I would like to speak of a rare, inherited genetic disease that claimed the short lives of my two beautiful nieces, it is called
Tay-Sachs disease. Tay-Sachs disease affects the central nervous system and is caused by not having enough or any of the enzyme called hexosaminidase A (HEX A). Within the lymosomes of our cells we are supposed to have HEX A. These special girls lacked that. HEX A is a protein that is necessary for breaking down GM2 gangliosides in nerve cells. Without HEX A they couldn't break down fatty substances in cells causing these fatty substances to build up and become toxic, slowly destroying brain cells until their nervous system stopped working.
 |
| Carlie (3/4/99-4/9/04) |
|
My oldest niece was born what appeared to be a normal healthy little girl. At about 10 months old she started to experience what seemed to be a lazy eye and was taken to the optometrist. The optometrist found an abnormality called a cherry-red spot inside her eye. Cherry -red spots is a characteristic for
Tay-Sachs disease. Carlie was diagnosed at 10 months old. After months of genetic testing they found that her mother and father were both carriers of the mutated gene. 1 in 300 people are carriers and 1 in 320,000 newborns are diagnosed in the United States. As Carlie got older her nerve cells became larger from the pressure of the fatty substances and mental and physical abilities became limited. At one point she was able to sit, crawl, and play like any other healthy child. Soon after her muscles began to stiffen, she was unable to swallow, her eyes drifted, she was startled easily, and she began to have seizures. Eventually as time went on she had no control over her body and became paralized. She had to have a feeding tube so she was able to get the proper nutrients and medicines she needed. Sadly heaven gained this beautiful angel at the young age of 5.
Symptoms
- Deafness
- Decreased eye contact
- Blindness
- Decreased muscle tone (loss of muscle strength)
- Delayed mental & social skills
- Dementia
- Increased startle reaction
- Irritability
- Loss of motor skills
- Paralysis or loss of muscle function
- Seizures
- Slow growth
After suffering the loss of this beautiful angel, her parents were told when they went through the genetic testing that their chance of having another child with Tay-Sachs would be 25%. They decided to try again and she became pregnant. After conception about 5 weeks into the pregnancy testing began. Amniocentesis and chorionic villus sampling (CVS) were the names of the tests to be performed and this had to be repeated again at 13 weeks. Both times the test results came back inconclusive. On October 8, 2006 they gave birth to yet another beautiful little girl, Jasmine.
 |
| Jasmine (10/8/06-7/3/10) |
At one day old blood was drawn and results indicated she too had the rare genetic disease, Tay-Sachs. Although her life was shorter than her sisters, she experienced the same exact symptoms as Carlie. She went to join her sister at just 3 1/2 years old.
The
March of Dimes is a great organization for researching genetic diseases and offering support any way they can to families that suffer a loss or are pregnant. Please consider donating to the cause.
References
I'm so sorry for your losses! I've heard of both Tay-Sachs and the March of Dimes before, but I have never been clear on what exactly the disease is. Thank you for laying this information out in a clear, understandable way. It's crazy how the absence of one enzyme can alter and affect one's life so greatly. Hopefully in the future, genetic testing done on fetus' can be improved so that results either come back positive or negative instead of being inconclusive.
ReplyDeleteI'm so sorry for your losses! I've heard of both Tay-Sachs and the March of Dimes before, but I have never been clear on what exactly the disease is. Thank you for laying this information out in a clear, understandable way. It's crazy how the absence of one enzyme can alter and affect one's life so greatly. Hopefully in the future, genetic testing done on fetus' can be improved so that results either come back positive or negative instead of being inconclusive.
ReplyDeleteThe article is about a person who speaks about an inherited disease called Tay-Sacks, which claimed the lives of his nieces. The speaker highlights the cause of Tay-Sachs disease as a lack of enough HEX A enzymes within the lysosomes of the cells leading to the buildup of toxic levels of fatty substances because the body is unable to break them down. The person narrates the story of parents who lost their first daughter to the rare disease and the struggles that the fists child went through before her ultimate death. The parents tried to have another baby only for the second child to be diagnosed with the inherited condition. The speaker lists the symptoms of Tay-Sachs disease and urges people to donate to an organization called March of Dimes, which is responsible for conducting research on genetic diseases and supporting families with associated conditions.
ReplyDeleteThis comment has been removed by a blog administrator.
ReplyDeleteThis comment has been removed by a blog administrator.
ReplyDelete