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Aug 11, 2009 10:52 pm US/Central
3 Brothers Treated For Rare Genetic Disorder In MN
(WCCO)
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The Shaffer twins, Nathan and Nicholas, are rambunctious 8-year-olds, but their parents noticed some red flags when Nathan entered kindergarten.
CBS
It's not unusual for young boys to have hyperactivity or attention deficit disorder. But those are some of the early symptoms of a rare genetic disorder called Adrenoleukodystrophy or ALD, an inherited condition affects one in about 20,000 boys.
Patients are traveling from around the world for treatment in Minnesota. There's a family from Oregon that's here with three boys diagnosed with this rare disorder.
The Shaffer twins, Nathan and Nicholas, are rambunctious 8 year olds, but their parents noticed some red flags when Nathan entered kindergarten.
"He wasn't moving forward like he was as a toddler. He was always a few months behind. He wasn't getting the basic counting and colors and what not," said mother Traci Shaffer.
Nathan was diagnosed with Epilepsy when he was two and the twins were born premature, which made it hard to figure out if that was the cause of the symptoms. An MRI showed a spot on the brain and it turned out it was ALD. All three boys tested positive.
"Especially with Nathan, everyday he's getting worse," said Shaffer.
So the Oregon family came to Minnesota. They were at the Ronald McDonald House while both twins get bone marrow transplants, the only treatment for this potentially deadly disease.
"Most of the boys that have this disease look absolutely fine until they're school aged, so 6 to 8, 10, then they develop progressive neurologic symptoms. Actually it's a lethal disease. They tend to go downhill relatively quickly and die within a few years," said Dr. Paul Orchard of the University of Minnesota Amplatz Children's Hospital.
The Shaffers were diagnosed early, so they have a good prognosis. The boys know they will have to go in the hospital but they know they're here to get better.
"All three of them have the same problem and we had to come to Minnesota to see the best doctor to help them get over this," said Shaffer.
Doctors said symptoms of ALD can include trouble walking or running, behavioral issues, motor skills problems, trouble hearing or seeing and abrupt changes in school performance.
For more information on ALD, click on the links below.
Adrenoleukodystrophy Foundation
NINDS Adrenoleukodystrophy Information Page
U of M Blood and Marrow Transplant Program
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