From the moment sisters Lena and Vena were born – about four years apart – both girls had uncontrollable, life-threatening seizures. For years, the girls’ parents, Nazar and Sana, searched for answers to their daughters’ debilitating neurological condition, eventually ending up at Children’s Hospital Colorado. At the hospital, Scott Demarest, MD, a neurologist who serves as the Precision Medicine Institute’s clinical director, began an unrelenting search for answers, conducting a series of DNA sequencing. 

After nearly a decade of searching for answers, Dr. Demarest discovered that both girls had a newly identified, extremely rare genetic mutation that caused their cells to attack and degrade vitamin B6, causing severe harm to the girls’ bodies. Lena and Vina began taking an active form of vitamin B6 and within a few months of implementing this new treatment plan, both girls stopped having seizures altogether, except for the rare occasion.

Today, Lena, 17, and Vina, 14, are recovering many of the cognitive and developmental functions they lost – including reading, speaking, and taking part in more physical activities. They participate in physical therapy, occupational therapy, and speech therapy and receive many other services. The sisters are making significant strides in school, and their family can finally look beyond helping them survive one day at a time.