I was born on April 8, 2004, a beautiful 6 lb., 13 oz. baby girl. My mommy and
my daddy were so happy I was here. I lived a typical newborn life. I enjoyed sleeping, eating, and watching my big brothers Levi and Colby.
When I was 5 months old, my Daddy and Aunt Cathy noticed my left eye seemed to be lazy. This was not out of the ordinary because lazy eyes run in my family. My
mommy took me to the doctor’s for my 6-month checkup, and told the doctor that we were concerned.
The doctor recommended that we see a Pediatric Ophthalmologist. Mommy scheduled an appointment right away and we went on November 10th. To everyone’s
disbelief, the ophthalmologist found Cherry Red Spots on my retina. This was not a good sign. He sent me straight back to my Pediatrician for a physical and blood work. Daddy, Mommy,
and Grandma were told that I possibly could have Tay Sachs.
Unfortunately, one week later, that was confirmed. Tay Sachs is a really ugly disease and as of right now there is no
known cure. I will probably never talk, crawl, or walk. I love to be cuddled and carried around.
I have a very long road in front of me and I need your help. Mommy, Daddy and I are going to the National Tay Sachs Foundation’s Annual Conference in New Orleans
from April 14–17. There we will be able to learn more about this nasty disease and meet other children like me. We can not afford this additional, but necessary, expense. My medical
care will also begin to become more than we can afford.
Mommy and Daddy have set up a savings account at the Farmers and Mechanics Bank for me, so any money donated will be placed there for future expenses.
Donations may be made to:
Lacie Wivell
c/o Rick and Lisa Wivell
376 Stultz Road
Fairfield, PA 17320
What is Tay Sachs?
The Classical Form of Tay Sachs disease (TSD) is a fatal genetic disorder in children that causes progressive destruction of the central nervous system.
The disease is named for Warren Tay (1843-1927), a British ophthalmologist who in 1881 described a patient with a cherry-red spot on the retina of the eye. It is also named for
Bernard Sachs (1858-1944), a New York neurologist whose work several years later provided the first description of the cellular changes in Tay Sachs disease. Sachs also recognized
the familial nature of the disorder, and by observing numerous cases, ho noted that most babies with Tay Sachs disease were of eastern European Jewish origin.
Tay-Sachs disease is caused by the absence of a vital enzyme called hexosaminidase A (Hex-A). Without Hex-A, a fatty substance or lipid called GM2 ganglioside accumulates
abnormally in cells, especially in the nerve cells of the brain. This ongoing accumulation causes progressive damage to the cells. The destructive process begins in the fetus early
in pregnancy, although the disease is not clinically apparent until the child is several months old. By the time a child with TSD is three or four years old, the nervous system is so
badly affected that life itself cannot be supported. Even with the best of care, all children with classical TSD die early in childhood, usually by the age of five.
A baby with Tay-Sachs disease appears normal at birth and seems to develop normally until about six months of age. The first signs of TSD can vary and are evident at different
ages in affected children. Initially, development slows, there is a loss of peripheral vision, and the child exhibits an abnormal startle response. By about two years of age, most
children experience recurrent seizures and diminishing mental function. The infant gradually regresses, losing skills one by one, and is eventually unable to crawl, turn over, sit,
or reach out. Other symptoms include increasing loss of coordination, progressive inability to swallow and breathing difficulties. Eventually, the child becomes blind, mentally
retarded, paralyzed, and non-responsive to his or her environment.
To date, there is no cure or effective treatment for TSD. However, there is active research being done in many investigative laboratories in the U.S. and around the world. The
uses of enzyme replacement therapy to provide the Hex-A which is missing in babies with TSD has been explored. Although this approach is promising, scientists still face serious
obstacles. Because the disease affects brain cells which are protected by the blood-brain barrier, enzymes like Hex-A are blocked from entering the brain from the blood. Bone marrow
transplantation has also been attempted but to date has not been successful in reversing or slowing damage to the central nervous system in babies with TSD.
