REDONDO BEACH, Calif. — Kristin McKay is doing everything she can to keep a smile on her 4-year-old son Charlie’s face.
Charlie was born with Hunter syndrome, a rare genetic disease where the body can’t break down certain sugar molecules.
During a treatment, Charlie suffered a hypoxic brain injury which further impacted his speech and mobility, McKay said.
The disease affects a child’s organs, their physical and mental development and is diagnosed in about one out of 170,000 boys. Over time, the condition can deteriorate a child’s body, leading to a shortened life expectancy of 10 to 20 years, according to the Cleveland Clinic.
McKay said her brother, who had the same diagnosis, died at 19.
“There are days where the fear and some of the sadness, the grief of the things that he can’t do and those sort of outlooks, they can be overwhelming. But for the most part, his happy little face just keeps me going,” McKay said.
She said she was just 20 weeks pregnant when her doctors detected the disease.
“I remember I was in my car at a gas station when I got the phone call and it was awful. But, I really just wanted to be in the solution and so I immediately went home and I started looking up what’s changed. Is there new science or something out there since my brother’s passing?" she said.
Now, McKay works with the nonprofit Project Alive that connects families battling the same diagnosis, pushing for new therapies to stop the progression of the disease and to detect it early.
Kim Stephens is the president of the organization.
She said Hunter syndrome was recently added to the Secretary of the Department of Health and Human Services Recommended Uniform Screening Panel.
“The hope is that if we get these kids early enough, we can get it before the damage is done to their body and that’s about as close to a cure as we can do is to get them in treatment,” Stephens said.
While McKay and her husband can feel time slipping away, she’s doing her best to focus on the time they do have.
“I just, for the most part, want to spend my days doing all the little things that make him smile and all the little things that make him happy because that’s really what I have in my power to do for him today,” she said.