Type of Disease: Ultra-rare Mitochondrial Disease caused by an DARS2 mutation also called Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL).
Current Age: 13 years old
Symptom Start/Age of Diagnosis: Started with symptoms at 3 years old and was diagnosed at 3.5 years old.
Current Symptoms: Ataxia, hand tremors, impaired gait.
Interventions: Mitochondrial cocktail of COQ10, Vitamin C, Riboflavin and Carnitine
If you or your family is affected by LBSL, please contact the A Cure For Ellie Foundation at firstname.lastname@example.org or you may visit their social media pages below.
Ellie appeared healthy at birth and initially met all her developmental milestones. However, at around age 3 her parents noticed she wasn't as coordinated as other children. She began falling and experiencing pain in her feet. After a nine month odyssey, her parents finally received the formal diagnosis of LBSL (Leukoecephalapothy with Brainstem and Spinal Cord Involvement and Lactate Elevation) - also known as DARS2.
Ellie loves animals, enjoys horseback riding, swimming and hanging out with friends. She hopes to one day be a veterinarian.