This is an extremely rare disease. It is so rare that even the rare cystic fibrosis, which I am unfortunately very familiar with, is considered much more widespread. Sadly enough, Tay Sachs also claims the life of its victim sooner, approximately at the age of 4 or 5. My daughter is three and a half years old, so this hits home.
We all owe a debt of gratitude to those who worked with Tay Sachs disease because they were the first to discover a simple blood test that could quickly and inexpensively detect the disease on a wide-scale. It therefore became the model for how other diseases in the spectrum could be detected using blood screening. Again, I find myself in awe as Samantha was diagnosed, not by her symptoms, but by a blood test.
Because it is so rare, Tay-Sachs, especially in the Cajun population of North America, has been traced back to an original founder family, a term used to denote the original carrier in a given population. This was fascinating to me as it showed how a disease can travel based on reproduction. You can find out more on that by going to Wikipedia, my favorite online encyclopedia.
There is no cure for TSD. However, because of the widespread availability of the test that detects the trait, occurrences of the disease, which were already rare, are down 90% in the Ashkenazi Jewish population. In fact, it might be possible, through screening, to essentially eliminate the disease altogether, although as a recessive trait, it will be hard to detect every single carrier.
Unfortunately, abortion at times becomes a way to eliminate the spread of this genetic disease, as couples who find that they both have the trait terminate a pregnancy if the fetus (at ten weeks) is discovered to have the disease. It doesn't matter how I feel about this since TSD isn't the disease that directly affects my family. It still hurts to think that a couple might abort their child for this reason. I know that Sam is undoubtedly going to face a transplant someday for her diseased lungs, and that she will, according to the law of averages, die before I do. And furthermore, I know that I am not in the shoes of someone who knows that they are about to have a baby affected by TSD. I accept all of that. Yet abortion, no matter the circumstances, presents me with a devastating ethical problem. It is not the goal of this blog to deal with the ethical issues such as this, so I'll move on.
I will always be eternally grateful for the advances in medicine that researching this disease gave us...they helped us immensely by breaking ground on blood testing. Were it not for those researching TSD, we might have had to wait painfully while doctors worked to discover what was causing Samantha's problems.
There are some options to help cure TSD in the works, which would theoretically rid us of the problem for good. Of those, the one that most fascinates me, because it is the theory cystic fibrosis researchers are striving to prove for the disease affecting my daughter, is gene therapy. I love the thought of this breakthrough and pray for it.
With gene therapy, researchers are essentially trying to find a way to “replace” the bad genes with good ones. Since the spectrum of diseases in question are all recessive, only one gene would need to be replaced in order to correct the problem. Unfortunately, gene therapy for any of the diseases in our SKP series are years away. Yet we hope and pray that it comes to pass.
I found this blog about a little girl with Tay-Sachs. It really is a disheartening disease, so don't read if you're not ready. If you want to be involved in the fight against Tay Sachs Disease, please visit the Cure Tay-Sachs Foundation today!