I have been interested in newborn screening since our son Jordan was diagnosed with MSUD 12 years ago. Ohio was not screening newborns for MSUD at that time. (Screening for MSUD in Ohio started in January 2001). I felt very angry after learning that screening was possible for MSUD, and Jordan suffered needlessly as a result of a delayed diagnosis.
Initially, I was only interested in advocating for MSUD screening. However, once I met children with other diseases who suffered as a result of the lack of screening, my vision expanded. I now know that it is essential for all babies to receive comprehensive screening to ensure their well being.
Several private labs do comprehensive screening - it is possible to screen for 30 or more disorders. Also, several state labs offer comprehensive screening to all the babies born in their states. Most state labs, however, continue to screen for 4 to 8 different diseases. MSUD is screened for in only 21 states.
The first national meeting regarding the use of tandem mass spectrometry (MS/MS) for newborn screening was held in San Antonio, Texas in June 2000. At that time, three states (Massachusetts, North Carolina, and Wisconsin) and two private institutions (NeoGen Screening and Baylor Institute of Metabolic Diseases) were using MS/MS for newborn screening. Since June 2000, several state programs (Iowa, Minnesota, Ohio, and South Carolina) and one private institution (Mayo Clinic) have become operational. There are several states that are in various stages of adding MS/MS technology - California, Illinois, New Jersey, and New York. In addition, most babies in Pennsylvania receive comprehensive screening through NeoGen Screening.
In September 2001, I had the privilege of attending a newborn screening conference in Madison, Wisconsin titled, "Enhancing the Implementation of Tandem Mass Spectometry for Newborn Screening Laboratories." The meeting was hosted by the Wisconsin State Laboratory of Hygiene.
The purpose of the meeting was to share experiences with using MS/MS technology. Speakers shared their expertise on a number of issues including: implementation of MS/MS technology, follow-up plans, diagnosis, and treatment of the disorders identified by tandem mass spectrometry.
Many professionals involved with newborn screening from all over the country, as well as many international lab directors, were present. There were only three parents present - Trish Mullaley, PKU mom from Massachusetts representing the National Coalition for PKU and Allied Disorders, Tera Mize, from Georgia representing Saving Babies through Screening (formerly Tyler for Life), and myself representing the MSUD Family Support Group.
The first day (September 10) was packed with information. I had an opportunity to meet a number of state lab directors and others from the private sector. That evening, we toured the Wisconsin Newborn Screening Lab.
The following day (September 11), the meeting barely got started when we learned of the terrorist attack in NewYork City. As you can imagine, the tone in the room changed dramatically after the announcement. We were dismissed for an hour or two to digest the news. Like many of you, I was glued to the TV as I watched the events unfold. Suddenly, newborn screening, and most everything for that matter, seemed very unimportant. All I wanted to do was go home. We were told no planes were flying and no trains were available for transportation. I was fortunate, however, to find space in a rental car that was heading for Columbus. The majority of the meeting participants were from other states or countries, and many did not have transportation home. The meeting continued for those who were staying, but many participants left early as opportunities arose for transportation.
I really enjoyed the meeting in spite of missing most of the second day. I encourage all of you to question your state lab. Do they have MS/MS equipment? If so, where are they in the process of implementing MS/MS screening for newborns? To find out which disorders your state screens for, see: www.savebabies.org