Hope for Families of Children with Undiagnosed Diseases
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 Disease Clinic at Nicklaus Children’s is dedicated to helping such families identify the genetic condition affecting their child in hopes it may lead to diagnosis and treatment.
The clinic has access to new genetic testing technologies that are not commonly available. These new technologies make possible the detection of genetic alterations not typically found by commonly used clinical genetic tests.
Who is a Candidate for the Clinic?
Candidates for the clinic usually have two or more of the following characteristics or circumstances:
- 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 abnormal tests suggesting the body is having trouble processing certain 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.
How to Get Started
To apply for participation in the clinic please schedule an appointment with a NCPS genetics provider by contacting 786-624-4741. We will request that you or your doctor provide copies of the patient’s medical records and results of any tests previously performed that relate to the current symptoms. It is important that those records include the clinical notes from the genetics specialist who manages the child and all results of genetic tests performed.
Once we have all your clinical information, a team of genetics specialists will meet to discuss the case and determine which, if any, of the new testing offerings is the most likely to reveal a diagnosis. Once the team has determined this, the family is contacted to schedule an appointment with the clinic.
Patients who might benefit from the clinic but have not yet met the criteria (such as completed clinical testing) will be referred to the Nicklaus Children’s Genetics Clinic for an appropriate clinical workup. Once this step is completed, the patient may be reconsidered for the Undiagnosed Disease Clinic.
About the Undiagnosed Disease Clinic
The clinic takes place monthly. Here’s what participants can expect:
- You and your child will be seen by a genetics specialist who will collect all the medical information, including current symptoms, past medical conditions, and medical history of other family members. A complete medical exam will be performed.
- The clinical team will discuss with you the diagnostic strategies and refer to other specialist if needed. They will explain what to expect, how new tests compare with previous tests and potential risks, benefits and limitations of genetic testing, and what’s involved with the testing process.
- In some cases, the team will recommend other family members to come to the clinic and receive genetic testing. This recommendation will be made if the team believes this may support finding a diagnosis for your child.
The Testing Process and Results
Testing: Most patients will need to provide a blood/ buccal or saliva sample for use in diagnostic testing. For most patients, the sample will be collected on the same day as the clinic visit. However, for some situations, the collection may be scheduled for another day, depending on insurance approval for the test.
Results: Testing results will be shared at a follow-up appointment at the Undiagnosed Disease Clinic. The clinician will discuss the clinical significance of the results, available treatments, clinical trials, and provide genetic counseling about the meaning of the child’s test results, what to expect in the future, inheritance patterns, and risk for other family members to have the same condition. Some patients may need to undergo additional testing.
Next Steps: For some patients, psychological and pharmacogenomics evaluation (testing for specific genes to determine how the child’s body will react to certain medications) and counseling will be provided. Based on the recommendations, future doctor visits can be coordinated. With family consent, a summary letter may be sent to the child’s primary physician.