Rare Disease Report

8-Year-Old Starts Campaign to Change Her Rare Disease's Name

OCTOBER 19, 2016
Andrew Black
If only there was a government approved rule that rare disease names can’t exceed two syllables, it would save some patients a lot of time. When 8-year-old Ellie McGinn is asked about her rare brain disease she can barely get the name out correctly, so her foundation wants to change that.
The A Cure for Ellie Foundation launched their new campaign “The Ellie Challenge” in an effort to help change the name of her rare disease tongue twister, Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation, into something more pronounceable for its younger patients.
Ellie (diagnosed in 2011) took to Facebook and Twitter (#EllieChallenge) last week to issue the challenge of pronouncing “Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation” correctly on camera in 1 try for the chance to rename it.
Those who fail have been asked to make a donation of any size to fund critical research. All who participate are asked to post their videos on Facebook or Twitter and issue the same challenge to 3 other people that they know to help spread awareness.
To find out more or to make a donation, visit http://acureforellie.org/

About Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is characterized by slowly progressive cerebellar ataxia and spasticity with dorsal column dysfunction (decreased position and vibration sense) in most patients. The neurologic dysfunction involves the legs more than the arms. Many affected individuals become wheelchair dependent in their teens or twenties.
The tendon reflexes are retained. Deterioration of motor skills usually starts in childhood or adolescence, but occasionally not until adulthood. Dysarthria develops over time. Occasional findings include: epilepsy; learning problems; cognitive decline; and reduced consciousness, neurologic deterioration, and fever following minor head trauma.

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