Luke and Laura, a young married couple from our area of Indiana, knew they could have a child with MSUD. They both had relatives with children with MSUD. They were tested and found to be carriers of the Mennonite mutation for MSUD.
When Laura became pregnant, we began planning to test their newborn immediately after birth. Arrangements were made to send blood to the Clinic For Special Children in Pennsylvania. We also sent a cheek swab to a laboratory in Columbus, Missouri for DNA testing. The usual state screening tests were sent to the state laboratory in Indianapolis.
The test results from blood drawn at 14 hours were available from the Clinic the next day when the baby was 48 hours old. The results of the DNA tests were called to them a few hours later. The infant was not even a carrier - totally free of MSUD. The state tests, showing a slightly (false) positive reaction, were reported almost 2 weeks later.
Our youngest son Troy and wife Carolyn had his first child on May 19th, our first granddaughter.It will be one week tomorrow since her newborn screening test was taken, and we still do not have the results from the state. Although we did not have to rely on the state tests, I am appalled at the slow response. This is not acceptable.
A parent group is advocating TMS screening for Indiana.Hopefully the whole screening program will be improved soon. What is the situation in your state?
- Joyce Brubacher