Winter 1999 Articles

Letter From The President
Clinic Corner
Doctor Margaret O'Flynn Retires
Some Lessons Learned After 30 Years Of Activism
Planning to Travel?
A Frightfully Good Time

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LETTER FROM THE PRESIDENT

1999 - Wow! If you are like me, the memories of New Year's resolutions, the New Year's blizzard, and Valentine's Day are already fading. You are dealing with school, you are tired of winter weather and are already looking forward to spring.

For the 1999 PKU Board of Directors the winter is a very busy time. In January we resumed our monthly meetings and are hard at work planning events for the entire year. It seems like we just finished the 1998 Annual Meeting but we are already planning the 1999 Annual Meeting. This Press contains our plans for 1999 - our 30th Anniversary Year. That's right - the PKU Organization of Illinois is celebrating its 30th year of service in 1999! We have so much to celebrate and much more to do. While the Organization has come a long way, it still has far to go.

We hope you will participate in many of our events during the year. After all, the Organization is nothing without the families and children who share our common bond - PKU. The Board often asks for volunteers, contributions and your ideas to help us better meet your needs. The 1999 Board has 11 members and we need your assistance to plan and implement the many events and services provided by the Organization. I encourage you to make 1999 the year you act on your great idea or volunteer some time to help make the Organization even better in 1999. Thanks and best wishes for a happy and healthy 1999! Hang in there - spring will be here soon.

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CLINIC CORNER

In Illinois, newborn babies have been screened for PKU for over 30 years. That means over 5 million babies have received the now famous heel stick to make a blood spot on filter paper. Several events came together in the early 60's that allowed screening to take place. PKU was known as a cause of mental retardation since 1934, but no treatment for PKU was developed until the 1950's. The treatment, a phenylalanine restricted diet supplemented with a low phenylalanine formula, was found to be effect in preventing brain damage. However, there was no means of determining who had PKU in a reliable, systematic way until Dr. Robert Guthrie developed his method of screening. So with a means of identifying individuals with PKU before brain damage was suffered and an effective treatment available, newborn screening was started in 1965.

In 33 years of testing, 387 children have been diagnosed with classical PKU. In classical PKU the blood phenylalanine levels are very high and the child requires the phenylalanine-restricted diet in order to grow and develop to his or her greatest potential. An average of 12 babies is diagnosed for PKU in our state each year. Interestingly, in 1981 19 babies were identified while in 1974 only five were diagnosed with PKU.

An additional 140 babies have been diagnosed with benign hyperphenylalaninemia. These children have blood phenylalanine levels that are higher than normal (1-2 mg/dl) but that are within the treatment range for PKU, that is 2-6 mg/dl. They grow and develop normally without any treatment.

PKU is a rare disease and typically 1 in 15,000 babies in the United States are identified as having PKU. In Illinois, PKU has been identified in 1 in 17,000 babies. The method for screening has changed as new technologies have been developed. The State of Illinois initiated testing with the Guthrie test. This continued to be the procedure used in the laboratory until 1995. At that time, the laboratory method was changed to the fluorometric test. This involves the use of an automated procedure, which performs a chemical analysis of the filter paper blood sample. In contrast the Guthrie test uses a biological method, bacterial inhibition assay. The change in lab methods was done because the fluorometric method is more sensitive and accurate in determining phenylalanine levels especially at low concentrations. These benefits were even more important because at that time 24-hour discharges from the hospital began. Therefore two blood samples were required from every baby -- one when discharged from the hospital and a retest after 48 hours of life. With the new procedure all babies could be accurately tested at 24 hours and no retest was needed. Thirty-three babies with PKU have been identified since this time.

The future of newborn screening is very promising. New technologies including DNA testing will offer many opportunities to add new diseases and preventative treatments to the program. In the PKU area, the technology being considered is tandem mass spectroscopy. The State of Illinois has purchased a tandem mass spectrometer and a pilot study using this testing method to screen for PKU will begin soon. This technology allows for very sensitive and accurate determination of phenylalanine and tyrosine levels in blood spots. If the procedure performs as expected more accurate information on phenylalanine levels will be obtained. This is especially important in lowering the number of false positive test results. A false positive result is a positive screen result in a baby who does not have PKU or hyperphe. Another important aspect of this technology is that other biochemical genetic diseases can also be tested for. We will keep you informed on progress in this area.

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DR. MARGARET O'FLYNN RETIRES

If you have attended any of the Organization's Annual Meetings or go to clinic at Children's Memorial Hospital, you know Dr. Margaret O'Flynn. Dr. O'Flynn has taken care of children with PKU in Illinois since 1956. Late in 1998 she announced her retirement. After over 40 years of service she will take a well deserved break to pursue her many interests outside of PKU. Dr. Joel Charrow will step in to manage the Children's PKU Clinic. (Look for more about Dr. Charrow in the next issue of the PKU Press).

