Bakersfield teen fighting to save others from devastating disease

Bakersfield teen fighting to save others from devastating disease

BAKERSFIELD, Calif. (KBAK/KBFX) - An effort to have newborns in California screened for a devastating genetic disease is gaining ground, thanks in part to the work 14-year-old Jeremy Hill Jr.

"Please start testing people as soon as possible," said the high school freshman as he testified at a hearing before the California Senate Health Committee recently.

The disease is called Adrenoleukodystrophy, commonly referred to as ALD.

The disorder affects the brain and other vital organs. Children stricken suffer seizures, motor skills are affected, victims can become bed-ridden, and in some cases, such as Jeremy's, victims can go blind.

But doctors at first misdiagnosed Jeremy and told his parents he had attention-deficit disorder. It would not be until two years later when Jeremy suffered his first seizure that he was properly diagnosed with ALD.

By then, however, the disease had progressed, and doctors told his parents that Jeremy had one to six months to live.

"An MRI was performed, revealing white matter on his brain. And for the first time in our lives, we heard the word Adrenoleukodystrophy," said Jeremy Hill Sr. as he testified at the Senate hearing.

Jeremy Jr. is alive today after a bone marrow transplant was done at a hospital in Minnesota.

Democratic Assemblyman Richard Pan of Sacramento has introduced a bill, AB 1559, that would make it mandatory to have newborns in California screened for ALD. The state already mandates newborns be tested for more than 70 other diseases.

"A delay of even a few weeks can mean the difference between life and death for ALD children," said Dr. Keith Van Harem, ALD specialist at Stanford Medical Center.

After Jeremy Jr. finished testifying, he received a round of applause from the Senate Health Committee. The Committee approved the bill.

The legislation is working its way to a vote on the Senate floor.  If passed, it then goes to the governor's desk for his approval, which could happen in September.