The Association for Neuro-Metabolic Disorders (ANMD) held its parent conference on Oct. 21, '95. There were 8 MSUD families represented in the group of around 80 - mostly parents of persons with PKU, some PKU adults, and several persons representing other disorders.
On Sat. morning the MSUD families met separately in a workshop. Those attending were Peter & Sharon Shaffer, Kentucky; Leon & Diane Kennedy, Michigan; Sandy Keil, Michigan; Dave & Sandy Bulcher, Ohio; Dave & Laurie Page, Michigan; Ron & Denise Pinskey, Michigan; Wayne & Joyce Brubacher, Indiana and several Grandmothers. Chuck, Betty and Amy Whitfield-PA arrived in time for lunch. Sandy Keil was the parent leader and her report follows.
Workshop From Sandy Keil's Notes:
The MSUD workshop is a family reunion of sorts. It is so encouraging to meet with the other families and we updated each other on how our children have been doing. We were all happy to report we had a healthy year. We were especially honored to be able to welcome Michigan's newest MSUD family - Ron & Denise Pinskey. Newborn screening detected their son Zachary, born September 6.
We discussed many issues. Many families advocated getting the flu shot. Also, with the new chicken pox vaccine available, those children who haven't had the pox yet are planning to get the vaccine.
One family asked about school snacks. Some mothers send special snacks along if they know something is coming up at school. Sandy Bulcher said she let Jordan pick out a package of his favorite regular store bought cookies and she sent these to school for the teacher to keep on hand to give one or two to Jordan for special snack times. The teacher sends a note home with Jordan letting Sandy know how many cookies he had. Sandy can then figure that into her leucine count for the day.
Sandy and Dave Bulcher reminded us of the upcoming MSUD Symposium, June 20-22, '96.
The Pinskey's child, Zachary, was in the hospital at the time with pneumonia. This was his first hospitalization since his release after diagnosis. (He soon recuperated.) This gave Ron & Denise an opportunity to get acquainted with other families and ask questions. We had a lively and interesting time together, as usual. Our MSUD family ties grow stronger.
Program Review from Joyce and Sandy's Notes:
Randy Eisensmith, Ph.D. from the Department of Cell Biology, Baylor College of Medicine in Dallas, Texas spoke on Genetic Therapy and Genetics of PKU and Related Disorders.
Every person has 9 to 10 genetic mutations. We who have children with these diseases, know one of our mutations.
Genetics helps us understand the kinds of PKU, MSUD and other diseases. There are over 300 mutations of the PKU gene. Population genetic studies have shown that certain types are concentrated in specific areas of Euro-Asia. The country from which your ancestors originated may provide a clue as to the type of disease. (This is true in MSUD as evidenced in the Mennonite population which originated in certain areas of Europe and have a distinctive type of classic MSUD.)
One method of gene therapy currently being used to correct PKU involves using viruses to carry the corrected gene into the body. The activity level does not need to be nearly 100% to work. However the body's immune system attacks the virus as a foreign body and the new enzyme activity only lasts two to three weeks. Giving an immune suppression drug, as is used in transplants, permits it to continue working. Using a PKU mouse, experiments are continuing, but there are a number of hurdles remaining before satisfactory therapy can be started on humans.
Because of the location of the enzyme in the cell, the process is much more complicated for MSUD. Other diseases, however, will benefit from the PKU research.
Anna Marie Schaefer, R.D., MPH, from the University of Michigan, spoke on Monitoring & Compliance Issues in Metabolic Disorders. She showed charts of blood levels compared with the amount of dietary protein for MSUD patients. Individuals will follow health care advice based on four things: motivation or interest, susceptibility, severity of the consequences of not treating, and benefits and costs. Four barriers to compliance are: the amount of physical discomfort, financial concerns, inconvenience and time factor, and lack of concrete evidence of noncompliance. The latter is especially true in PKU.
Dr. Richard J. Allen, M.D. from the University of Michigan, praised the illustrations in the June '95 National Geographic article on "Quiet Miracles of the Brain" in his speech on "New Technology in Brain Chemistry in Metabolic Disorders." Good illustrations such as these are hard to find and are helpful in understanding brain functioning.
All brain cells have a birth date. Various chemicals insult brain cells depending on the developmental stage of the cell. The brain can be affected by static dementia (physical insult) and progressive dementia (chemical insult), which are different from retardation (low IQ). The insult to the brain is progressive in PKU and MSUD.
Most of the damage to the brain is done in the first few days of life in MSUD. High levels of leucine interfere with myelin (a covering on the nerve cells) formation. The sensitivity of the brain at birth is entirely different than when a person is older.
After a parent presentation by the mother of a child with Galactosemia, William Young, Ph.D., from the Michigan Department of Public Health, described the Michigan State Screening Program. He called it a great program with an excellent State Lab. The ANMD has been very instrumental in influencing the program and preventing it from being downgraded.
ANMD Parent Conference review
- Written by Joyce Brubacher