My daughter, Sarah Clotilde, would have been eight years old on Christmas Day had she survived. She was born seemingly healthy, weighing a hefty 10 pounds, 9 ounces. She had huge brown eyes and lots of curly black hair. She came into the world, screaming her head off, her color was excellent, and she burst with health.
Little did we know of the medical nightmare that would soon unfold, a nightmare that set our world spinning wildly out of control.
It was during one of her "well-baby" checkups when her pediatrician, Dr. Tang, suspected was going on. He found a buildup of toxic material in her brain after she had some bloodwork and an MRI. He suspected that something genetic was going on with our daughter; he suggested that we see a geneticist--and the sooner, the better, he told us.
Dr. Tang asked us if we were Jewish. "With a name like Broussard?" I laughingly told him. "I think not."He then said that this disease known to strike people of Jewish (Eastern European) ancestry also struck people of Acadian-French background. The disease was known as Tay-Sachs (pronounced "Tay-Sacks"); it was, as he explained it to us, an autosomal recessive chromosome disorder resulting in deficiency of one specific enzyme whose production is controlled by a gene in the fifteenth chromosome.
Normally the enzyme controlled toxic buildup from nerve cells in the brain. In Tay-Sachs, this enzyme is found to be defective, leading to toxic buildup in the brain, eventually leading to developmental/motor delays and ultimately death by the age of five years.
There is no known treatment for Tay-Sachs.
In order for a child to have Tay-Sachs, both parents have to have the gene that is defective; the defective gene doesn't affect the parents, but it is cruelly passed on to their children.
It is passed along to future generations.
After hearing all of this scary information, buth Michot and I cried. We didn't expect to find out that we both carried the gene for Tay-Sachs disease that would affect our daughter. She would become increasingly disabled and would, more than likely, be dead by the age of five.
It was very upsetting to say the least.
When she was ten months old, Sarah started exhibiting the first subtile signs of the disease. The symptoms grew worse as more of them manifested themselves. It was terrifying to watch. She lost her ability to move and talk. She became more and more like the newborn baby she once was. In addition, she began losing her vision and hearing.
By the age of there, Sarah was placed on tube feedings and got her first wheelchair. It was devastating, not only to us, but to her loving extended family, who didn't understand the ramifications of this insidious disease.
At the age of four, Sarah's health took a nosedive. She became bedridden, unable to move at all, not knowing who she was or where she was. Basically, she was a human vegetable, requiring 24-hour medical care. Most people did not know that she had once been a bright-eyed, laughing baby girl before Tay-Sachs reared its ugly head, robbing her of everything. They did not know she was born healthy.
On Christmas Day (what would have been her fifth birthday), Sarah died peacefully in her sleep. Her long journey was over. We were devastated, yet as time went on, we learned of the joy, the courage our daughter showed. We consider her to be a blessing in disquise because she brought our family closer together. She also taught the world about Tay-Sachs and made people want to help those affected by it.
We are reaching out in faith, gleaning all the information we can about this genetic mystery. We are not going to have another child, due to the risk of Tay-Sachs being passed on to him (or her) or to future generations. We are instead considering adopting a child with special needs.
