Rett Syndrome sufferers need
February 20, 2007
On Feb. 10, 2007, Gov. Jon S.
Corzine ceremonially signed the Rett Syndrome Awareness Day at the
Child Health Institute (UMDNJ) in New Brunswick. There were more
than 50 families with their children affected by Rett Syndrome.
I was privileged to introduce AJR
104 -- a joint resolution that designates the third Tuesday in
October of each year as "Rett Syndrome Awareness Day," and requests
the governor to issue a proclamation calling upon public officials
and the citizens of this state to observe this day with appropriate
activities and programs. I did not know much about Rett Syndrome
until I was approached by Rett families. I learned more about Rett
Syndrome by doing research about it.
Rett Syndrome is a neurological
disorder caused by a change in the MECP2 gene on the X chromosome
which strikes mainly little girls, stealing their voices, hand use,
health, and smiles as they face seizures, scoliosis,
gastrointestinal problems, hyperventilation, teeth-grinding, the
inability to walk, and to carry out motor movements. The brain tells
the body what to do, but the body cannot respond. These problems
never go away, and as time goes on, they become worse, not better.
The girls and women living with Rett Syndrome need help with every
aspect of daily living because they face problems with
In 1966, an Austrian physician, Dr.
Andreas Rett, identified the disorder. It was generally recognized
in 1983. Rett syndrome varies from child to child, including the age
of onset and the severity of symptoms. Before the symptoms begin,
however, the child appears to grow and develop normally. Then,
gradually, mental and physical symptoms appear. As the syndrome
progresses, the child loses use of her hands and the ability to
speak. Other early symptoms may include problems -- crawling or
walking and diminished eye contact.
Although Rett syndrome is a genetic
disorder -- resulting from a faulty gene(s) -- less than 1 percent
of the recorded cases are inherited or passed from one generation to
the next. Rett syndrome affects one in every 10,000 to 15,000 live
female births. It occurs in all racial and ethnic groups worldwide.
Prenatal testing is available for families with an affected daughter
who has an identified gene mutation. The disorder occurs
spontaneously in most affected individuals. However, the risk of a
family having a second child with the disorder is less than 1
percent. Boys have no protection from the harmful effects of the
disorder, and mutations in the gene can cause mental retardation in
boys. Boys with the disorder often die shortly after birth.
There are four stages of Rett
Stage 1. Six to 18 months of age.
Begins and lasts for a few months, but can persist for more than a
Stage 2. Ages 1 and 4. May last for
weeks or months. Slowing of head growth is usually noticed during
Stage 3. Ages 2 and 10. Can last
for years, but, many girls remain in this stage for most of their
Stage 4. Late motor deterioration.
Can last for years or decades as characterized by reduced mobility.
By consulting a pediatric
neurologist or developmental pediatrician, one can confirm the
clinical diagnosis of Rett syndrome. Since there is no cure for Rett
syndrome, the treatment for the disorder is symptomatic. Medication
may be needed for breathing irregularities and motor difficulties,
and antiepileptic drugs may be used to control seizures. There
should be a regular monitoring for scoliosis and possible heart
abnormalities. Occupational therapy, physiotherapy and hydrotherapy
may prolong mobility.
Some children may require special
equipment and aids such as braces to arrest scoliosis, splints to
modify hand movements and nutritional programs to help them maintain
adequate weight. In some cases, special academic, social, vocational
and support services may be required.
On Dec. 14, 2006, when it was
finally voted on in the New Jersey Assembly in the presence of a few
"Rett" families in the Assembly gallery, one of those present was a
little girl named Abigail Genzlinger who previously testified before
the Assembly Health and Senior Citizens committee.
She said, "My name is Abby
Gebzlinger. I am 9 years old, and I have Rett Syndrome. Girls like
me who have Rett Syndrome are unable to speak. We must talk with our
eyes. Sometimes, I use fancy equipment like my talker, but mostly,
we depend on other people to speak for us. My parents speak for me
at home and in the community. My one-on-one assistant, Miss Trish,
is my voice and my hands when I am at school.
The International Rett Syndrome
Association speaks for girls all over the world. But even with all
those voices, most people do not know about Rett Syndrome. So now, I
am asking you to be my voice. Will you please help to raise
awareness about Rett Syndrome? Because if more people know about
Rett Syndrome, then more people will understand me -- even if I
don't have my own voice."
Through this resolution, I would
like to be one of the voices for Abigail and many other children and
adults suffering from this disease.
We must find ways to improve
treatment and care for all with Rett Syndrome today, while
advocating for a cure.
Assemblyman Upendra J. Chivukula,
D-Franklin, represents the 17th Legislative District and serves as
chairman of the Assembly Committee on Telecommunications and
Utilities and as a member of the Assembly Committee on Commerce and