Inherited Metabolic Clinic a Leader In Region
from The Children's Hospital (TCH) News, November 2005
Staff of Children’s Inherited Metabolic Clinic provide
family-focused care for about 500 newborn to adult patients
a year with metabolic disorders. Staff members Laurie
Bernstein and Cindy Freehauf are not pictured.
The Inherited Metabolic Clinic at The Children’s Hospital is the only clinic of its kind in the Rocky Mountain region – in fact, it is so unique that it even has its own Low-Protein Food store.
Patients with metabolic disorders are born with errors in their body’s biochemistry, typically an enzyme that fails to work properly. The clinic, founded in the 1960s, provides family-focused care for about 500 newborn to adult patients a year with known or suspected inborn errors of metabolism.
Concern for metabolic disorders arises if a child has a positive newborn screen, clinical symptoms, a family history of a known condition, or concerning symptoms. The clinic treats patients with amino acid disorders, organic acid disorders, carbohydrate metabolism disorders, fatty acid oxidation disorders, urea cycles disorders, lysosomal and peroxisomal storage disorders, mitochondrial disorders and many other conditions.
Treatment of these disorders can consist of medications, infusion therapy or specialized diets depending on the specific diagnosis. Given some patients’ special dietary needs, the clinic started its own low-protein food store on the seventh floor in Tammen Hall.
“Our store is one of the few in the country available for patients with metabolic disorders,” said Laurie Bernstein, assistant professor of pediatrics and a metabolic nutritionist in the clinic. “Patients have the opportunity to buy low-protein foods that are vital to maintain good health and compliance with their special diets that they cannot find anywhere else.”
The staff consists of physicians, nurses, dietitians, genetic counselors and support staff – 14 staff members in all.
“The multidisciplinary approach is what makes the clinic successful,” said Janet Thomas, assistant professor of pediatrics and director of clinic genetics and metabolism. “Each patient requires individual attention and has needs that require a multi-specialty approach including physician, nutritionist and genetic counseling.”
The clinic is held Monday and Thursday in MSSC-3. When a patient is referred to the IMD clinic, the evaluation process includes a review of clinical and laboratory findings, a review of family history and a physical examination.
The care team then puts the pieces from each review together in the hopes of determining a diagnosis. If a patient is diagnosed with a disorder, the clinic provides ongoing care, including teaching and support for families and patients, genetic counseling to explain the patient’s diagnosis and risk of recurrence in future pregnancies; and management and treatment.
The physicians in the clinic are available on an in-patient and outpatient basis. Physicians spend much of their time on the telephone, discussing care with families and providing consultation to community physicians.
“Because these kids have chronic disorders, we really have the opportunity to develop relationships with the patients and the families,” Bernstein said.
Staff members take time to advocate for Colorado parents and children, especially in regards to newborn screening.
“It is crucial that parents get their newborns screened so treatment can start early, preventing problems later in life,” Thomas said.
Since the 1960s, all states have mandated tests for some congenital disorders. In Colorado , babies are screened at birth for seven disorders: Phenylketonuria (PKU), congenital hypothyroidism, galactosemia, biotinidase deficiency, sickle-cell disease, congenital adrenal Hyperplasia and Cystic Fibrosis.
Colorado recently passed legislation mandating that newborn screening tests increase from seven to about 30. The expanded newborn screening is expected to begin in 2006.
“These disorders are not curable, but they are treatable,” Bernstein said. “If newborns are not tested and become sick, there are long-term effects that will significantly impact their lives, including neurological damage.”
Early diagnosis and treatment of inborn errors of metabolism may prevent mental retardation, developmental delays, organ damage or death.
The clinic staff also focus on educating and teaching professionals and families. In October 2004, the staff hosted a Network PKU conference for patients on protein-restricted diets emphasizing dietary options and compliance. The medical genetics residency program trains young physicians to care for patients with these disorders. Nutritionists from all over the country come to the IMD clinic to learn more about dietary management of these disorders. Pediatric residents and medical students are encouraged to take elective rotations in genetics and metabolism. The staff also are frequently asked to speak at national conferences and parent support group meetings.
“Genetics has no memory, therefore the nature of the field is constantly changing,” Bernstein said. “Anything that involves genetics is always interesting and challenging. With the great teamwork that we have and the staff’s dedication, we aim to provide quality care to all of our patients and families.”
