As a new mom, Tonya was feeling quite proud of herself for finally bundling her little 4-month-old baby girl, Natasha, into the stroller and taking her for a walk. While on the walk, though, Natasha went stiff as a board, turned red and then blue. Frantic, Tonya flagged down a passerby and had her call 911. Once they arrived at the Alberta Children’s Hospital, the diagnosis of epilepsy was confirmed when Natasha had another seizure while being examined.
After a short stay in the hospital and several tests which revealed “nothing remarkable” (ie. no tumors or lesions), Natasha was sent home on meds and her worried parents hardly slept as her seizures became more frequent and more unsettling. After each seizure, Natasha would be so exhausted she would just sleep the day away. There were no more smiles. No more rolling over. Tonya and David were heartbroken to watch their baby girl slip away from them.
After a couple gruelling weeks, Tonya had Natasha at a check-up with her neurologist, Dr. Buchhalter who witnessed one of Natasha’s seizures first hand. Right then he told her they were not going home until they found a med that would get the seizures under control. It meant she could sleep knowing that the care team would come running if her oxygen levels went too low or was struggling. A new med was found and began to work immediately. It wasn’t long before Natasha had her second “first smile” again and everyone shed tears of joy to see her back.
The med continues to work and Natasha’s epilepsy is relatively well controlled, however, Tonya noticed that her baby girl wasn’t reaching milestones like her baby peers. They consulted with genetics and had her entire exome sequenced which revealed a very rare genetic disorder known as SCN8A…about 100 children in the world have this diagnosis. The genetics team keeps Natasha’s report close by and is vigilant to look for new answers.
While there is still a long road ahead for this family and their little girl, Tonya is beyond grateful for the incredible care and expertise available for her right here at the ACH.