Rare diagnosis has GA parents asking 'what's next?' - KMSP-TV

Rare diagnosis has GA parents asking 'what's next?'

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ATLANTA, Ga. -

Bad news from the doctor can be tough on any family. But, imagine being told your child has a disease so rare, there's no treatment, and no roadmap for what lies ahead. That's what going on with Daniel Hughes, who turns four next month.

Daniel is a regular at Children's Healthcare of Atlanta, where we caught up with him coming in for a swallowing test. Watching him, play in the exam room, he acts - and looks- like a typical – preschooler. His mom Debbie Hughes says, "Oh, my goodness. He just loves life. Just smiles. And is just happy as could be."

Daniel was born underweight in April of 2010... His parents Jim and Deb knew he wasn't meeting his developmental milestones.

When he was 2 and a half, they learn why: he has Alexander's Disease. Deb says, "When I got the phone call that day, it was, like, Wow!" She says, "Dr. Keller, who is my neurologist, was like, "Do not go on the internet. This is extremely rare.

"Don't research it or anything, just please don't. Until we get your final diagnosis. Because it's not good, it's not a good prognosis."

Alexander's is the most rare of an rare family of genetic disorders known as leukodystrophies - that progressively damage the central nervous system. Hughes explains, "The brain has a white protective sheath. And, he's losing his. And his is mainly in the frontal lobe and a little bit in the back. And, eventually he'll lose his ability to walk, talk, eat, swallow."

Daniel is the only known case of Alexander's in Georgia. There are only about 250 worldwide. When she got the diagnosis, Deb says, "I just went out and cried, and prayed."

Because his disorder is so uncommon, the Hughes - and Daniel's team at Children's - are making up treatment plan for him as they go. On this visit, his swallowing test goes well. Deb and Jim know most children with Alexander's disease - survive less than ten years. But this disorder is so rare, they don't know what's next for Daniel, Deb says, "Because there are no cures, there's no medicines, there's no therapies. There's nothing."

Deb is trying to change that, organizing Georgia's first "Walk for ULF" Saturday, to raise money for the United Leukodystrophy Foundation. Researchers hope to one day find a "maintenance treatment" for children like Daniel. But, that's probably ten years off, time they don't have. So, they focus on what they do have: time right now with this little man - who's there whole world. Deb is both realistic, and optimistic. She says, "So, I just hope he has a long, as long a healthy life as he can, with no suffering. That's all a parent can wish for.

The Walk for ULF will be held Saturday, March 29th at 8am at 130 Tech Parkway in Peachtree Corners.

For more, check you www.walkforulf.org

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