Clay Emerson knew something wasn’t quite right with his infant daughter.
Brooke, now 3, seemed like a healthy baby at birth, but by the time she reached about five months old, Emerson and his wife, Jill, noticed their daughter’s growth had slowed.
“She had some other mild symptons that thought may have been GI related. Really nothing too glaring. What really started to put the red flags up was her growth.”
The Southern New Jersey couple spent over a year visiting specialists in search of an answer. “It was kind of an internal battle of wondering if something was wrong or are we just being first-time parents and worrying. But, indeed there was something very wrong.”
At 16 months old, Brooke was finally diagnosed with cystinosis, a rare genetic metabolic disease that causes the amino acid, cystine, to accumulate within the body’s cells. The build-up can cause damage to the tissues and organs including the kidney, eyes, muscles, liver and brain.
It’s so rare that only 500 people in the United States have the incurable condition — mostly children.
Of learning the news, Emerson said: “It’s like, what in the world? How could this be? What is this? One of the first things we did was reach out to some patient advocacy groups that focus on this disease. Within a day we were speaking to another parent, which I can’t tell you how helpful that was. You can imagine the feeling of isolation upon hearing your child is diagnosed with something you’ve never really heard of.”
In terms of Brooke’s treatment, she requires round-the-clock care and has a gastronomy tube, which allows medicine and food to be delivered directly to her stomach. “There is a heavy medication burden associated with this disease,” says Emerson. “Brooke takes 11 different medications over the course of a single day. It’s like 24 different doses all kind of spaced out. It really drives your schedule.”
And, says Emerson, “Brooke will definitely need a kidney transplant. It’s just a matter of time. We’ll see what the future holds. There is some promising research. Our goal is to just keep her as healthy as possible.”
Despite her condition, Brooke is “doing well,” says her dad. “She’s a happy kid.”
Emerson is also learning how to cope with his daughter’s disease.
“I am kind of a fix-it guy. I’m an engineer. And that’s what we do, we solve people’s problems. Use basic science and figure things out, fix it, get it done. This was really one of the first things in my life where it was not only the most important thing in my life — my daughter, my only child — to find out that she has something that I can’t even begin to fix was really, really humbling.”
He continued: “So, I didn’t have too many options of what we could do. We really rearranged things and made sure we’re absolutely a hundred percent compliant with all her various medications. And we also looked at what can we do for the disease in general and that was fundraising….This disease doesn’t get much attention. Her rare disease is our everyday disease.”
The Emersons have since raised over $75,000 for the Cystinosis Research Foundation through the Fishing for Brooke’s Cure fundraiser. They’ve also set up a website, Hope For Brooke.
“It’s helped us coped and it’s become a new purpose in our lives,” says Emerson. “Every minute we spend on those efforts we know that we are doing everything we can for her.”