YULEE, Fla. – In the Hughes family’s living room, 2-year-old Carson is doing what toddlers do — exploring, playing and keeping his parents close by.
Carson will turn 2 in May, and his parents say he’s curious, energetic and always on the move.
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His parents say he’d rather run around with his shirt off, but they had other plans.
“He’s so funny,” his mom, Emily, said. “He’s such a little jokester.”
But behind the toddler energy is a medical routine built around a rare genetic disease most families have never heard of.
Carson has cystinosis, a disorder that causes cystine to build up and form crystals that can damage organs over time — including the kidneys and eyes.
A months-long search for answers
Carson’s parents, Emily and Daniel Hughes, said the first signs appeared as Carson got close to his first birthday.
Daniel said Carson started falling off his growth curve and became extremely thirsty, with frequent vomiting.
The family took him to Wolfson Children’s Hospital in Jacksonville.
“For lack of a better term, the blood work lit up like a Christmas tree,” Daniel Hughes said.
Emily said the uncertainty that followed was emotionally exhausting.
“Definitely the most difficult thing we’ve ever been through,” Emily said. “It was probably a very dark time for all of us.”
After weeks in the hospital and months of specialist visits, genetic testing provided the diagnosis: cystinosis.
The Cystinosis Research Foundation says it occurs in 1 in 100,000 to 200,000 births in the United States. The Hughes family said they don’t know of anyone in the region being diagnosed.
What cystinosis means for Carson
Emily said Carson’s lab results reflected how severe the condition was at diagnosis.
“A normal person would be .16 or below,” she said. “When Carson was diagnosed in August, his came back at 14.8.”.
There is currently no cure for cystinosis.
Carson receives ongoing treatment, including medication every six hours and feeds through a tube, as his parents work to manage his cystine levels and protect his organs but said the damage is already done.
“It’s not if he will need a kidney transplant, it’s more when,” Emily said.
Turning fear into a mission
Despite the challenges, the Hughes family said Carson has remained resilient.
And Emily said their focus now is not only on Carson’s care, but also on raising awareness for rare diseases and the need for research.
“Seeing Carson, seeing him happy and get better,” that’s what Emily said motivates her.
“This is what I was put on this Earth to do — to help raise awareness for not just the cystinosis, but rare diseases in general,” Emily Hughes said.
The family is hosting a charity golf tournament, “A Cure for Carson,” on Saturday at Trident Lakes Golf Club in Kings Bay, Georgia.
Proceeds will benefit the Cystinosis Research Foundation, which supports research aimed at better treatments and a cure.
More information about the event and the foundation can be found online: