Isabelle Kretzman may only be 2, but the rural Brainerd girl has saved the lives of her two older siblings.
Her parents, Lisa and Tracy Kretzman, soon will share their family's story with a national audience in order to stress the importance of expanded newborn screening programs.
The Kretzmans are expected to be featured in a news segment on "The Today Show" on NBC sometime within the next two weeks. A television news crew spent a day with the family at their Long Lake Township hobby farm a week ago to film the segment.
In June 2001, or eight months before Isabelle was born, Minnesota expanded the spectrum of genetic disorders health officials test for during the routine newborn blood spot screenings performed in the hospital after a baby is born. A simple heel prick shortly after birth allows public health officials to test for more than 30 genetic disorders.
The Kretzmans' older children, Blake, 10, and Brooke, 6, also were screened at birth, but the limited tests at the time came back negative. Six days after Isabelle was born, the family's doctor notified them that Isabelle's screening came back positive for a metabolic disorder. The baby girl was retested again at a University of Minnesota hospital and the tests were once again positive.
The family was stunned to learn Isabelle was diagnosed with medium-chain acyl-coenzyme A dehydrogenase deficiency, a metabolic disorder referred to as MCAD deficiency. The little girl has a deficient enzyme that prevents the liver from helping to form ketone bodies, a backup energy source for the body. When glycogen stores are depleted because of fasting or illness, a person with MCAD deficiency doesn't have the backup energy. As a result, they may vomit, quickly become hypoglycemic or lethargic, suffer from seizures, fall into a coma or even die.
Specialists at first weren't going to test the Kretzmans' older children because many children who have undiagnosed MCAD deficiency don't live that long, the family was told. A month later, Brooke and Blake were tested. The siblings' tests came back positive for MCAD deficiency. Their parents are both carriers for the disorder, they learned.
"It was extremely overwhelming," said Lisa Kretzman. "Not only did we have a baby with it, but our older children had it too. We had to change everything."
The metabolic disorder is manageable, but it has brought about many lifestyle changes for the Kretzman family. The children's blood sugar levels are tested each day because the levels can drop very quickly. They are on a strict low-fat, high-carbohydrate diet because their bodies don't metabolize fat. They feel more energetic now as a result. The children have small, healthy snacks often during the day so their energy isn't depleted. The Kretzmans raise their own beef to ensure the children are eating leaner meat.
Prompt medical attention, including intravenously administered glucose, is important at the earliest sign of infection or illness because their bodies can't tolerate periods of fasting. All three children have been hospitalized this year.
Lisa Kretzman said Brooke and Blake both exhibited symptoms early on but most physicians aren't aware of the rare metabolic disorder. Blake was tested for diabetes when he was 5 because he'd shake between meals and get overly exerted during physical activity. Both children, as infants, didn't sleep through the night. They would wake up because their bodies couldn't go without energy that long, the family later learned. Their low-fat diets have made them less sluggish. Blake gained more energy and Brooke doesn't have as many headaches as she used to.
Lisa Kretzman said it has been difficult having three children with this disorder, particularly because many area health care professionals are unaware of MCAD deficiency. They have at times underestimated how critical it is for the children to receive immediate medical attention. Kretzman now on each trip to the hospital carries with her a statement from a University of Minnesota specialist that outlines the complications and required treatment during illness for the children.
"It was very hard," said Kretzman, when the children were first diagnosed. "The doctors here didn't even know about it. How are we going to deal with it?"
In March, Lisa Kretzman was appointed to the Minnesota Department of Health Newborn Advisory Committee. "The Today Show" learned about the family from a Wisconsin geneticist and wanted to interview them as a family that benefited from expanded newborn screenings. Several states don't offer expanded newborn screenings, including Texas, where the television producers interviewed a family whose child is severely disabled from MCAD deficiency because it wasn't detected early on, said Lisa Kretzman.
"It's not fair I live in Minnesota and my children can be saved and their child wasn't," she said.
The family is grateful their youngest daughter was born eight months after the expanded newborn screening program went into effect. If she had been born earlier, they would have never known that all three children have the metabolic disorder.
"Isabelle was a true gift from God, sent to save Blake's and Brooke's lives," said Lisa Kretzman.
JODIE TWEED can be reached at firstname.lastname@example.org or 855-5858.
What is newborn screening?
--Within a baby's first 24-28 hours of life or before the infant is discharged from the hospital, a drop of blood is obtained from the baby's heel. The blood is screened to identify babies who have genetic metabolic disorders. If diagnosed and treated early, mental retardation, developmental delays, severe illness and death can be prevented.
--Minnesota expanded the number of metabolic diseases newborns are tested for in June 2001. State law requires that hospitals arrange newborn screening testing for all newborns unless a parent objects in writing.
--Most children diagnosed with these disorders identified by newborn screening do not have a family history of the condition, according to the Minnesota Department of Health.
--The state health department reported that about 70 out of 68,000 babies born each year in Minnesota are diagnosed with a metabolic condition.
--For more information on Minnesota newborn screening, contact your physician or visit the Minnesota Department of Health Web site at www.health.state.mn.us/divs/phl/newborn.
Information provided by the Minnesota Department of Health.
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