Wayne and I were surprised and pleased to be invited to a dinner given in honor of Robert Guthrie, Ph.D., M.D. It was held in Buffalo, NY on April 24 by the Heritage-Oak Foundation Third Founders' Award Celebration. We accepted the invitation to show our appreciation for the way his work has benefitted our family personally and other families with children with MSUD.

The event honored Dr. Guthrie's work in preventing mental retardation for some 30,000 individuals worldwide through his initiation of the process of neonatal screening for inborn errors of metabolism. This honorary dinner was also a fund raiser for the Heritage-Oak Foundation. Dr. Guthrie has been a member of Heritage Center for more that 35 years and past president of its board of directors.

Dr. Guthrie began his career as a cancer research doctor, but became interested in preventing mental retardation after his 6 year old son was diagnosed with developmental disabilities. He devised a simple, inexpensive test for Phenylketonuria (PKU) in the early '60s and stimulated thinking in terms of preventing brain damage. It opened the field of neonatal screening which now includes other genetic disorders like MSUD. All states in the US now require the PKU test for newborns and many other countries have adopted screening programs.

Although PKU tests proved very effective in early trials, Dr. Guthrie worked diligently to overcome the reluctance of physicians who opposed laws requiring the tests. The tests were set up in public health departments and some doctors saw them as a threat to private practice. Parent groups in the US and in other countries were influential in publicizing the value of the tests. Dr. Guthrie believes the combined efforts of parent groups and professionals can be very effective. He and his wife have been advocates for people with mental retardation and are active in various parent organizations associated with mental retardation.

In 1963 Dr. Guthrie developed the bacterial inhibition assay for leucine that has since been used to screen for MSUD. This could be administered along with the PKU test. In July '64 five PKU screening laboratories located in western New York, Massachusetts, Oregon, New Zealand and Los Angeles began field trials using the test for MSUD.

Oregon had the only statewide program at the time our son Monte was born in Portland on March 12, 1965. Being the first in the world to be detected through a state neonatal screening program, he made history. Dr. Guthrie was in California at the time, but came to Oregon to see the test. We still have the article from the Portland newspaper, The Oregonian, which includes a picture of Dr. Guthrie looking at Monte's test.

Little did we understand the significance of this test at the time.

Very little was known about MSUD in the '60s. Without the Guthrie test, Monte's diagnosis would certainly have been delayed, if he was diagnosed at all. When Shayla was born in Indiana in 1970, the sate had no screening test. Would she have been detected early if Monte had not been diagnosed? Dr. Guthrie's dedicated work has been a tremendous blessing to our family.

Sometime in the mid '80s I was reading about Dr. Guthrie and Wayne and I discussed calling him. I would not have hesitated had I known how personable he was. When I said my name, he immediately asked if I was Monte's mother÷approximately 20 years after his birth! He also offered to call back so I would not have the phone bill. This interesting chat began our friendship.

Dr. Guthrie expressed great interest in our organization. He was asked to speak at our MSUD Symposium in Pennsylvania in 1988. We were amazed and thrilled that a man of his caliber would bring his wife and attend all three days of the meeting. We knew then beyond a doubt that his motivation was not a desire for personal honor and acclaim but he cared.

Dr. Guthrie once told me he uses the example of the successful organizing of our small group, to encourage others with disorders to do the same. His influence on our family and interest in our support group, prompted us to take time to attend the dinner. We appreciated the opportunity to speak briefly with Dr. Guthrie and his wife. It was a great honor to share this event with them.

After the dinner, several persons spoke about Dr. Guthrie's work and contributions in the medical field. One doctor spoke of the Guthrie test as one of the five major medical events of this century. A daughter of the Guthries presented a candid view of life on the home front, and several colleagues and friends told of experiences they shared with Dr. Guthrie.

Dr. Guthrie now in his late 70s, remained seated when he spoke briefly to the group. However, I am happy to report that his memory must be quite keen because he greeted Wayne and me by our first names. May God bless him for his lifetime service to mankind.


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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