Charlie Hines and Sami Parrish Tay-Sachs

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.

taysachs_genes

tay

7 responses to “Charlie Hines and Sami Parrish Tay-Sachs

  1. I liked the story behind the post as well as the ease that it transitioned into talking about symptoms and care for someone with the disease. The images also did a good job with helping the post convey a message. if I had to change anything though, I would make some reference to the pictures to explain why they’re there and what they are.

  2. Very informative, although there wasn’t much of a connection to the child with the disorder. Could of been more story-based. Still very interesting.

  3. I thougth this post had a lot of good information and it had a good storyline.

  4. This is very emotional and well thought out.

  5. I really enjoyed the posts. It really included the way a person would feel when they learn that a person in their family was diagnosed with Tay-Sachs. It was also informative and I learned about Tay-Sachs and its symptoms.

  6. I thought that this was very sad and emotional, but also described the symptoms and life with Tay-Sachs.

  7. This has a lot of good information and had a decent amount of sadness towards her son.

Leave a Reply