No one knows better than Jessica Godfrey how fortunate her 18-month-old son, Conner, is. Born in February 2005 with Maple Syrup Urine Disease (MSUD), a rare, inherited metabolic disorder that affects 1 in 260,000 newborns, Conner's disease was detected early--just five days after birth. Thanks to state newborn screening programs, Conner was immediately diagnosed, evaluated and treated with a special formula and a low-protein diet at Emory University's Genetics Metabolic Nutrition Program, part of the Emory School of Medicine.
Conner is now a healthy and happy toddler. An adventurous, affectionate child, Conner loves climbing, splashing in water, and playing with his big sister, Katelyn, who is 3. He weighs 23 pounds, has surpassed developmental milestones, and has never shown any signs of developmental delays.
"Conner is not your typical MSUD child," says proud mom, Jessica, who suspected something was wrong when shortly after birth, Conner didn't eat well and was always lethargic. "He's never been in the hospital, and there is nothing visible to indicate that there's anything wrong with him. It all comes down to the newborn screening test. Conner would have been in trouble if more time had passed without getting results. Once the results were in, the dietitians and doctors at Emory and Childrens Healthcare of Atlanta at Egleston immediately took care of him. They went above and beyond the call of duty for our little boy."
Jessica and her husband, Jody, are planning to show their appreciation--and support--for the Metabolic Genetics Clinic at Emory. For the second year in a row, the Godfreys are hosting a Customer Appreciation Day and Raffle at Chick-Fil-A, 2005 Macland Crossing Circle in Marietta on Saturday, Aug. 12 from 11 a.m. to 2 p.m. All proceeds will benefit the Emory Genetics Metabolic Nutrition Program. Winning prizes include free Chick-Fil-A chicken sandwiches and milkshakes for one year.
The Godfreys' goal is to raise $7,000. In 2005, they raised $4,800.
"The journey we've been on has been amazing," says Jessica, who maintains a website about her son's disease. "We are extremely grateful for the people who've walked this journey with us. This fundraiser is our way of saying 'thank you.'"
Jessica Godfrey says she is especially grateful for Rani H. Singh, PhD, RD, LD, assistant professor of pediatrics and director of the Metabolic Nutrition Program at Emory. Dr. Singh has provided an endless amount of support to families like the Godfreys, advising them of nutrition management to help with their son's disease.
"The turn-around time for Conner's newborn screening test results were great, and he never developed any illnesses or clinical symptoms," says Dr. Singh. "Through the screening program, we were able to predict the problem early and to develop proper nutrition intervention. This is a model for predictive medicine, which maximizes the power in the ability to predict the disease before symptoms occur and allows the opportunity for pre-emptive care through nutrition to stop or limit the disease. We're so happy that Conner is doing amazingly well and are grateful for the Godfreys' support. They are a voice of support in the community. We appreciate all that they do."
Maple Syrup Urine Disease derives its name from the sweet, burnt sugar, or maple syrup smell of urine. According to the MSUD Research Foundation, the disorder affects the way the body metabolizes, or processes, certain components of protein. These components are the three branched-chain amino acids known as leucine, isoleucine, and valine. These amino acids accumulate in the blood, causing a toxic effect that interferes with brain functions and results in the maple syrup odor. For children and adults with such inherited metabolic disorders, even a tiny amount of the wrong foods can cause serious long-term consequences such as coma, irreversible brain damage, physical disabilities, even death. Their diets must be carefully monitored. Foods like meats, cheeses and other dairy products must be avoided because they contain too much protein.
Both the mother and father have to be carriers of MSUD for a child to inherit the disease. When both parents are carriers, there is a 1 in 4 chance with each pregnancy that the baby will receive a defective gene from each parent and have MSUD.
Emory Genetics Metabolic Nutrition Program was the first in the country to create a metabolic formula and low-protein food store that offers "one-stop shopping" for patients with MSUD and other metabolic disorders. There, patients can purchase special foods and formulas that are the major source of their nutrition. The program also offers support groups and education sessions.
The metabolic genetics clinic also serves children and adults with diagnosed metabolic conditions such as phenylketonuria (PKU) and galactosemia. The team consists of metabolic dietitians, clinical geneticists, and genetic counselors. In addition to evaluating and managing children and adults with inherited metabolic disorders, the metabolic team also provides cooking classes and a metabolic summer camp for teenagers ages 12 and up with PKU or MSUD.
Every year, geneticists, nutritionists and genetic counselors at Emory are responsible for the follow-up of nearly 5,000 abnormal newborn screening tests and the treatment of over 250 children and adults with metabolic disorders.
For more information about the Emory Genetics Metabolic Nutrition Program, please contact Rosalynn Borlaza at (404) 778-8566 or visit www.genetics.emory.edu. To learn more about Conner, visit www.carepages.com.