If a patient or a parent is concerned that they or their loved one has unexplained symptoms, is undiagnosed, or has been misdiagnosed, based on the what they are feeling and experiencing, they should have a conversation with their doctor. The UnX patient screening tool does not replace the conversations patients have with their doctor, they are designed to help inform those conversations and make doctor visits more meaningful.
Because rare disease and genetic disease can be complex and difficult to diagnose, the UnX tools were developed to help determine the probability that a patient may be suffering from a rare or genetic disease. Instead of experiencing a long journey with countless visits and tests, the aim is to quickly identify possible explanations. The sooner in the diagnostic journey that a patient and doctor decide to explore genetic testing to find answers for the complex symptoms and conditions, the sooner the patient can be put on the pathway to treatment and relief.
In other words, the goal for the UnX screening tools is relief. Relief for the patient, the parent or the family, and for the physician. Knowing is better than not knowing. Ending the diagnostic journey is better than continuing indefinitely.