Tay-Sachs Disease is a rare inherited gene that affects the spinal cord and kills off the nerves cells around the brain. It was named after Warren Tay and Bernard Sachs who were the first to discover this genetic disorder by a red spot on the retina of the eye and changes in the cellular structure in 1881. Children are most often affected by this disorder. Usually, symptoms don’t appear until 3 to 6 months old. Because this disorder is hereditary, anyone in the family could carry the gene. It affects a child’s inability to move.
Once this happens, death can occur which usually happens in early childhood. There are milder forms of Tay-Sachs disease that do not develop until a child reaches early or young adulthood. However, this occurrence is rare. The Hexa gene is the genetic mutation of this disorder takes places. A mutation happens when beta-hexosaminidase A, which is an enzyme, has molecule GM2 ganglioside buildup inside the nerve cells. This is what causes them to become toxic. Doctors are able to diagnose this condition through genetic testing. Family support and specialty treatments are used to treat this disease. A cure is not available and nothing can be done as of now to slow down the progression.
1. Deafness
Tay-Sachs Disease and deafness go hand in hand. That is because of the nerve damage creates loss of hearing. Although your baby may be startled by a noise in the onset of this condition, as they get older deafness will set in. Excessive noise is usually the first sign of deafness. It can be a constant ringing in the ear or “birds chirping loudly”. There’s no way to reverse the course of the damage. You could get your child hearing aids in order to cope with the loss. Surgery may be another way to solve the problem.
If there is an adult with a mild form of Tay-Sachs sign language, lip reading, printed or written words may be the best forms of communication if the hearing devices and surgery don’t work. Since Tay-Sachs disease is usually diagnosed in a child outside the womb from three to six months, it may be hard to determine when deafness will occur. It’s a symptom that parents and doctors would just have to look out for. Once deafness occurs, get treatment as soon as possible. The earlier that hearing loss is diagnosed will bring in better treatment options.
2. Progressive Blindness
Progressive blindness often occurs as a symptom of Tay-Sachs. Vision loss is caused by bilateral degeneration of the retina. There is no cure. However, if an adult is dealing with this, a guide dog, white walking stick, or Braille are used to help the individual stay independent. For children under four, the best you can do is make sure there are no obstacles in the way if your child is still mobile. Take things one day at a time. Give your baby lots of love and affection. Your child’s will to fight really do depends on it.
3. Decreased Muscle Strength
Everything in the body is tied together and function for the sake of the body. If the nerves are damaged then decreased muscle strength is not that far behind when dealing with Tay-Sachs disease. Babies tend to lose their milestones such as rolling over, sitting up, crawling and walking. They may also not be able to hold up their own head any longer. Because there is no cure for the muscle loss, it’s best to keep them on their back. Your child is paralyzed at this point and may need a wheelchair to get around.
4. Increased Startled Responses
Increased startled responses may be the first symptom that may indicate your child has Tay-Sachs disease. Your child or an adult can develop body spasms. Muscles will jerk every time an unexpected noise is heard. This is because of the trauma Tay-Sachs disease is causing on the nervous system. The human body is responding to that trauma the best way it knows how. Medications may be available to treat this but there is no cure for it as Tay-Sachs is running its course through the body. Limiting the amount of noise or decreasing it should be helpful.
5. Paralysis
This is a symptom that leaves a child helpless. They can’t walk, sit up, or utilize any of the basic functions their body should be able to do. Losing all control from paralysis means they will need special accommodations. This can be very hard on a parent because they will have to do everything that the child can’t. Once the nerve cells are damaged the sensory and motor loss can’t be avoided. Tay-Sachs has incapacitated the spinal cord, leaving the child without the ability to move.
6. Seizures
With Tay-Sachs disease affecting the nerve cells, this can lead to seizures. This is a disturbance that causes electrical impulses in the brain to leave their limits. What is normal for those electrical impulses is damaged. So seizures are happening all the time. You would have to be watchful because some seizures cause convulsions and some don’t. The child’s body is being thrown out of whack and there is no cure. However, there may be medications that help reduce the number of seizures your child has.
7. Muscular Stiffness
If decrease muscle strength was not bad enough, muscular stiffness is worse. When a child is not able to move, their muscles will become stiff. This happens in adults with Tay-Sachs. Although they develop a milder form, this is a symptom that is dealt with constantly. Sometimes it will go away on its own. Your child may be given medication to ease the pain that comes with having muscle stiffness. For an adult, an anti-inflammatory pill or ibuprofen may be given. This should help ease any discomfort or soreness that muscular stiffness brings on the body.
8. Slowed Mental Development
Slowed mental development can be seen more prevalent in children with Tay-Sachs disease. Things that they should be able to achieve at a young age such as learning the alphabet and counting numbers generally take longer to learn, or as in many cases, the child will not be able to learn them at all. At a certain age, children learn to talk, potty, and recognize shapes and animals. However, that may not happen because the genetic disorder’s progression on the body. The enzymes in the brain are becoming toxic and will not function like they should. Children may need therapy.
9. Slow Growth
Tay-Sachs Disease destroys the growth nerves that causes the body to gain in height. Because the growth rate is reduced significantly, children may not gain any real height. As a result, slow growth happens. There is nothing available to stop this from occurring. Children are affected by this the most. Around the age of 2, they may have a short stature that does not look right for their age because of spinal damage and brain toxins. Those children that live past age five are usually affected with dwarfism.
10. Red Spot On The Macula
If there is no cherry red spot on the macula that is definitely a sign of Tay-Sachs disease. When the nerve cells have a toxic buildup, they become abnormal. Vital enzymes are reduced or completely destroyed. The macula is an oval yellowish area that surrounds the fovea that is near the retina in the eye. If you do not see that spot in your child’s eye, it’s best to get help quickly. This is a serious sign that blindness is about to occur. It also signifies that a child is neurologically impaired.
