Rare diagnosis has GA parents asking 'what's next?' - Dallas News | myFOXdfw.com

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

Posted: Updated:
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

  • More Health NewsMore>>

  • Patients urged to 'partner' with caregivers

    Patients urged to 'partner' with caregivers

    Monday, July 21 2014 6:00 PM EDT2014-07-21 22:00:32 GMT
    One woman teamed up with her doctors and got some answers to her health problems.
    One woman teamed up with her doctors and got some answers to her health problems.
  • Summer camp helps kids with Tourette's syndrome

    Summer camp helps kids with Tourette's syndrome

    FOX Medical TeamFOX Medical Team
    A summer camp for children with Tourette's syndrome is helping children embrace their disorder.
    A summer camp for children with Tourette's syndrome is helping children embrace their disorder.
  • Doctors: read to babies early, often

    Doctors: read to babies early, often

    Thursday, July 17 2014 11:08 AM EDT2014-07-17 15:08:53 GMT
    The country’s largest pediatricians group is telling parents to get reading. The American Academy of Pediatrics says reading should be an everyday ritual, beginning when your child is just a baby.
    The country’s largest pediatricians group is telling parents to get reading. The American Academy of Pediatrics says reading should be an everyday ritual, beginning when your child is just a baby.
  • CHILDREN'S HOSPITAL HEROESMore>>

  • Hospital Heroes

    Hospital Heroes

    Children's Miracle Network Hospitals raises funds for 170 children's hospitals across the United States and Canada.  Click here for more on our local heroes!
Powered by WorldNow

KDFW FOX 4
400 N. Griffin Street
Dallas, Texas 75202

Main Station Directory:
(214) 720-4444
News Fax:
(214) 720-3263 or (214) 720-3333

Didn't find what you were looking for?
All content © Copyright 2000 - 2014 Fox Television Stations, Inc. and Worldnow. All Rights Reserved.
Privacy Policy | Terms of Service | Ad Choices