I read a news article this week about the first hemispherectomy performed in Ireland at the Temple Street Children’s Hospital in Dublin. This surgical technique first used for RE in the 1950s by Theodore Rasmussen in Montreal, Canada has now, 60 years later spread around the world to help children impacted by RE.
For some reason, I am always struck by the global occurrence of RE. Despite its rarity, RE receives global coverage due to the hemispherectomy surgery. I have read about cases all over the world, in every corner of the globe. RE know no boundaries nor does it discriminate based upon race or even age. This global trait is not always the case for rare diseases. Can you imagine what it is like to have a child with RE in a third world country where the access to modern medical care is unavailable and epilepsy is misunderstood? Despite its devastation and global presence, RE is the rarest of the rare and heretofore neglected by medical researchers as evidenced by the 60 year run of the hemi as the treatment of choice.
The definition of rare disease varies around the world. The Rare Disease Act of 2002 and the US Orphan Drug Act defines a rare disease or condition as one that impacts less than 200,000 persons in the US or about 1 in 1,500 people. In the US that translates to less than 1% of the population. Japan and Europe have slightly different definitions, but regardless of the definition, RE is rare as the article from Ireland states it impacts perhaps 1 in 10 million people. The 10 million figure probably understates the incidence of RE as most researchers peg its occurrence at 1/500,000 to 1/ 1,000,000. Until recently the drive for the cure for a rare disease was inversely related to its occurrence.
RE is a disease characterized by extreme brain inflammation. Inflammation is a natural process by which the body protects itself from infection and foreign substances. In some diseases our body’s defense system goes haywire inappropriately attacking itself. These autoimmune diseases include arthritis, psoriasis, Crohns and lupus. In the case of RE, the body attacks one hemisphere of the brain. Brain inflammation is a hot topic in the epilepsy community and its role in seizure generation is now being widely studied. If we can unlock the inflammation process in RE we will increase our knowledge of autoimmune processes.
Despite its global practice and while helpful to relieve seizures, our view is that with respect to RE the hemispherectomy is a blunt tool that should be discontinued in favor of non-invasive treatments. The outcomes of this surgery, permanent partial blindness, hemiplegia, and cognitive limitations should not be the tradeoff for seizure control. RE is fixable without taking out half the brain.
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