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Learn More About Rare Disease Day With Cook Children’s Health Care System!

by Eddie Rayner

Rare Disease Day takes place on the last day of February each year. The main objective of Cook Children’s Health Care System (CCH) during that month is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. This year CCH has one more mission, to bring more awareness amongst the Middle Eastern moms.

M. Scott Perry, M.D., medical director of Neurology and the Genetic Epilepsy Clinic at Cook Children’s, discusses some of the rare diseases he cares for and how bringing awareness to these conditions can impact patients with other conditions.

Two of the most common conditions M. Scott Perry is treating are Tuberous Sclerosis Complex and Dravet Syndrome. Tuberous sclerosis presents with a variety of tumors that can grow in the heart, brain, kidneys and eyes – as well as skin manifestations, seizures, and delays in development. Dravet syndrome presents with seizures – often prolonged seizures with fever initially which evolve to multiple other seizure types including tonic – clonic, absence, myoclonic and “drop attacks” by age 2 years. Children are often normally developing initially but demonstrate a slowing or decline in development after onset of their seizures. For both of these conditions, epilepsy is a major component and often seizures are resistant to available treatments – thus one reason for continued research.

Cook Children’s team takes the rare diseases very seriously and actively participates in research for rare conditions. Recently, CCH participated in trials of both Epidiolex and Fintepla for Dravet syndrome and Lennox Gastaut syndrome. This year, the team is preparing to launch various drug trials. Additionally, they’re also planning to start a trial for CDKL5, another rare form of genetic epilepsy.