Lucia Vaccaro's family races for a treatment for Rett syndrome
Lucia Vaccaro's parents say a gene therapy trial was closed to her because of her age, and the one approved drug in Canada does not treat the root cause.
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When Lucia Vaccaro was two years old, her parents began to notice a change in their happy, active toddler. She had been healthy at birth and had met all her developmental milestones, until about 30 months, when she began losing focus. Soon after, she had trouble coordinating her movements and eventually found it difficult to eat on her own.
After about four months of back and forth with their pediatrician, Joseph and Rana Vaccaro took their daughter for out-of-pocket genetic testing. It confirmed what they suspected: Lucia has Rett Syndrome, a rare disorder that occurs almost exclusively in girls. Rett Syndrome affects roughly one in 10,000 people and is usually caused by a mutation of the MECP2 gene on the X chromosome. There is no cure.
The parents described the disorder as a neurological "lightning strike" — a spontaneous genetic mutation that takes away a child's ability to speak, walk and use their hands. "She used to joke and play with us and do peekaboo. Everything was just normal. But she started becoming more and more withdrawn, and then her body started getting weak," Rana said in an interview.
MECP2 acts like a "boss" for other genes in the brain, controlling how brain cells work and communicate, according to the Ontario Rett Syndrome Association. When the mutation stops it working properly, brain signalling breaks down, making movement, speech and other functions harder to control. Lucia's specific mutation means her disease progresses more slowly than in other girls, but her parents say it will ultimately be worse in the long run.
Lucia is five now. She is relatively stable, and her parents manage her symptoms as they arise. She has a schedule of occupational, physical and speech therapies, neurology appointments and other medical testing, almost all of it at CHEO. None of those treatments address the genetic disorder itself. The parents say treatment for Rett Syndrome in Canada is largely about managing symptoms, and any targeted genetic therapy is either inaccessible or fleeting.
The family spent years pushing for pediatric gene therapy clinical trials to come to Canada. In December, Lucia was selected for an experimental trial in Montreal, which they considered their only hope of treating the root cause of her disorder. Then the trial's parameters changed and Lucia was dropped because of her age. The parents fought to let her participate anyway, but the company running the trial left the country, and the family was back at square one.
The only other option is trofinetide, approved in 2024 as the first and only targeted treatment for Rett Syndrome in Canada.
