When to Refer a Patient to the Neurogenetics and Rare Disease Clinic

Treating rare diseases is often like putting together the pieces of a puzzle. Clinical presentations of rare diseases are not always clear – individual symptoms may lead a patient from one specialist to another. The goal of Dr. Lulla's clinics is to provide advocacy and hope for patients who have long been looking for answers. 

“Often, a child with a rare disease will have multiple organ systems involved in addition to the brain," said Dr. Lulla. “Sometimes, they are seeing multiple specialists. But what is really important for them is to have a specialist in place who zooms out and looks at the bigger picture. I don't look at the body as 'this is just the heart' or 'this is a problem with the stomach,' but I'm looking at you as a whole per​son and connecting the dots to find the bigger picture." 

Boys Town Neurogenetics and Rare Disease Clinic provides Omaha and the surrounding regions a place where patients can receive this type of comprehensive assessment. With each new patient, Dr. Lulla conducts a comprehensive assessment that includes a thorough physical examination, any necessary lab work and a review of the patient's family history. Supporting him is a dedicated neuroscience genetic counselor who helps the patient and family through a very detailed three-generation family history. Plus, the clinic works on authorizing tests with the insurance companies, so families don't end up with unexpected bills.