Tobin, a girl with Canavan disease

Tobin is a young girl with Canavan disease, an extremely rare genetic disease affecting muscular development that begins in infancy and progresses rapidly.

Over the kitchen window in the Iowa cottage where Tobin lives with her parents, Meghan and Heath, there is a plaque which reads, “Love Like There is No Tomorrow.” It is a fitting motto for this home, which is full of love for Tobin. With Canavan, there is nothing certain about tomorrow and what it may bring.

At 2-weeks-old, Meghan noticed that Tobin’s eyes were twitching, a condition known as nystagmus. Her pediatrician told her it was a sign that Tobin’s central nervous system was not developing properly. Meghan had also noted how stiff Tobin’s body was from birth and how she didn’t cry when she was born. She pushed Tobin’s physicians to evaluate her further. At her three-month check-up things were worse. Tobin’s physician sent her to an ophthalmologist who in turn sent her to a neurologist at the University of Iowa. There they admitted Tobin for further testing at the University of Iowa Stead Children’s Hospital. Tobin’s two day stay included an MRI, 24-hour EEG monitoring, a spinal tap and multiple blood tests. A urinalysis sent to the Mayo clinic came back with a diagnosis of Canavan’s disease.

When Tobin received the diagnosis of Canavan Disease, her parents were devastated. They had never heard of Canavan before. Eventually they were introduced to the advocacy group Canavan Research Illinois. Tobin’s parents say the other families they met through Canavan Research Illinois helped them respond and adapt to this challenging disease.

“It’s really hard to get a fatal diagnosis [for] your child and not know anything,” Meghan said. “But those parents, they know what you’re going through. You can talk to them. Because I can’t talk to my friends about it. They don’t understand. But I can be open with the other parents and be like, ‘This is how I feel today,’ and, ‘Is this normal?’ And everybody’s like, ‘Yep. We’ve all gone through that. It’s fine. Just breathe and go day by day.’”