New CHDD clinic to pave way for young adults with metabolic disorders as they move to adult health care system

"A generation ago there was a high mortality rate for all of these disorders, but now there is so much more information available, we can work with families so these children do grow up," says Cristine Trahms, director of the nutrition discipline for CHDD's University Center for Excellence in Developmental Disabilities (UCEDD) and coordinator of the new clinic. "Earlier diagnosis and better treatment has produced a group of young adults eager to take charge of their own health."

More than 60 individuals from CHDD's pediatric Biochemical Genetics Clinic are poised to make the move to the new adult clinic. Transition is proceeding in small groups according to disorder. So far, eight young adults with nephrogenic diabetes insipidus and two young adults with galactosemia have started on the road to the transition.

Metabolic disorders is a term that encompasses a variety of genetically-based disorders that result from an inherited inability to produce a particular enzyme necessary for normal metabolism. Consistent and ongoing nutritional therapy to compensate for the missing enzyme is necessary for a person born with one of these disorders. Without therapy, toxic chemicals build up in the blood and tissues, which can lead to mental retardation and other disabilities.

Although the Biochemical Genetics Clinic has been providing diagnoses, evaluation and long-term management plans for children with metabolic disorders for nearly 30 years, no coordinated program of treatment and support has been available for adults.

"With the growing number of young people whose success in treatment has enabled them to anticipate independent lives, the time was right to develop a program specifically geared to address their adult needs," explains Trahms. Inspired by one young woman's commitment to becoming self-sufficient (see below), Trahms and Dr. C. Ronald Scott, professor of pediatrics and director of the UCEDD's Pediatric Genetics Program, embarked on a project that provides the educational underpinnings for the new clinic. The ongoing effort focuses on developing methods and materials for educating clients and health care providers in effective life-long care for metabolic disorders. The project is funded by the federal Maternal and Child Health Bureau.

"We want to give young adults with inherited metabolic disorders the skills in self-care and self-advocacy that they need to function as independently as possible," explains Trahms. "And, we want to help community-based health care providers become more knowledgeable about these disorders so they can provide effective treatment."

To build the skills necessary for navigating the adult health-care system and living independently, each client who is ready for transition, and his or her family, works with a team of professionals that bridges both clinics. Together, they develop an individualized summary of needs and an action plan, known as a transition map. In addition to Scott and Trahms, the bridge team includes genetics counselor Robin Bennett and Dr. Michael Raff, senior fellow in medical genetics. Raff is an internist and medical geneticist who specializes in adult medical issues associated with inherited metabolic disorders.

With the aid of the educational materials developed by the project, the team provides training in medical and nutritional issues and counseling about other health-related issues, including sexuality and reproduction. The educational materials are designed to give an understandable, yet detailed, overview of each disorder--its cause, management and genetics. The team also works with clients to foster adult decision-making skills. Sue McDonald, a parent consultant, works with families to develop appropriate transition maps for these young adults.

As a client moves to the adult health care system, the Metabolic Genetics Clinic will provide the specialized services necessary to monitor his or her metabolic condition, but most health care needs will be managed by a primary care provider. Because inherited metabolic disorders are rare, many providers may be unfamiliar with the complex treatment regimes and other health needs associated with a particular disorder. A major function of the Clinic is to serve as an easily accessible resource for community-based providers who need information and training on managing the health needs of individuals with metabolic disorders.

Transition to the Metabolic Genetics Clinic for the first two groups of young adults began with informational group meetings that introduced clients and their families to the new clinic and marked the formal start of transition. The response was impressive, according to Trahms. "The capability and commitment of these young people and their families is remarkable. They've grown up together in the Biochemical Genetics Clinic and they are still growing together."

For more information about the Metabolic Genetics Clinic, call or email Cris Trahms at 206/685-1364 or ctrahms@u.washington.edu

It has been a year full of transition experiences for Molly McDonald--the model for the project to develop the Metabolic Genetics Clinic and the first young adult to make the transition from the Biochemical Genetics Clinic. She graduated from high school, planned and paid for a trip to Minnesota to visit relatives, landed a new job and is living in her own apartment. McDonald, who is 22, has argininosuccinic aciduria. Management of her disorder requires that she follow a strict low-protein diet. She makes full use of the support offered through the Metabolic Genetics Clinic, frequently consulting Trahms and Raff by email.

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