| Testimony of Families of SMA Member Barbara Trainor before the Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children |
Dr. Howell and Members of the Committee, thank you for the opportunity to appear before you today. My name is Barbara Trainor, and I am a board member of Families of Spinal Muscular Atrophy and the founder of the Chesapeake Chapter, one of 25 chapters throughout the country. I am also the mother of three children, including my daughter Erin Marie, who lost her life at only 5 ½ months of age almost thirteen (13) years ago to SMA. I am humbled to be here representing the millions of parents who have had children affected by SMA. All new parents make the assumption that the healthy baby they bring home from the hospital will be with them forever. Sadly, this is not always the case. Because SMA is a recessive disorder, there is rarely any indication through family history that a child might be at risk for SMA. Having already given birth to one healthy daughter, I expected nothing less from our second child, Erin. At Erin’s birth, there was not a single indication when we brought her home from the hospital that there was anything wrong. Yet, in less than four (4) weeks, this otherwise alert baby began to show signs of deteriorating movement. Her deterioration was swift and painful. At the time of Erin’s diagnosis, parents with children diagnosed with SMA had no hope, which makes the devastation and feeling of helplessness that much more intense. Yet today, hope exists in the form of newborn screening. The technology exists to begin screening for SMA immediately, which would allow us to identify SMA children soon after birth. The test is cost effective and results are available in a timely fashion with a very high rate of accuracy. As a mother, I would have welcomed this information immediately and begun planning for the care of my child. While a specific treatment for SMA does not exist currently, it is true that care plans and supportive care make an important difference for families affected by SMA. Furthermore, as Cynthia mentioned, Phase II clinical trials are underway around the world. It is ironic to me that newborn screening for SMA is not indicated because a cure does not exist, yet the development of a cure depends heavily on screening newborns in order to identify SMA afflicted children who might participate in clinical trials. Universal newborn screening for SMA is an integral component in the development of a cure. It is my sincere wish that one day children born with SMA will be identified soon after birth and can begin treatment immediately to protect their motor neurons and stave off the degeneration that can lead to death. While the march towards a cure will not bring back Erin, it can prevent other parents from experiencing the excruciating pain of losing a child. My hope today is that in the future we can give new parents of children diagnosed with SMA the hope that newborn screening can provide. I thank the Committee for their graciousness and willingness to listen to me. I would be happy to answer any questions that you may have.
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