Using a multidisciplinary approach, the Division of Genetic, Genomic and Metabolic Disorders at the Children’s Hospital of Michigan provides expert diagnosis, follow-up, treatment and counseling for infants, children and adults with genetic or suspected genetic disorders.   The Division is staffed by board-certified clinical geneticists, board-certified genetic counselors, specially trained nurses and nurse practitioners, dietitians, a social worker and a clinical psychologist. Faculty members are boarded in clinical genetics, biochemical genetics and molecular genetics.

In addition to providing diagnostic evaluations for individuals suspected of having a genetic condition and genetic counseling services for those identified with genetic conditions, there are numerous other programs operated by the Division of Genetic, Genomic and Metabolic Disorders.  It is home to a newborn screening long term follow-up and treatment program for individuals diagnosed with an inborn error of metabolism following a positive newborn screen.  The Children's Hospital of Michigan operates one of the few Lysosomal Storage Disease Clinics and Pediatric Enzyme Replacement Therapy (ERT) programs in Michigan treating children with lysosomal storage disorders and other genetic conditions treatable with enzyme replacement.  The Division has also developed a Fetal Alcohol Syndrome Clinic for the diagnosis and management of children affected from intrauterine alcohol exposure.   

Genetic Disorders Services

Genetic, Genomic and Metabolic Disorders

The Children’s Hospital of Michigan is one of a few sites designated by the state of Michigan to provide diagnosis and follow-up for the Cystic Fibrosis newborn screening program.  Working closely with the Division of Pulmonary Medicine, the Division provides genetic counseling services to at risk families identified through newborn screening.  It also provides genetic counseling services for families followed through the Hemophilia Clinic through a collaboration with the Division of Hematology/Oncology.  Also in collaboration with the Division of Hematology/Oncology, the Division is also the only Pediatric Cancer Genetics clinic in the state.The Division works closely with the Detroit Medical Center (DMC) University Laboratories in molecular genetics, cytogenetics and biochemical genetics. The DMC is home to a biochemical genetics laboratory designated by the state of Michigan for the laboratory diagnosis, evaluation and long term monitoring for the newborn screening program.

The Division of Genetic, Genomic and Metabolic Disorders trains numerous students, residents and fellows from programs in the Metropoitan Detroit area and around the world.  It is a clinical rotation site for students from the Wayne State University Genetic Counseling Graduate Program.  Working with Wayne State University School of Medicine, it provides training and education for the combined Pediatric/Genetics Residency Program, the Medical Genetics Fellowship Program and is one of the few sites in the country offering a Medical Biochemical Genetics Fellowship program.

For further information or to schedule an appointment call (313) 745-KIDS or toll-free at (888) 362-2500.

Genetic Conditions & Treatments

The Division of Genetic, Genomic and Metabolic Disorders at the Children’s Hospital of Michigan evaluates infants, children and adults for diagnosis, genetic counseling and clinical management for a variety of reasons including but not limited to:
  • Developmental delay and/or mental retardation; autism
  • Inborn errors of metabolism
  • Lysosomal storage disorders
  • Skeletal dysplasias including Achondroplasia, Osteogenesis Imperfecta and others
  • Family history of genetic disorders
  • Known or suspected chromosomal disorders
    • Down syndrome
    • Turner syndrome
    • Trisomy 13 and 18
  • Single Gene Disorders
    • Autosomal dominant conditions
    • Autosomal recessive conditions
    • X-linked recessive conditions
    • X-linked dominant conditions
  • Birth defects
  • Fetal Alcohol Syndrome

Read our Genetic Disorder Testimonials

Julia's Story

Jun 6, 2019

Local Teen Featured in Seventeen Magazine to Raise Awareness of Cystic Fibrosis

Local Teen Featured in Seventeen Magazine to Raise Awareness of Cystic FibrosisWhen 19-year-old Julia Ruggirello was just six-weeks-old, doctors at the Children’s Hospital of Michigan, diagnosed her with failure to thrive. Two weeks later, tests confirmed that Julia had cystic fibrosis (CF), an inherited chronic disease that affects the lungs and digestive system of about 30,000 children and adults in the United States.

Despite being diagnosed with the disease, which requires that she wear a breathing vest several times a day, along with many medications to treat her disease, Julia feels lucky.  On average she is hospitalized two or three times per year, often due to lung complications typically brought on by a cold.
The disease, Julia will tell you, does not define her.  “I would love to tell any parent whose child is newly diagnosed with CF, to remember they are still just a child and parents should encourage them to be active and pursue what they love to do,” she says.

Julia has met a lot of people over the years that have provided inspiration including  former Children’s Hospital of Michigan patient, Emily Schaller, who runs marathons, plays in a band and raises money for CF .“I was so inspired by her, and decided to start running and take more control of my health by taking more health supplements and being as healthy as I can be.”  In addition to nurses and doctors at the Children’s Hospital of Michigan, who have been instrumental in helping her manage her disease while doing normal teen activities, she credits exercise and a healthier lifestyle with keeping her out of the hospital.

In fact, Julia has been an extremely active teenager.  She was class president at Warren Woods Tower High School in 2010, and active in the National Honor Society, student council, bowling team and volleyball team her freshman year. 

Julia also had a dream that is shared with millions of other teenagers and her dream became a reality during her senior year in high school.  “I had a dream to be on Seventeen Magazine, not only because that would be so cool to be featured, but I wanted the opportunity to raise awareness of cystic fibrosis with other teenage girls who read the magazine,” says Julia.  Her request was made through the Make-A-Wish Foundation when she was 14 years old.

Fast forward three years. Julia is busy with her senior year but needs to be hospitalized to stabilize the allergic reaction she experiences from the necessary CF medications she receives.  Just then, she gets a phone call from the Foundation.  “The magazine wanted to feature me in their September issue and fly me and my family including my parents, sister and younger brother, who also has CF, to New York City.” Fortunately, she was able to push treatment ahead for a few days. Despite her lung function being down, she decided this was a once in a lifetime opportunity that she would not miss out on.

The ultimate four day trip included an all day hair and makeup session, a stretch limo, luxury hotel and sight seeing for her family.  “It was an incredible experience but most importantly it allowed me to share my story of hope and survival and spread the word about the need for CF research,” says Julia.

Deborah Hachey, RN, cystic fibrosis nurse coordinator, at the Children’s Hospital of Michigan, says Julia and her family have been very active in raising awareness of CF and the more awareness there is, the better chance advances will be made to better manage the disease.  “Today, the average life expectancy for a CF patient who has survived into adulthood is 37 years.  This represents a dramatic increase over the last three decades,” she says.

Julia is now attending Michigan State University on a partial scholarship related to cystic fibrosis and she plans to use her experience to help others in need.  I am pursuing special education and hope to teach in Detroit Public Schools.  “Despite and perhaps because of my disease, I appreciate life everyday and hope to help others that may have special needs too.”