NEW BERLIN, WI — A 6-year-old New Berlin boy with a rare genetic disease received his first round of a newly FDA-approved treatment, giving his family renewed hope for his future.
Related | New drug approved by FDA could save New Berlin boy suffering from terminal Hunter Syndrome
Rory Jaskulski fights a rare genetic disorder called Hunter syndrome. The disorder impacts his ability to break down certain molecules, which are deposited back into the body, become harmful, and lead to physical disabilities and cognitive delays. The progressive disease carries a life expectancy of only 10 to 20 years, and Rory's autism has left him non-verbal.
Last month, TMJ4 brought you his story when his mother, Kylie Jaskulski, reached out to advocate for FDA approval of a new medicine from manufacturer Denali, designed to treat the progressive aspect of the disease.
Watch: New Berlin boy with a rare genetic disease receives his first dose of a newly approved FDA treatment
"These diseases are ugly, they're awful," Kylie Jaskulski said.
Since that story aired, the FDA approved the drug. On Friday, three and a half weeks after the approval, Rory became one of the first to get the new medicine.
"The drug got approved and my son got the treatment, and on April 17 was his first treatment, the first dose of the medication," Jaskulski said.
She expected the process to take much longer, which was time she did not have.
"We needed it to happen before Rory got worse, so the fact that this got approved before Rory progressed, it's nothing short of a miracle," Jaskulski said.
"Stories like Rory’s are a powerful reminder of why we're focused on advancing new treatments for neurodegenerative diseases, lysosomal storage disorders and other serious diseases," wrote a Denali spokesperson in an email to TMJ4. "The Hunter syndrome community has been waiting nearly 20 years for a new FDA-approved option. This moment represents an important step forward for individuals and families living with this devastating disease."
The family still has a long road ahead as they wait to learn how much the new medicine is working.
"I went from planning my son's funeral essentially and knowing that I was going to outlive him to now wondering what the future could be like, and there's no words," Jaskulski said.
As other gene therapies come up for FDA approval, she hopes more children with genetic disorders experience her newfound hope.
"I'm really praying for those families, I'm really praying for those kids because every one of those children deserve to have the same opportunities that my son has now been given," Jaskulski said.
This story was reported on-air by a journalist and has been converted to this platform with the assistance of AI. Our editorial team verifies all reporting on all platforms for fairness and accuracy.
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