BOERNE, Texas – A Boerne mother said her son was diagnosed with a deadly disease that could have been detected by routine testing at birth. She is now hopeful that the disease will become part of the newborn screening process.
Kammie Robertson said she noticed her son's, Parker, 6, vision began to grow worse, so she took him to an optometrist to get checked.
The optometrist said it was serious, really serious.
"So we took him to the University Hospital ER, told them what was going on, (and) they did a CT scan and said there's no tumors, but there are some white lesions. They admitted him to the hospital, and three days later gave us the diagnosis," Robertson said.
The diagnosis of adrenoleukodystrophy, or ALD, is a rare neurological disorder that progressed quickly in her son.
"Since October, he has lost his vision and his hearing," Robertson said.
She said one of the things that has frustrated her the most has been learning that ALD is easily diagnosed in newborn children if they are tested.
"Once symptoms start with this disease, it's too late to do any kind of treatment. That's why we are trying to raise awareness and get it pushed to be on the newborn screening panel in all 50 states," Robertson said.
Robertson said she hopes that her efforts just might just influence a senator or representative to spearhead legislation that could require newborns in Texas to be checked for ALD at birth and free parents from the devastation and grief of watching their child suffer before their eyes.
"Right now, it's only in New York, and they started it in 2012. And since they've started in New York, they've diagnosed 46 babies at birth. There are things that they can do. There are treatments and things to save them. They'll have a long healthy life," Robertson said. "In our case, we don't get that chance. But we are enjoying every minute with him, because he's a great child."