Meet Colton. He was born in March of 1997, and was diagnosed with tay-sachs when he was about nine months old, when his parents noticed he wasn’t growing out of small habits, and still couldn’t roll over or sit up on his own, and took to see his pediatrician.
Tay-sachs is a deadly and rare disease, it’s only hereditary, and incurable.
First off we’re going to peer into the background of tay-sachs, then we’re going to examine the most common form of the disease; classical or infantile tay-sachs, and finally we’re going to look at ways to prevent it all together.
First off, we’re going to peer into the background of the disease. Tay-sachs, is named for the two scientists, Warren Tay and Bernard Sachs. Richard Tay was a British ophthalmologist who discovered the “cherry-red spot in the retina of the eye, and Bernard Sachs, was a New York neurologist who discovered the cellular changes and noted that most babies diagnosed with it were of Jewish descent. Tay-sachs disease, is a hereditary disease, most common from those of Jewish descent, but is also found in those of French-Canadian or Cajun descent too. According to medlineplus.com, about one in every twenty-five or thirty Jews is a carrier, however about one in two hundred and fifty people throughout the entire population are carriers too. That’s how the disease if inherited; both parents have to be carriers of tay-sachs in order to have a child with it. However even if both parents are carriers, doesn’t necessarily mean that the child will be born with it. As shown in my diagram ! here, there is only a one in four chance of the child having the disease. Just because you’re a carrier however doesn’t mean that you actually have it, you’re simply able to pass it on. Tay-sachs, is caused by a hexosaminidase A, or hex-A, deficiency, or in this case the lack of it. Hex-A is an enzyme that breaks down fats, with out it, those fats start to build up in the brain causing severe damage. In most cases of tay-sachs the child is born without the hex-A enzyme causing damage to the baby’s brain before it is even born. There is no known cure for tay-sachs, inflicted children can only be made as comfortable as possible.
After peering into the background of tay-sachs, we’re going to examine the classical and form of the disease. Classical tay-sachs, is the most common form of the disease. In the beginning the baby appears to be growing normally and is healthy, except for slight motor weakness and twitches in the eye, according to bchealthguide.com. When the infant is of about four to ten months of age, the other symptoms start to show up and the baby starts to regress. Gradually they stop smiling, crawling or turning over, they lose their peripheral vision, and become easily startled, then they progressively lose the ability to swallow, and develop breathing difficulties, all these lead up to a loss of motor skills entirely. Once this happens, according to bchealthguide, the follow progresses much more rapidly; uncontrollable seizures, blindness, deftness, mental illness, paralysis, an enlarged head, and finally death at an age of anywhere from three to five years of old.
Now that we’ve peered into the background of tay-sachs, and examined the most common form it, we’re now going to look at ways to prevent it. One of the best ways to prevent a child from being born with tay-sachs, is for both partners to get a blood test to see if they’re carriers. Prenatal test are also done to the fetus, to check for the enzyme before birth. Because of these advancements in prevention the tay-sachs cases have significantly dropped in the past three years. According to about.com’s, Judaism's section, the ultra-Orthodox association, tests young couples to see if they are “genetically compatible”, if they aren’t, then they’re determined “unsuitable” and they split up.
We’ve peered into the background of tay-sachs, and learned about what it is, examined classical tay-sachs, and looked at some of the ways to prevent having a child born with the disease.
Remember Colton? Well, after surviving numerous severe cases of pneumonia, given natural medicines, going to physical therapy, and being doted on and loved intensely by his parents, he died on February fifteenth, of 2001at the age of four. His parents set up a web page on geocites.com to share his story to everyone, and to inform people of the disease that took their son from them.