Newborn Screening Test For ALD Recommended, But Most States Don't Offer It : Shots - Health News There's a genetic test for ALD, the inherited disorder portrayed in the movie Lorenzo's Oil, and the federal government recommends it for all newborns. But only a handful of states offer it routinely.
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Parents Lobby States To Expand Newborn Screening Test For Rare Brain Disorder

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Parents Lobby States To Expand Newborn Screening Test For Rare Brain Disorder

Parents Lobby States To Expand Newborn Screening Test For Rare Brain Disorder

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ROBERT SIEGEL, HOST:

In the 1992 movie "Lorenzo's Oil," a family gets some bad news about their young son. He has a rare brain disorder.

(SOUNDBITE OF FILM, "LORENZO'S OIL")

PETER USTINOV: (As Professor Nikolais) It's progress is relentless. The end is inevitable.

SUSAN SARANDON: (As Michaela Odone) And there are no exceptions.

USTINOV: (As Professor Nikolais) I am so sorry.

SIEGEL: Well, a study published today by The New England Journal of Medicine shows promising results in 15 out of 17 boys. They got an experimental treatment using gene therapy. Recent progress in treating the disorder has led a few states to test newborns for it. And doctors say early diagnosis and treatment could make all the difference. Anna Gorman reports from San Diego.

KERRI DE NIES: Look at mommy.

GREGORY: (Crying).

DE NIES: You're fine. It's OK.

GREGORY: (Crying).

DE NIES: It's OK.

ANNA GORMAN, BYLINE: Kerri De Nies got the news from her son's pediatrician this spring. Gregory, a chubby-cheeked toddler who likes trains, had a rare brain disorder.

DE NIES: The doctor sat us down and told us that Gregory tested positive for the gene mutation adrenoleukodystrophy. And of course, I didn't know what that meant. And so she pretty much Googled it.

GORMAN: In its most serious form, the genetic disease known as ALD strikes young boys. Symptoms include seizures, vision problems and memory loss. Once there are signs of brain damage, treatment doesn't work. They often die before they turn 10.

DE NIES: Of course, you think about the worst-case scenario, you know.

GORMAN: But early diagnosis means Gregory has a real chance at survival. And for that, Kerri De Nies considers herself lucky to live in California. It's one of the few states that requires newborn testing for ALD.

DE NIES: I think about it every day that there are all these boys that are going to be born, and these families will not know until it could be too late for them.

GORMAN: One in every 18,000 people have ALD. About a third of boys develop the life-threatening form of their disease. It destroys myelin, the protective surface that surrounds nerve cells.

RAMAN SANKAR: It's a very, very serious condition.

GORMAN: That's Raman Sankar. He's a neurologist at UCLA. He says newborn screening is a game changer for kids like Gregory. It allows doctors to start following them early. Gregory, who doesn't have any symptoms, will get his first brain MRI when he turns 2. If he has the serious form of the disease, he'll get a bone marrow transplant. That can stop ALD in its tracks.

SANKAR: The newborn screening gives you the earliest possible warning, and any treatment we do has to be undertaken before they have profound symptoms because nothing we do to treat this will reverse the damage that has occurred.

GORMAN: In 2013, New York became the first state to start testing newborns for the disease. The law passed after a woman who lost her son to ALD lobbied her state lawmakers. Soon after, more grieving mothers joined the movement. Janis Sherwood took up the cause in California. She lost her son, Sawyer, in 2003. He was 8 years old.

JANIS SHERWOOD: It became this mission just to try to save other people from having to go through what we went through.

GORMAN: By the time she found out he was sick, she was helpless. He lost his sight, then his hearing, then his ability to talk and walk.

SHERWOOD: I mean, you don't prepare for that, especially when they say there's nothing that can be done; take them home and make them comfortable.

GORMAN: Since that time, Sherwood and the other mothers have dedicated their lives to making sure every state includes ALD in its newborn screening.

(SOUNDBITE OF MUSIC)

GORMAN: As Kerri De Nies plays with her 1-year-old son Gregory, she knows he could have a rough road ahead, but she believes he'll live a long life, and she credits moms like Sherwood.

DE NIES: I cannot thank them enough for what they've done for me and what they've done especially for Gregory. And I just feel like they're our fairy godmothers.

GORMAN: So far, five states test newborns for ALD, and at least half a dozen others will begin screening soon. I'm Anna Gorman in San Diego.

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