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Sandy Bulcher reports on the 1998 Metabolic Parent/ Professional Conference she attended in Massachusetts.

March 28,1998 was a beautiful Saturday for the New England Connection for PKU and Allied Disorders Conference. The meeting was held at the Holiday Inn in Taunton, Mass. Dr. Harvey Levy from Massachusetts spoke about newborn screening concerns. Some states are decreasing the number of diseases screened for. For this reason, he believes that we are "regressing rather than progressing" in the area of newborn screening.

Dr. Don Chase from NeoGen in Pittsburgh, Pa. followed with an explanation of mass tandem spectrometry. NeoGen has developed the technology to screen 30 diseases from one blood spot in less than two minutes. The company has screened 500,000 babies so far for both amino acid and fatty acid disorders. John Sarrantino, former Executive Director of the New England Screening Program, spoke about the need to educate government officials about newborn screening issues.

Dr. Holmes Morton from Lancaster County, Pa., discussed the benefits of early diagnosis, especially for MSUD and Glutaric Aciduria (a metabolic disorder common among the Amish population of Lancaster County). He used powerful visual aids to illustrate the difference between children who had the benefit of early diagnosis and those who did not.

Dr. Mark Batshaw from Pennsylvania spoke about gene therapy. Although researchers have identified the virus to use with the gene, problems still exist in getting the gene into the body and keeping it working. Dr. Batshaw has done work specifically with OTC Deficiency (a urea cycle disorder) and hopes in five years to use gene therapy in children with OTC Deficiency.

Prior to lunch, we divided into groups by specific disorder. Families representing PKU, MSUD, Homocystinuria, Organic Acidemias, and Urea cycle disorders were all present. I was excited about the number of MSUD families present. Richard and Sheila Pollica from Vermont, John and Rachel Ennis from Massachusetts, Paul and Cheryl Needleman from Massachusetts, Ana Montalban from Rhode Island, and I met informally with Dr. Morton to discuss issues pertaining to MSUD.

Following lunch, Dr. Levy updated the PKU families on PAL, an enzyme that was developed with the theory that it would allow PKU children to ingest increased amounts of phenylalanine. The research is on hold, however, because phenylalanine levels did not decrease as much as predicted.

The coordinator of the conference, Trish Mullaley, updated everyone on the Scott C. Foster Metabolic Research Fund. The organization has set a goal of $500,000 for research for metabolic disorders and has already raised $120,000.

During the afternoon break, families had time to purchase products, talk with vendors, sample low protein products, and meet new friends. Finally, a panel discussion with Dr. Levy, Dr. Morton, and Dr. Batshaw completed the afternoon. Dr. Morton expressed concern that fewer physicians are being trained in the field of biochemical genetics, thus fewer will have the expertise to care for children with metabolic disorders. Dr. Levy informed us that the best means of educating physicians and lay people about metabolic disorders is through newborn screening programs. Undoubtedly, everyone who attended recognized the importance of improving newborn screening programs nationally, and felt empowered to make a difference.

CHANGE THE LIVES OF MSUD ADULTS AND CHILDREN

The MSUD Family Support Group is currently funding several research projects and we are proactively looking for researchers interested in developing new treatments or finding a cure for MSUD. Significant funding is necessary if we are to accomplish this goal.
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