Introduction

Heredity, what is it? It is defined as the passing of physical or mental characteristics from one generation to another. But, what if you passed on more then just that? What if you passed on a devastating illness that made you question whether having a baby was even worth the devastation that could potentially follow? This blog will explore a disease called Tay-Sachs Disease. A disease that is hereditary, that is, passed on from generation to generation. Because of this, many people who know they have this in there genetic makeup have no choice but to ask themselves these questions. So let's just dive in & explore this horrendous illness.

What Is It & What Are The Signs?

Tay-Sachs Disease. It is a rare illness of the neurological system. It is an illness that is devastating to parents & family alike. It is a disease that will break your heart. This disease progressively (over time) destroys nerve cells in the brain & in the spinal cord.
In the more common form of the disease, it becomes obvious in early-mid infancy usually about 3-6 months. Noticeable signs in an infant with this disease are: slowing development & muscles that are used for movement begins to weaken. They also develop what's called an exaggerated startle reaction to loud noises (unnatural reaction to loud noises). As the disease gets worse; seizures, vision loss & hearing loss become apparent, as well as intellectual disability (learning, reasoning & problem-solving also adaptive behavior), and paralysis. Most, if not all with this disorder display an abnormal characteristic of they eye, a cherry-red spot. This abnormality can be seen during an eye examination. Children with the most severe form of this disorder usually don't survive past early childhood.
Other forms of this disease are much more rare. Signs & Symptoms can appear anywhere from childhood, adolescence, or adulthood. The Symptoms are usually milder then the severe form found in infants. Noticeable features are: Muscle Weakness, Loss of Muscle Coordination (also known as Ataxia), other movement problems, speech problems & mental illness. If the onset of symptoms appear later, then the signs & symptoms may vary widely.

How Often Is It Seen?

Tay-Sachs Disease is Very rare when it comes to the general population. The specific mutation that causes this disease is most often seen in people that have the following in their ancestry: Eastern & Central European Ashkenazi Jewish. It is also more prevalent in the following communities: Certain French-Canadian communities in Quebec, The Old Order Amish Community in Pennsylvania & the Cajun population in Louisiana.

How Is It Inherited?

This Disease is considered an Autosomal Recessive Inheritance Pattern. This means that BOTH of your parents have to have the mutated (bad) gene for you to get the disease. Your parent's do NOT show symptoms, because they only have 1 bad copy of the gene. It's the child that has the disease because they have BOTH copies of the bad or mutated gene.


For more information or details on the specific genes that are effected, you can go to this site:
Tay-Sachs Disease