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

Oct 4, 2017
Originally published on October 6, 2017 5:38 pm

Kerri De Nies received the news this spring from her son's pediatrician: Her chubby-cheeked toddler has a rare brain disorder.

She'd never heard of the disease — adrenoleukodystrophy, or ALD — but soon felt devastated and overwhelmed.

"I probably read everything you could possibly read online — every single website," De Nies says as she cradles her son, Gregory Mac Phee. "It's definitely hard to think about what could potentially happen. You think about the worst-case scenario."

ALD is a genetic brain disorder depicted in the 1992 movie Lorenzo's Oil, which portrayed a couple whose son became debilitated by the disease. The most serious form of the illness typically strikes boys between the ages of 4 and 10. Most are diagnosed too late for treatment to be successful, and they often die before their 10th birthday.

The more De Nies learned about ALD, the more she realized how fortunate the family was to have discovered Gregory's condition so early. Her son's blood was tested when he was about 10 months old.

Dr. Florian Eichler, a neurologist at Massachusetts General Hospital, says newborn screening is a game changer for children with the ALD, because it allows doctors to keep a close eye on kids who test positive for an ALD mutation from the beginning.

Gregory — who doesn't have any symptoms — will get his first brain MRI when he turns 2, and again every six months after he turns 3. If a scan shows changes that indicate he has the serious form of the disease, he'll likely then get a bone marrow transplant. That can stop ALD in its tracks.

"If you pick it up in the early stages," Eichler says, "you are at a much better place in terms of treating it effectively."

California is one of only a handful of states nationwide that now routinely screen newborn infants for the disease — a test that dramatically increases Gregory's chances of survival.

The state began testing newborns for ALD in September 2016 — seven months after the federal government added it to the list of recommended screenings. The testing in California included all babies born after February of that year.

Eichler says he has seen many families over the years whose boys were diagnosed late.

"Listening to families and their ordeal gives you a real sense of what this has done over generations and how much suffering could be prevented through the screening program," he says.

New York was the first to begin routine screening, in 2013, followed last year by Connecticut and California. A few other states, including Pennsylvania and Minnesota have since followed.

"It's mind-boggling that not every state is testing," says De Nies, who teaches children's ballet in San Diego. "Families will not know until it could be too late for them."

Advocates, including several grieving moms who lost their sons to the disease, were instrumental in getting the screening law passed in California. Now they are continuing to lobby legislators and pushing health officials to add ALD to screening panels across the nation.

Janis Sherwood says that since her son Sawyer's death from ALD in 2003, she has felt an urgency to educate doctors, families and others about the disease.

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.

"I mean you don't prepare for that," she says, "especially when they say there is nothing that could be done. Take him home and make him comfortable."

In the last few years, she has turned her attention to lobbying states throughout the nation to adopt newborn genetic screening for ALD. She believes that as California collects data on how the boys do in treatment, other states will follow. "I think that we are going to see a domino effect as we get more states on board," she says.

About one in every 18,000 people have ALD. Of boys with the genetic defect, about 30 to 40 percent will develop the life-threatening form of the disease, which leads to vision, gait and memory problems — and eventually death. The illness destroys myelin, the protective surface that surrounds the brain's nerve cells.

Both boys and girls get tested for ALD because they can both be carriers of the genetic defect and develop a less serious adult form of the disease. Only boys, however, develop the more serious, ultimately fatal, childhood version of the disease.

The common treatment, a bone marrow transplant, is risky and complicated, says Dr. Raman Sankar, a UCLA neurologist, but it is often successful if the donor is a good match and the procedure is performed before the child develops clinical symptoms.

The earlier the transplant, the better a boy's chance of survival, Sankar says. "The delay may make the difference between whether he can have a life-saving treatment or not."

Doctors are also having some success with gene therapy, in which the children undergo a transplant with their own stem cells rather than a donor's, Sankar says. In fact, a study published Wednesday in the New England Journal of Medicine concluded that gene therapy "may be a safe and effective alternative" for treating boys with cerebral adrenoleukodystrophy. The study was based on 17 children with ALD, 15 of whom were doing well two years after gene therapy treatment.

The ALD screening test is part of a panel of tests done on blood samples drawn soon after a baby is born. (In California, state law requires that the blood be tested for about 80 diseases, including cystic fibrosis, severe combined immunodeficiency and primary congenital hypothyroidism).

Typically around the nation, newborn testing kits cost a hospital or birthing facility about $120, says Dr. Jeff Botkin, chief of medical ethics at the University of Utah. "This is an extraordinarily low cost for this number of tests," he says. The tests are typically covered by insurers or Medicaid.

There is no answer to the question of how common a condition should be to merit spending health care dollars on testing for it, Botkin says. But many of the conditions for which the federal government recommends screening are rare, which means they could affect 1 in 50,000 babies or fewer.

"The major question is whether the condition is treatable," Botkin says.

Before newborn screening, boys in the early stages of ALD frequently were incorrectly diagnosed with hyperactivity and other conditions, says Dr. Richard Olney, who heads the genetic disease screening program for the California Department of Public Health.

"Many families had to go through sort of a diagnostic odyssey," he says. "It only became clear as they developed progressively worse problems that they had a serious genetic condition."

By the time a brain MRI was performed, there was often too much damage to save the child.

Eichler says that's part of the challenge for clinicians who may not be familiar with ALD: "How do you know when this is a critical brain disease versus just a normal part of development?"

People with the genetic mutation who do not develop the disease in childhood may still have a milder form as adults. Boys and men who have the mutation need to be monitored by an endocrinologist, doctors say, because many will develop a condition in which their adrenal glands fail to produce enough of a stress hormone that is needed to fight infections.

Gina Cousineau's son Evan was diagnosed with ALD at age 8 in May 2007, after he came home from swim practice and had a seizure. Though he underwent a bone marrow transplant, Evan died from a secondary infection before he turned 9.

Cousineau lives in San Clemente, Calif., and helped lobby for the California law that requires ALD screening. She says newborn testing has benefits for infants with ALD and can help families discover that siblings or other relatives have the gene mutation.

"Thank God this newborn screening came into effect," Cousineau says. "Knowledge is power. Had I had the knowledge with my son, Evan, he would be alive today."

De Nies says she worries about Gregory's future, but she's confident her son will live a long life. And she's grateful to Cousineau and other mothers whose sons didn't have the same chance.

"Without them, we would never know about the gene mutation," she says. "I just feel like they are our fairy godmothers."

So far, five states test newborns for ALD. And at least half a dozen others are expected to begin screening soon.

Copyright 2017 Kaiser Health News. To see more, visit Kaiser Health News.


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


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).


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.


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. Transcript provided by NPR, Copyright NPR.