On April 11, Miami-based Nicklaus Children's Hospital announced via a press release that it has launched a new clinic for families searching for answers for a child with a rare or undiagnosed disease. The clinic, called the Undiagnosed Diseases Clinic, will occur monthly and offer the most current genetic testing technologies for eligible patients.
The press release states that “The clinic has access to new genetic testing technologies, including whole genome sequencing and metabolomics. These new technologies make possible the detection of genetic alterations that are not typically identified by more common clinical genetic tests.”
That said, “Candidates for the clinic usually have two or more of the following characteristics.
- Inborn anomalies (differences) of the heart, kidneys, brain, hands, feet or any other parts of the body.
- A lab test that suggests a genetic disease, such as an abnormal newborn screen, or suggesting the body is having trouble processing certain foods or substances.
- Abnormal response to standard therapy, or unusual presentations of certain medical conditions.
- Low muscle tone (hypotonia).
- Seizure disorders that do not respond to medication or require multiple medications.
- Undiagnosed neurodevelopmental conditions, including difficulties with language and speech, motor skills, behavior, memory, learning or other neurological functions.
- Abnormal growth parameters, including height, weight or head size (too big, too small for their age and gender).
- Have visited a genetic specialist and undergone standard clinical genetic tests, without a diagnosis.”
Families can contact Nicklaus Children’s Pediatric Specialists genetics provider to schedule an appointment. The clinical team will request medical records and results and then genetics specialists will contact the families with more information. The clinic is meant for those patients still pending a diagnosis and once a diagnosis is determined, families and children will be referred to appropriate specialists.
Parul Jayakar, M.D., director of Clinical Genetics and Metabolism was quoted in the release saying that "For some families of children with rare diseases, the search for a diagnosis can be a prolonged and often frustrating experience. These families may have already visited multiple specialists and undergone a variety of tests in hopes of finding answers. The Undiagnosed Diseases Clinic is dedicated to helping such families identify the genetic condition affecting their child in hopes it leads to diagnosis and treatment."
