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Tuberous
Sclerosis (TS) can be like having epilepsy, cancer, autism, kidney
disease, heart disease and mental disability all rolled into one.
It is a genetic disease that is variable, even in the same
family. Some
individuals may have every symptom of the disease and be very
limited in their abilities, while others may only have mild symptoms
and lead healthy and productive lives.
Living with Tuberous Sclerosis can be like walking through a
minefield, never knowing when another symptom of the disease will
appear.
Beginning
at the approximate age of three months, our daughter Sarah would
occasionally close her eyes and touch her chin to her chest.
We did not realize that these minor, infrequent movements
were seizures. At the
age of nine months we noticed an increase in the frequency of the
movements, so we took Sarah to her pediatrician and later a
neurologist. The
neurologist viewed a videotape of Sarah’s “movements” and
immediately stated she was having seizures.
He then noticed a two-inch, white, birthmark on the back of
Sarah’s thigh and stated that she might have Tuberous Sclerosis.
Magnetic Resonance Imaging (MRI) showing scattered, small
brain tumors confirmed that Sarah had TS.
Because of the wide range of symptoms, many TS cases go
unrecognized, undiagnosed or misdiagnosed.
There may be many more people with Tuberous Sclerosis than we
think. The lack of
awareness of this disease became apparent when Sarah’s
pediatrician informed us she had never heard of Tuberous Sclerosis.
The
disease is characterized by benign tumors that form on the brain,
heart, kidney, lungs, eyes and skin. In most TS cases, the tumors do
not require surgery. Because
these tumors vary in size and location, TS symptoms range from an
individual having no symptoms to having seizures, varying degrees of
mental disabilities, and/or premature death.
Sarah is a happy 2nd grader now who, so far, has had mild
symptoms. She has some
learning and behavior disabilities and has been diagnosed with
“high-functioning autism.”
Sarah is fortunate in that her seizures were first controlled
with medication and then the seizures disappeared.
She has not needed anti-seizure medication for almost five
years. Every two years,
Sarah has a complete exam to determine that tumors are not forming
in serious locations in her brain or other organs.
There
is no cure for TS. The
two genes that cause the disease have been identified and
researchers are developing a diagnostic genetic test. There is hope that ongoing research will provide more answers
and treatments for Tuberous Sclerosis.
Scientists believe that TS research may also provide answers
related to kidney cancer, breast cancer, epilepsy, autism and many
neurological disorders.
The
month of May has been designated National Tuberous Sclerosis
Awareness Month to bring greater recognition of the disease.
Additional information about Tuberous Sclerosis can be
obtained by visiting the National Tuberous Sclerosis Association (NTSA)
web site at www.ntsa.org, or by
calling (800) 225-ntsa (6872).
Other related informative web sites include The Epilepsy
Foundation at www.efa.org and the
Autism Society of America at www.autism-society.org.
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