'Metabolic
Camp' Offers Fun, Education and Fellowship to Girls with Genetic Disorders
Children living
with rare inherited metabolic disorders known as PKU (phenylketonuria)
and MSUD (maple syrup urine disease) often live lives of isolation.
Their conditions must be controlled by lifelong adherence to strict
special low-protein diets — especially for female patients before
and during pregnancy to prevent mental retardation of their child.
Now in its 8th year, the
Metabolic Camp at Emory University seeks to aid in the transition from
childhood to adulthood for young female patients attending the camp.
This year, 32 campers, age 12 and older, will convene on the Emory University
campus from June 25-30.
"Ultimately, we want to impact
the quality of life for the campers," says Camp Director Rani H. Singh,
Ph.D., R.D. "As they enter adulthood, they need to develop diet self-management
skills and become more independent."
As a biochemical nutritionist,
Dr. Singh and her staff provide nutrition management to every PKU and
MSUD patient in Georgia from birth to childhood. After years of addressing
the special needs of afflicted children and their parents, Dr. Singh
developed the model, research-based metabolic camp in 1995 for young
female patients.
"We've noticed a tremendous
affect on patients, and a decrease in isolation just during the one
week of camp," Dr. Singh says. "We're working to develop a national
system of networking and resources to continue beyond camp."
In between sports activities
and local field trips, the campers will receive intensive education
from Emory nutritionists and genetic counselors. Presentations will
include Diet and PKU, Monitoring and Management Issues with PKU,
Healthy Mind, Health Body, and Maternal PKU. They will also
participate in various cooking demonstrations to learn different preparation
methods for the restricted foods in their diets. The recipes have been
carefully tested and analyzed by Erica Lesperance, R.D., who works with
Dr. Singh, and other clinical research dieticians.
Dr. Singh says most PKU or
MSUD patients may not attend conventional camps because they are not
set up to meet their special dietary needs.
"One of the most important
things the girls will get out of the camp will be the opportunity to
make friends with kindred spirits."
Camp organizers are hoping
that parents, too, will develop some much-needed camaraderie. A special
banquet on June 29 will give local parents of children with metabolic
disorders the chance to meet other campers' parents.
Although many boys in Georgia
are diagnosed with PKU and MSUD, the camp targets teenage girls since
they are at such high risk for delivering severely compromised babies
should they become pregnant, Dr. Singh explained.
Both the mother and the father
have to be a carrier for PKU or MSUD for a child to inherit the disease.
But even though a woman with PKU may not necessarily pass the condition
to her offspring, she is at high risk for giving birth to a mentally
or physically retarded baby if she does not follow the diet before and
during pregnancy.
"We want to emphasize to
these girls the importance of planning pregnancies so that they are
following the diet before conception," Dr. Singh said.
About the Diseases
PKU
- Persons with PKU (phenylketonuria)
are unable to process the vital amino acid phenylalanine (PHE). PHE
is found in all protein foods such as meat, fish, eggs, dairy products,
and to a lower degree in cereals, grains and legumes.
- In affected people, the
amino acid builds up and becomes so toxic it can cause mental retardation,
particularly in young patients whose brain and nervous system are
still growing. Adhering to a low-protein diet augmented with "medical
foods" and special amino acid formulas is the primary means of controlling
both PKU and MSUD. Straying from the food plan leads to reduced I.Q.
and mental retardation in PKU patients.
- About 1 in 12,000 babies
born in the United States is diagnosed with PKU. There is a state-mandated
newborn screening performed on Georgian babies each year.
- Georgia currently has
close to 150 PKU patients.
MSUD
- Maple Syrup Urine Disease
is much rarer and poorly understood.
- MSUD occurs in approximately
1 per 129,000 births.
- The effects of going off
the diet are more grave for MSUD patients. Coma or death may occur.
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