The changing spectrum of IMD: surviving longer and growing old with IMDs

Until quite recently inborn metabolic diseases (IMDs) were considered diseases for pediatricians. However, as the recognition, diagnosis and management of IMDs improves, a new set of challenges, arise. Pediatric patients with classical IMDs are surviving longer, requiring transition to adult physicians who traditionally have little experience with them. The complex, multisystem problems in IMD patients are compounded by the episodes of metabolic decompensation characteristic of many IMDs, for which most adult medicine physicians are unprepared. In addition, many IMDs can present in mild form in adolescence or adulthood, while other disorders specific to adulthood are increasingly being identified. This concept of “adult onset IMDs” is still under recognized in the adult medical community and thus their exact prevalence is unknown.

This course, aimed at both pediatric and adult metabolic specialists and trainees, will discuss and address a number of controversies in the management of older patients with IMDs. The course is restricted to 50 participants plus faculty.

LEARNING OBJECTIVES

• To understand how treating an adult differs from treating pediatric patients
• To facilitate communication among physicians looking after adult patients with IMD
• To promote awareness of rare disorders that are increasingly recognized in adult medical practice
• To appreciate which services will be unique to adult patients
• To discuss the impact of common adult disorders on metabolic disease

CHILDREN'S HOSPITAL OF PITTSBURGH, THE DIVISION OF MEDICAL GENETICS

Renowned for its outstanding clinical services, research programs and medical education, Children's Hospital of Pittsburgh of UPMC has helped establish the standards of excellence in pediatric care. From Ambulatory Care to Transplantation and Cardiac Care, talented and committed pediatric experts care for infants, children and adolescents who make more than 1,000,000 visits to Children's, its many neighborhood locations, and Children's Community Pediatrics practices each year. The Division of Medical Genetics at Children's Hospital of Pittsburgh of UPMC maintains an active basic science and clinical research program. Our research is providing new insight into genetic disorders from which new and better therapies can be developed. The laboratory research program focuses on discovering the underlying causes of genetic diseases, understanding the clinical implications of mutations in genes, and development of novel approaches for treatment of genetic disorders. An active clinical research program collaborates with other genetic programs world wide to evaluate new therapies for genetic disease.

CHILDREN'S NATIONAL, DEPARTMENT OF GENETICS AND METABOLISM

Serving children for more than 140 years, Children's National is a proven leader in developing and providing innovative new treatments for childhood illness and injury. Children's National is the largest non-government provider of primary care in the District of Columbia, seeing more than 35,000 children through our health centers each year.

With more than 4,000 visits annually and 12 physicians, Children's National Health System is now the largest clinical genetics program in the United States.

Our division coordinates the multidisciplinary care of children with genetic and metabolic disorders or complex birth defects, within the division and in collaboration with primary care physicians and specialists from other divisions at Children's National.

The division's team of world-renowned medical experts, nutritionists, and genetic counselors care for your child's physical needs, while our social workers, child-life specialists, and pastoral-care staff offer care for your child's and your family's emotional, spiritual, and mental health. Some conditions cared for include: genetic disorders of all types, inborn metabolism errors, abnormal newborn screening results, lysosomal storage disorders, metabolic disorders, neurofibromatosis, skeletal dysplasias, genetic testing interpretation, adult genetic conditions.