{"id":719774,"date":"2026-04-11T05:20:12","date_gmt":"2026-04-11T05:20:12","guid":{"rendered":"https:\/\/www.europesays.com\/us\/719774\/"},"modified":"2026-04-11T05:20:12","modified_gmt":"2026-04-11T05:20:12","slug":"yulee-parents-turn-rare-diagnosis-into-mission-for-awareness-and-research","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/us\/719774\/","title":{"rendered":"Yulee parents turn rare diagnosis into mission for awareness and research"},"content":{"rendered":"

YULEE, Fla.<\/strong> \u2013 In the Hughes family\u2019s living room, 2-year-old Carson is doing what toddlers do \u2014 exploring, playing and keeping his parents close by.<\/p>\n

Carson will turn two in May, and his parents say he\u2019s curious, energetic and always on the move.<\/p>\n

His parents say he\u2019d rather run around with his shirt off, but they had other plans.<\/p>\n

\u201cHe\u2019s so funny,\u201d his mom, Emily, said. \u201cHe\u2019s such a little jokester.\u201d<\/p>\n

Carson Hughes in the pool. (Emily Hughes)<\/p>\n

But behind the toddler energy is a medical routine built around a rare genetic disease most families have never heard of.<\/p>\n

Carson has cystinosis, a disorder that causes cystine to build up and form crystals that can damage organs over time \u2014 including the kidneys and eyes.<\/p>\n

A months-long search for answers<\/p>\n

Carson\u2019s parents, Emily and Daniel Hughes, said the first signs appeared as Carson got close to his first birthday.<\/p>\n

Daniel said Carson started falling off his growth curve and became extremely thirsty, with frequent vomiting.<\/p>\n

The family took him to Wolfson Children\u2019s Hospital in Jacksonville.<\/p>\n

Carson and Emily Hughes in the hospital. (Emily Hughes)<\/p>\n

\u201cFor lack of a better term, the blood work lit up like a Christmas tree,\u201d Daniel Hughes said.<\/p>\n

Emily said the uncertainty that followed was emotionally exhausting.<\/p>\n

\u201cDefinitely the most difficult thing we\u2019ve ever been through,\u201d Emily said. \u201cIt was probably a very dark time for all of us.\u201d<\/p>\n

After weeks in the hospital and months of specialist visits, genetic testing provided the diagnosis: cystinosis.<\/p>\n

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\u2019t know of anyone in the region being diagnosed.<\/p>\n

What cystinosis means for Carson<\/p>\n

Emily said Carson\u2019s lab results reflected how severe the condition was at diagnosis.<\/p>\n

\u201cA normal person would be .16 or below,\u201d she said. \u201cWhen Carson was diagnosed in August, his came back at 14.8.\u201d.<\/p>\n

There is currently no cure for cystinosis.<\/p>\n

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.<\/p>\n

\u201cIt\u2019s not if he will need a kidney transplant, it\u2019s more when,\u201d Emily said.<\/p>\n

Carson Hughes in a play car. (Emily Hughes)Turning fear into a mission<\/p>\n

Despite the challenges, the Hughes family said Carson has remained resilient.<\/p>\n

And Emily said their focus now is not only on Carson\u2019s care, but also on raising awareness for rare diseases and the need for research.<\/p>\n

\u201cSeeing Carson, seeing him happy and get better,\u201d that\u2019s what Emily said motivates her.<\/p>\n

\u201cThis is what I was put on this Earth to do \u2014 to help raise awareness for not just the cystinosis, but rare diseases in general,\u201d Emily Hughes said.<\/p>\n

The family is hosting a charity golf tournament, \u201cA Cure for Carson,\u201d on Saturday at Trident Lakes Golf Club in Kings Bay, Georgia.<\/p>\n

Proceeds will benefit the Cystinosis Research Foundation, which supports research aimed at better treatments and a cure.<\/p>\n

Hughes Family (Emily Hughes)<\/p>\n

More information about the event and the foundation can be found online:<\/p>\n