Family of SoCal boy with Hunter syndrome that has no known cure fights for more effective treatments

As Kristin McKay and her family celebrate another holiday season with their beloved son Charlie, they do so with the understanding that because he has a rare genetic disorder known as Hunter syndrome, they’ll never know which Christmas may be his last.

“It primarily affects boys,” explained McKay, who’s the CEO of a nonprofit called Project Alive, which works to expand access to life-changing treatments for those impacted by Hunter syndrome. “Essentially, it damages all systems of the body. His body doesn’t make a certain enzyme that is responsible for breaking down cellular waste, and eventually, that cellular waste builds up in all the different organs, including the brain.”

Not only does it mean delays in cognition and speech, but it can lead to physical ailments as well.

“Heart disease, and short stature, larger head, curved fingers, and most of the children do not live past their adolescence,” said McKay.

There is no known cure for Hunter syndrome, and McKay said that their only approved options are enzyme replacement therapy, the same treatment her brother had, or a bone marrow transplant.

However, she says that’s not enough. McKay says there are potential options, but only for those in clinical trials.

“Currently, we are still waiting for these new therapies that are sitting in limbo with the FDA to get approved that are safe but also cross into the brain and can actually help fight the disease and have high potential to be lifesaving,” she said.

Project Alive is solely dedicated to Hunter syndrome research and making sure those impacted get their voices heard.

For now, McKay says each day with her beautiful boy is a blessing.

“He’s a very, very happy little boy, I mean, this is all that he’s ever known,” she said.

All McKay wants this holiday season is for new therapies for those with Hunter syndrome to be approved.

“We really want the FDA to understand the urgency that putting a delay ‘just three months,’ for families like ours, three months can be devastating,” she said.

To learn more about Hunter syndrome or the Project Alive nonprofit, click here.