About Tay-Sachs Disease

by Brittany Kemp

Geisinger Commonwealth School of Medicine

Master of Biomedical Sciences 2022

December 2021

Newborns are, in my eyes, one of the most beautiful gifts in life. When each of my cousins were born, I enjoyed watching as they navigated life and grew their own little personalities. As my cousin Grayson was nearing his first birthday, we all noticed that he was not developing as quickly as would be expected. We waited for his first words to come, and they never did. We waited for him to crawl in the funny way his older brother did, and that day never came. Finally, we waited for him to walk, but knew that day would never come. In June of 2015, my family was told the words no parent or family ever wants to hear “Grayson has a terminal illness”. At 14 months-old Grayson was diagnosed with a rare illness called Tay-Sachs disease which unfortunately has no cure. In the years of his life that followed, his condition progressively worsened. He went from being a normal-looking baby, to a toddler who was clearly very sick. Although this disease in its infantile form typically results in children passing before their third birthday, Grayson fought until his passing several months before his sixth birthday.

During Grayson’s short life, his parents sought out clinical trials in an attempt to give him the most comfortable life possible. The lack of available clinical trials shocked and saddened all of us. One reason for the few available clinical trials and lack of treatments is the low prevalence of this disease in the general population. In order for a child to be diagnosed with Tay-Sachs disease, both parents must be carriers for the disease and pass it onto their child. In the case of my family and others, when both parents are carriers, each child would have a 25% chance of being born with Tay-Sachs disease. Many parents are unaware that they are carriers since Tay-Sachs disease is not commonly screened for when performing genetic testing.

In addition to the infantile form, there are two other forms of Tay-Sachs disease, juvenile and late-onset, in which individuals begin showing symptoms in either their toddler or young adult years. One of the most devastating parts of this disease is that individuals and families are typically unaware that a child is affected until their body functions begin to decline. One man with late-onset Tay-Sachs disease was able to have his symptoms diagnosed early and treated with a cell transplant from his sibling.(1) Several versions of this therapy have been tested for all forms of Tay-Sachs disease in animals and human cells with varied success.  

Although Grayson was only able to live a short life, it was not in vain. Allowing the general population to learn more about Tay-Sachs disease is an important step to increased screening. Identifying parents as carriers prior to having children could prevent families from feeling the pain my family has felt. In the future, I hope that a cure is found for Tay-Sachs disease. Until then, I hope to continue sharing information about Tay-Sachs disease so that no family ever feels alone when faced with their child being born with a rare disease.

 

References

1.Stepien KM, Lum SH, Wraith JE, Hendriksz CJ, Church HJ, Priestman D, et al. Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease. JIMD Reports, 2017;41.