace Brooke. Penny
Lyles says Kandace was a beautiful baby and seemed normal.
Born on 1987 to Bryan and
Gina Leger, Jandy lived until just after she turned 8 years old. Her
mother, Gina, recalls, Jandy was slow to crawl and sit up, but she was
able to turn over. Then, all of a sudden, she stopped turning over and
lost her ability to hold a bottle and move well. A pediatrician sent us to
a neurologist in New Orleans, Louisiana.
"We had no idea what we
were facing when Maigon was born," recalls Rene Abshire.
All of these Tay-Sachs
babies had such typical characteristics. They were beautiful babies, with
porcelain-doll faces, long eye lashes and angelic smiles.
This is my adopted guardian angel
Precious.
Adopt your own guardian angel and help stop child
abuse.
Click on Precious above to adopt one.
This poem was sent to me by Dee,
a very caring lady.
CHARCOT-MARIE-TOOTH
THE CAJUN CRIPPLER
Suggest my site to a friend!
Please visit this very
wonderful site.
Music playing "Precious Memories" by Harry Todd
