The New England Connection for PKU and Allied Disorders held their 1999 PKU Parent/ Professional Conference in Tauton, Massachusetts on March 20. Sandy Bulcher represented our MSUD Family Support Group at the conference. On the evening of the 19th, a group of persons interested in newborn screening met to discuss issues relating to state screening programs. Here Sandy reports on this meeting. (More information on the meeting on the 20th farther on in this issue.)
I've been interested in the issue of newborn screening since our son Jordan was diagnosed with MSUD nine years ago. At that time, it was painful to learn that had we lived in one of the 21 states that screen for MSUD, Jordan would not have had to suffer 17 days before a right diagnosis was made. Over the last few years, I have been trying to have MSUD added to Ohio's newborn screening program, but had never expanded my thinking beyond that. Fortunately, Trish Mullaley, a PKU parent and former president of the New England Connection for PKU and Allied Disorders, had a vision to improve newborn screening on a national level.
Last fall, we started making plans for the first gathering of parents and professionals from across the country interested in newborn screening. We were able to see this vision become a reality on Friday, March 19, 1999 in Taunton, Mass. Approximately 25 parents and professionals met to discuss flaws in our current newborn screening system, as well as the need for expanded screening nationally. Parent representatives from the following organizations attended.
- PKU of Florida
- PKU of Illinois
- Children's PKU Network (California)
- Mid Atlantic Connection for PKU
- PKU Organization of Wisconsin
- Ohio Coalition for PKU and Allied Disorders
- New England Connection for PKU and Allied Disorders
- MSUD Family Support Group
- Parents of Galactosemia
- Homocystinuria (family representative)
- Organic Acidemia Association
In addition to these parent representatives, professionals from several formula companies, a low protein food company, and two newborn screening companies were present. We were honored that Dr. Richard Koch from California took interest in our group and attended.
I've learned a lot since researching the issue of newborn screening. First of all, even though all 50 states and the District of Columbia screen for PKU and Congenital Hypothyroidism, this does not necessarily detect all these infants, and numerous infants are missed annually. Frequently, the problem occurs because of the lack of education, poor communication, or inadequate follow-up. We discussed numerous ways to address these problems including printing educational materials, developing a Web site, and seeking the support of organizations such as the National Institutes of Health and Center for Disease Control.
Except for PKU and Congenital Hypothyroidism, states vary in the diseases for which they screen. (Only twenty-one states screen for MSUD at this time.) In the last several years, new technology has been developed, tandem mass spectrometry (MS-MS), which has the capability to test for approximately 30 diseases including MSUD. Several states are using this new technology for newborn screening in addition to their current program. All present at the coalition meeting felt that promoting expanded screening through MS-MS would be beneficial, in addition to addressing problems in our current system.
Also, everyone agreed to forming a national non-profit organization called the National Coalition for PKU and Allied Disorders. Initially, we will be looking at newborn screening issues, but will expand into issues related to insurance coverage for formula and low protein foods. The coalition will be set up so that a representative from each of the metabolic organizations can obtain information and disseminate it to their local organizations. I'm really excited about being involved with the National Coalition and feel confident that we can make a difference. I will keep you informed of our progress. Thanks to SHS, Wallac, and Neo Gen for funding this first important meeting.