I just got back from the doctor’s office, and they found a spot in the macula of my son’s eye. They said he might have Tay Sachs disease! I did some research and found out some of the symptoms: deafness, blindness, seizures, loss of motor skills, irritability, trouble swallowing, and decreased muscle tone. He also said that my son will die at a very young age. Oh, my poor baby!
I talked to his doctor about treatment and he told me that there was no treatment. He did tell me that my son could control the symptoms by taking medication and have techniques to keep the airway open. He also said that the treatments for my son’s disease also focuses on lifestyle and care issues including feeding and proper nutrition. His doctor also told my husband and I the long term effects of Tay-Sachs disease. He told us about a support group that may be helpful, called the Cure Tay-Sachs Foundation.
After I had some time to calm down, I asked him some more questions about Tay-Sachs. Apparently, it is caused by a genetic mutation in his HEXA gene on the 15th chromosome. Normally, the HEXA gene would break down fatty acids in nerve cells. However, with the mutated HEXA gene, the fatty acids will accumulate to toxic levels in the brain and spinal cord. The doctor said that it is passed on when both parents giva a faulty HEXA gene to the child. If only one parent gives the child a bad HEXA gene, then the child will be healthy. I guess that my husband and I both only had one abnormal HEXA gene, so we were not affected by Tay-Sachs. He also said that this is very common in the Ashkenazi Jewish population; 1 in every 27 people from the Ashkenazi Jewish population has the disease.