Hearing the words “progressive degenerative genetic neurological disorder” is a shot to the heart. That’s exactly what I felt like had happened. I had been fatally wounded, and I hadn’t even seen the sniper. Being told by a (now, in my mind) nameless faceless doctor that my seemingly otherwise healthy ten-month old daughter was terminally ill had never even come across my radar. I had had concerns about her development, but I was there for help. For intervention. To make her better. Degenerative?
“You mean she’s going to get worse?, I asked.
“I’m sorry. She’s terminally ill.”
Terminal. What a sickening word. It was then that I was robbed of her future. Diagnosis day, DD, August 5, 2009. There were to be no first words, no crawling, walking, talking. No soccer games, first days of school. No prom, graduation, or wedding. Only certain death, most likely by the age of four years old.
How does one even begin to wrap their minds around such horror? And genetic? We caused this? Tay-Sachs disease is caused by a mutated recessive gene. Both parents must be carries of this bad gene and must both pass it along for heir child to be affected. In short, the lack of the Hexosaminidase A (HEXA) enzyme prevents every cell in the affected person’s body from ‘taking out the trash’. As waste accumulates function slows to a crawl, before shutting down completely. There is no treatment or cure. Children with Tay-Sachs disease, although they appear healthy at birth, will begin to show signs of regression by six to twelve months of age. These children will become deaf, blind, completely paralyzed, lose the ability to swallow, suffer daily seizures, and lose all cognitive abilities as well, all before the disease finally takes their life.
My husband and I were young, healthy, and already had one healthy child as well. We had no family history of Tay-Sachs or knowledge of our carrier status. Our ‘bad’ gene had been silently silently passed on, generation after generation, until we, the two carriers met, and unknowingly imparted these recessive genes on our second child. Some ethnicities have a higher prevalence of the presence of this gene mutation, but we didn’t belong to any of those. We found out, too late, that one in every 250 people in the general population carries this gene mutation, and we had just won the genetics lottery.
As of right now, prevention is the only cure. Know your family history, know your risk factors, and know your carrier status. A simple blood test would have told us from the beginning that Tay-Sachs was a possibility in our lives, but no one offered it, and we didn’t know to ask.
For more information on Tay-Sachs disease please visit the National Tay-Sachs and Allied Diseases Association at www.ntsad.org