Dr. O'Flynn received many tributes, gifts and dinners in her last few months at Children's. An Illinois family helped us with an emotional tribute at the Annual Meeting in November by presenting Dr. O'Flynn with a poem dedicated to her and shared thoughts and kind words about what Dr. O'Flynn's support has meant to his family over the years.

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SOME LESSONS LEARNED AFTER 30 YEARS OF ACTIVISM

At our 29th Annual Meeting, the PKU Organization of Illinois was honored to present Dr. Eugene Pergament as one of our distinguished speakers. Dr. Pergament is the Chair of the Advisory Committee on PKU and Other Genetically Related Disorders for the Division of Family Health of the Illinois Department of Public Aid. One of the Advisory Committee's responsibilities is overseeing newborn screening in Illinois. Dr. Pergament has been a member of the Advisory Committee since 1976 and has served as its Chair since 1990. Dr. Pergament also has been an active participant in the field of human genetics for well over 30 years, through his medical practice, his teaching posts, his writing and speaking activities and his volunteer activities for such organizations as the March of Dimes.

Dr. Pergament began his presentation to our members by discussing the origins of the newborn screening program, the history of clinical follow up programs for the treatment of PKU and the Illinois Department of Public Health's involvement with the detection and treatment of PKU. As his talk disclosed, the way in which PKU is detected and treated in Illinois was shaped by visionary clinicians and by one mother's efforts to assist her child in receiving necessary treatment.

When newborn screening for PKU began in the early 1960's, it was a voluntary screening program. As part of this voluntary effort, residents at two state hospitals in Lincoln and Dixon were tested. Screening disclosed that 89 of these residents had PKU. Other affected individuals were screened through various hospitals throughout the state. Because dietary treatment ameliorated the devastating effects of untreated PKU, after learning the results of the voluntary screening program, in 1964, the Illinois legislature changed the screening program from a voluntary one to a mandatory one. Illinois was fortunate also because two clinics--one at the University of Illinois and the other at Childrens' Memorial Hospital--provided treatment and clinical follow-up of individuals with PKU. Both Drs. Wong and O'Flynn were instrumental in establishing these clinical programs. At about the same time, a mother of a child with PKU from Oak Park wrote a letter to then-Governor Otto Kerner, requesting assistance in obtaining the formula her child needed as part of the PKU dietary treatment regimen. In response, Illinois, through the Department of Public Health, began providing this medical necessity to PKU families free of charge. And, with the advent of mandatory screening, the Department of Public Health's role expanded to maintaining a central registry of individuals with PKU to facilitate follow-up treatment. As a result of these efforts, by 1966, 96% newborns were screened and those with PKU were placed on the PKU diet.

Because of the success of the PKU screening program, the follow up treatment efforts through the PKU clinics, and the Department of Public Health, Illinois' screening program has served as a model both for other states and for other genetic conditions. Through the Advisory Committee, Illinois began other pilot screening programs in 1967. When deciding whether a pilot program should become mandatory, the Advisory Committee has looked for the components which made the PKU screening program successful--whether early detection would result in the initiation of treatment which would ameliorate or eliminate the effects of a genetic condition. When these components are present, mandatory screening and subsequent treatment and clinical follow up serve the State's mandate to address public health issues.

This, of course, is just the beginning of the story. After 20 years of mandatory screening, in the mid-1980's, the focus of PKU treatment changed from a 6 to 8 year treatment regimen to the diet for life. Clinicians also began to focus on the issues of maternal PKU. These changes have increased the need for further services by the Illinois Department of Public Health, with a corresponding increase in costs, during a time when public health programs are subject to increased scrutiny. As an organization, we face the challenge of shaping the State's continued involvement in PKU's longer-term treatment program. This effort, like past efforts, begins with small steps, like a letter from a concerned parent. As Dr. Pergament reminded us, positive results can be achieved, but it takes time, energy and tenacity.

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PLANNING TO TRAVEL?

A few tips to help put your care-giver at ease with the PKU Diet

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A FRIGHTFULLY GOOD TIME

Last year's first ever Halloween Party was a huge success and ideas are already in the works for this year's party. Participation for this first time event was remarkable. About 40 people attended to trick or treat, play games, and paint pumpkins. Snacks were in abundance. Spider cupcakes, Witch's Toes, and Ghost Jigglers were just a few. M&M Mars and Willy Wonka donated cases of M&M Mini's, Skittles, Jaw Breakers, Runts, and Taffy that the children took home.

Among the favorite games were: the limbo, spooky musical chairs, and a ghost pinata. While the children played moms and dads socialized. Prizes were awarded for Most Original, Scariest, and Best costumes. A good time was had by all! For this year's party a cooking class will be incorporated for parents while kids play games. The date will be Saturday Oct. 16th in South Holland. Hope to see you there!

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