Nicklaus Children's Hospital this month has launched a new clinic dedicated to assisting families seeking answers for a child with a rare or undiagnosed disease. The Undiagnosed Diseases Clinic, which occurs monthly, offers the latest genetic testing technologies for eligible patients.

"For some families of children with rare diseases, the search for a diagnosis can be a prolonged and often frustrating experience," said Dr. Parul Jayakar, Director of Clinical Genetics and Metabolism. "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."

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.

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 who wish to have their child considered for the clinic should schedule an appointment with a Nicklaus Children's Pediatric Specialists genetics provider by calling 786-624-4741.

The clinical team will request the patient's medical records and results of any tests previously performed that relate to current symptoms. Once all information is received, the genetics specialists will discuss the case and determine if new testing offerings may reveal a diagnosis. Families will then be contacted about scheduling an appointment or may be offered other genetic screening options.

The clinic is exclusively for those still pending a diagnosis. When a diagnosis is determined, children will be referred to appropriate specialists for consideration of future treatment opportunities.

For more information, visit our Undiagnosed Diseases Clinic page.

 

Source:prnewswire.com

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