Children’s Minnesota offers a rare disorders clinic for children with an undiagnosed condition. Each month we bring together a multidisciplinary team of experts to review a child’s medical record to help determine what additional tests might be recommended to find a diagnosis and treatment options. Often times, families have been on a diagnostic odyssey going from one specialist to another without an answer.
The majority of newborns in the state with abnormal blood spot screen results are seen at the Metabolic and Newborn Screening Follow-up Program at Children’s Minnesota. The Metabolic and Newborn Screening Follow-up Program offers initial confirmatory evaluations and follow-up care for children whose blood spot screens are abnormal or have a presumed or confirmed inborn error of metabolism. Our team of experts includes biochemical geneticists who specialize in metabolic disorders, genetic counselors, a nurse and a metabolic dietician.
Dr. Gunter Scharer, medical director of the Children's Minnesota genomic medicine program, tells us more about genomic medicine and explains what parents need to know about the new Sanford Children's Genomic Medicine Consortium.
Our genetic counselors are available to help you determine whether a genetic consultation may be helpful. Children’s Physician Access is available 24/7 with a representative on the line throughout the call to assist with referrals, consultations and admissions and to provide general information.
When you want answers, you want to talk to experts. They work as a team to evaluate, diagnose, and treat your child. And every family who comes through our clinic door at Children's Minnesota meets with a genetic counselor as well as a board certified geneticist or advanced practice registered nurse with additional training in genetics.
At Children's Minnesota, we focus on research and innovations that make a difference in the care of our patients. From improving day-to-day quality of life for children and teens, to developing new pain management approaches and adopting cutting-edge technologies, our research is completely kid and family-focused.
The genomic medicine program specializes in helping children with complex needs and birth defects on every step of their journey. We help families searching for the causes of their child’s medical problems as well as those who have already received a specific diagnosis and are looking for support and treatment.
Andrew Schmidt was the first person in Minnesota to be diagnosed with Pallister-Killian syndrome, an extremely rare genetic disorder that causes cognitive delays.