Canavan disease is an isolating condition. It’s a rare disorder caused by a genetic mutation that can be passed on in families. It damages nerve cells, so they’re not able to send or receive the correct messages. This can cause seizures, paralysis, blindness, deafness, and many other symptoms. Often, patients only live to age 10. To learn more about it, click here.
Seven-year-old Liam Fischer, who suffers from Canavan disease, has never been able to speak. His mother, Midlothian resident Amy Heller, tells the Richmond Times Dispatch that she had always envisioned a family full of kids running around, calling her mom– it was a painful and difficult realization after Liam’s Canavan diagnosis that their life would look very different than what she had planned for.
Heller knew that Liam could understand the world around him, but it was impossible for him to respond. The cognitive portion of his brain was present and active, but Heller had no way of knowing exactly how much he was picking up around him. Liam couldn’t communicate, or support his body on his own– so many of the messages that tell the body what to do were interrupted by Canavan disease.
However, Shannon LaSpina, a physical therapist from Richmond Hope Therapy, a program provided by Bon Secour’s Richmond Health System, changed everything for the family when she taped a laser pointer to a bill visor. LaSpina holds Liam’s head straight, while he moves the laser pointer so the point moves to select letters on a letter board opposite from him. Someone stands by the board and reads what letters he has chosen.
Nobody knew whether or not this would work, because nobody knew if Liam could read or spell. They had read books to him, and exposed him to language in school, but it was unclear what was or wasn’t retained. Liam’s mother asks him to use complete sentences, and he spells out:
“I-C-A-N-T-A-L-K.”
Liam has been present and engaged the whole time, even though he hasn’t been able to communicate.
The first thing he told his mother is that he loves her. The first thing he asked his dad is:
“A-R-E-Y-O-U-P-R-O-U-D-O-F-M-E?”
Liam’s father kissed his forehead, told him he’s amazing, and explained exactly how proud he is.
Although Liam’s parents always loved him and believed he was there, silently engaging with the world, they have met a whole new side of him. They know he can be a trouble maker at times. Liam talks about his bike, which he loves to ride– it’s a specialized tricycle, which allows him to pedal, while his parents push. He told his teacher, who specializes in students with different abilities, that he wishes she was his mom– Amy is reportedly not offended. He even gave a presentation to a fifth grade class, telling them not to bully people who are different than them.
Liam’s mother holds out hope for a treatment. Even though not many children with his condition live past 10, she believes that researchers will find a cure. It’s true, there’s been promising research. In 2016, a gene therapy effectively cured a mouse model of Canavan disease. However, there is a big problem: since Canavan disease is so incredibly rare– with only about 300 known cases in the world– it’s hard to find funding. The research is hopeful, but the financial resources are scarce. Paola Leone, a leading Canavan disease expert, explained to the Richmond Times Dispatch that she has some funding from the National Institutes of Health, and some funding from charities, but not many are aware of the disease.
Still, Liam’s parents, teachers, therapists, and classmates use the uncertain time left to get to know the boy who loves bikes and hates bullying, who pushes limits and has a mischievous sense of humor. His mother explains, they need to find a cure, because he just has so much left to learn.
To read more in the Richmond Times Dispatch, click here.
