By Joyce Kryszak
Buffalo, NY – United States Congressman Thomas Reynolds joined doctors Tuesday at Women's and Children's Hospital to announce his support for a nationwide infant screening program.
New York is a national leader in infant screening, testing for 44 different debilitating conditions, such as Krabbe disease. Jim and Jill Kelly, whose late son suffered from that condition, are credited with pushing the state to increase the number of infant screenings.
But some states lag far behind, screening for as few as seven diseases.
Doctor Richard Erbe is Chief of Genetics at Women's and Children's Hospital. He said, until now, increased screening has been a solitary effort by parents such as the Kellys.
A proposed law, the Shine Act, would bring all states to a minimum standard of 29 tests, established by a panel of genetic experts as treatable core conditions.
Reynolds is re-introducing the law that previously failed to gain support in congress.
A similar bill was introduced in the Senate by Unites States Senator Hillary Clinton. Reynolds said they need to explain the importance of the law, by educating lawmakers and the public, to get it passed.
The proposed law calls for grants to help states expand their screening programs. But Dr. Erbe acknowledged that funding beyond testing is also a factor, even in New York. It is one of five states that do not collect fees to help cover the cost of follow-up once a condition is identified.
Congressman Reynolds talked about the difficulty in diagnosing his own child who is borderline autistic. There currently is no infant screening that can detect autism. However, Dr. Erbe said the testing is constantly evolving to identify new genetic conditions and treatments.
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