4 ms·
You are not being realistic here. Not all cases are detected. Unfortunately, rare mutations are missed by panels used in the United States. This person, who h
by disabled 5y ago
You are not being realistic here.
Not all cases are detected. Unfortunately, rare mutations are missed by panels used in the United States.
This person, who has no Jewish ancestry whatsoever, has a Jewish husband. They got tested for Tay-Sachs using a standard panel in the United States. Their rare mutation for Tay-Sachs got missed and their child had it. :-(
See: https://www.huffpost.com/entry/dragon-mothers-and-grieving-parents_b_2956023 https://www.huffpost.com/entry/dragon-mothers-and-grieving-p...
"Rapp was shocked. During her pregnancy she had been tested twice for Tay-Sachs, and both times the test came back negative. She later learned that a standard Tay-Sachs screening covers only the nine most common mutations. Rapp, who is not Jewish, and her husband, who is, were carriers of a rare mutation. To put this in perspective, fewer than 20 children in the United States are born each year with Tay-Sachs to parents who, like Rapp, tested negative and thought they could cross that worry off their lists."
They did everything right.
As I said before, there are also other cases where parents are NOT Jewish at all, and end up having a kid with Tay-Sachs.
Not all parents have the resources to do these genetic tests, and insurance, in the generally speaking, does not cover such testing for genetic diseases such as Tay-Sachs in the United States.
Here is some information from the major Tay-Sachs organization in the United States (https://www.ntsad.org/index.php/insurance https://www.ntsad.org/index.php/insurance):
"Despite position statements from the American College of Obstetricians and Gynecologists (ACOG) stating it is a basic standard of care to screen persons of French-Canadian, Louisiana-Cajun and Ashkenazi Jewish descent for Tay-Sachs, some may have issues with getting coverage for carrier screening. NTSAD can help you appeal for coverage and at the same time educate the healthcare industry about the importance of genetic testing prior to conception.
If you are having problems with insurance covering your carrier test, please contact the office at (617) 277-4463 or info@ntsad.org for assistance with the appeal. We will need your name, address and plan number. The office will provide a letter of support to your insurance company as well as educational materials to present to their medical review team.
It is important to note that while the appeal process and potential out-of-pocket cost of genetic testing may seem daunting, it is a drop in the bucket compared to caring for a child affected by Tay-Sachs, Canavan or another allied disease."
- s1artibartfast 5y ago>You are not being realistic here. I'm not sure what you are objecting to here and your parent post. Are you opposed to genetic testing or counseling? Are you opposed to developing better tests?