Cole's Story: Advocates shine spotlight on rare diseases

On December 3, the International Day of Persons with Disabilities, ABC11 spoke with Dr. Kimberly Stephens whose son Cole was diagnosed with an aggressive disease called Hunter Syndrome when he was two and a half years old. Here's her interview with ABC11, lightly edited for clarity and continuity:

"Hunter Syndrome is a rare condition...and the boys that have it are missing an enzyme that takes waste out of their body. So it builds up in their organs and pretty much the entire body and eventually will cause, usually for severe boys, death in their mid-teens to late teens," she said.

"We weren't expecting a diagnosis. First of all, you know, it's not in our family. It came out of nowhere. And so as soon as Cole was diagnosed, I was lucky to find the leading doctor in the country here in North Carolina and get him immediately on enzyme replacement therapy. So... that was a big deal to get it started early because that's important for our kids."

Stephens said Cole was enrolled in a clinical trial in North Carolina shortly after he started enzyme therapy.

"He's doing fairly well for a child with Hunter Syndrome. The clinical trials made a huge difference. He's doing really well physically, cognitively. He has lost his words. He was a really big chatterbox up until he turned about nine and then he just started losing his words," Stephens said.

"That was...pretty devastating at that point. And he was talking, and talking and singing. Then he gradually just started losing words. And then around nine, his last word was mommy. And he held on to that for about three or four months and then just gone. But, you know, he's doing well."

"A lot of the times when you're thinking about disability, we're not really aware of kids or adults with disabilities until it hits your family...I think until you really pay attention and you start looking around and saying, well, this isn't accessible, I can't get in this building because it's not wheelchair accessible."

"Just see what they want, what they need help with, or what you can do. Sometimes it's very simple, can I get the door for you? Do you mind? Can I help you with that? And I always ask someone if they're in a wheelchair or if they have a lot of stuff, 'Can I help you?' rather than just assuming that they need the help. I sometimes don't want help, but a lot of the time I do, you know, and when someone asked me to help with Cole, then it's really just a very good, nice act of kindness."

"I'm trying to do everything I can to keep Cole alive, and I surely want to be a voice for those parents that want the exact same thing. But maybe they don't have the ability to speak publicly, or they don't have the means to do that, or whatever the circumstance may be. If I can do that...I mean, I'm an English major becoming an advocate, right? So it's a different sort of role. Because we never should really look around and wait for someone else."

"With this being a progressive disease, he's 13 now and my voice has to be louder because at any time he can have a serious illness and no longer be with us."

"Think about how many people over 65 at some point will end up having a disability. All of us at some point are going to have something. Whether it's you Anthony with your glasses, me with my glasses, all of these sorts of adaptive equipment that we have, at some point in our lives all of us are going to have a disability, so just being kind is the main message."