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.
For Anna, rising above the challenges of having a rare chromosomal condition takes spirit and determination. Step-by-step, she’s defying the odds.
Prader-Willi syndrome is a genetic condition that occurs in about 1 in every 12,000-15,000 people. Signs and symptoms that may occur among individuals with Prader-Willi syndrome include:
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.
Children’s Minnesota and five other children’s hospitals formed the Sanford Children’s Genomic Medicine Consortium, a collaboration to advance pediatric genomic medicine.
Cooper and Mallory Fasching were diagnosed with a genetic mitochondrial disorder, which makes them unable to walk and talk. But it hasn't stopped them from having a positive impact on their family, including older brother Hudson, who plays hockey for the NHL's Buffalo Sabres.
Jan 01, 1970, 12:00 AM – 12:00 AM, Cottage Grove
In September 2004, our beautiful daughter Kylie was born. Five months later, our world was turned upside down. Our baby girl started having seizures and was diagnosed with a rare genetic disease. During the first three years of her life, we spent countless days in the hospital, watching as Kylie suffered from thousands of seizures and was subjected to many tests and procedures.
Two-year-old Madelyn has been treated at Children's Minnesota and Minnesota Epilepsy Group for the specific type of epileptic seizure.
The Twin Cities' second annual 22q at the Zoo takes place Sunday, May 22, at the Minnesota Zoo in Apple Valley.