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Newborns screened for rare diseases
Most cases of ALS appear to be sporadic; however, about 10% of pALS have a genetic mutation linked to ALS. In Europe there is some conversation about having newborns tested for genetically related rare disease. https://alsnewstoday.com/2020/05/25/eurordis-urges-expansion-of-newborn-screening-initiatives-across-europe/ For some disease this could mean addressing the needs of a child prior to the child suffering. In other cases, it could help to reduce the amount of time it takes to get a proper diagnoses and avoid misdiagnoses.
Although ALS typically does not strike children or younger people, for families with a history of ALS, do you think knowing if your child had a mutated gene associated with ALS would be beneficial? Would knowing you or your child had the mutation change your way of living? How would having this informaton effect you as a parent? What do you think about genetic testing of newborns for rare diseases?
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