Disease Registry Crucial in Diagnosing Baby’s Rare Disorder
| Feb. 19, 2016 | It’s about connections.
Diagnosing rare diseases requires matching patient symptoms to descriptions of similar cases. Treating them often requires connecting with physicians in other states and countries.
That’s where disease registries —special databases that contain information about people diagnosed with specific diseases — become crucial.
For Sarah Mulkey, M.D., Ph. D., an assistant professor in the Department of Pediatrics, Section of Neurology in the University of Arkansas for Medical Sciences College of Medicine, an online registry contained just the information she needed to provide her tiny patient with the right treatment.
Mulkey, a pediatric neurologist, was caring for a newborn who appeared to be having seizures. The baby’s movements resembled that of a baby having seizures, but the electroencephalogram (EEG) readings revealed that the abnormal movements were not seizures. Genetic testing showed the infant had a KCNQ2 mutation.
KCNQ2 is the code designating a mutation on the human genome for a type of potassium channel. Someone with the more common KCNQ2 variant has potassium channels in his or her nervous system which don’t close properly. Mulkey’s patient however, had a different variant that in recent studies showed the potassium channel to be “too open,” Mulkey said.
Mulkey reached out to a child neurology colleague in Boston who put her in contact with a neurologist in Houston that studies KCNQ2 and has a patient registry or database called the “Rational Intervention for KCNQ2 Epileptic Encephalopathy (RIKEE)” database. From this registry, Mulkey learned that there have only been a few cases worldwide that have the same variant as Mulkey’s patient.
With the help of the Institutional Review Board-approved RIKEE registry, Mulkey entered into communications and discussion among the physicians involved in those cases and an international, collaborative treatment team came together to better understand the phenotype of this KCNQ2 variant.
Being able to learn what medications have been tried on previous patients with this variant meant Mulkey, her patient, and the patient’s family didn’t waste time trying ineffective treatments, along with potential risks from side effects, on medications that weren’t going to work. One physician that Mulkey connected with through the registry suggested a currently available drug that helped to alleviate some of the patients’ symptoms.
Genetic testing for KCNQ2 and similar seizure disorders wasn’t readily available as recently as five years ago. Having that data available and then being able to input it into an international registry enables very specific matches of medical cases that have significantly improved the clinical process.
“It’s helpful for a family to know why their child has a problem,” Mulkey said. “If this child had been born ten years ago, then you wouldn’t know exactly what it was and would be trying treatments without a beneficial response. Knowing the cause of seizures can enable targeted treatments. Genetic testing really is changing medical practice for the better,” says Mulkey.
Mulkey also recently cared for a newborn with a novel KCNQ2 variant, not previously identified or in the registry that had the more common symptoms of Benign Familial Neonatal Epilepsy (BFNE). Though Mulkey’s patient was successfully treated, by including the patient in the registry, it will enable other physicians and families to understand the phenotype of this newly found variant.
“These cases have taught me that for rare diseases it is important to reach outside our immediate colleagues and medical community to collaborate with physicians we do not know,” Mulkey said. “My initial phone call to an outside colleague led to an international collaboration that will help other patients and ultimately lead to better and more effective treatments for neonatal seizures.”
For more information visit: http://kcnq2.org/how-rikee-helped-treat-a-kcnq2-patient/