It’s a tiny prick in a newborn’s heel, but it could be life-changing.
Starting last month, a rare but devastating genetic disease is now part of the routine blood screening given to all California babies shortly after birth.
Adrenoleukodystrophy – commonly called ALD – is a tongue-twisty name for a brain disease that primarily strikes boys, often in the prime of childhood. Until now, it’s usually been detected too late to save children from deteriorating into a vegetative state, if not early death.
For California families like that of Evan Cousineau, a San Clemente 9-year-old who was diagnosed and died in 2007, the new testing is a victory that comes with heartache.
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“It’s 100 percent bittersweet,” said Evan’s mother, Gina Cousineau, who started the nonprofit Be a Hero, Become a Donor in her son’s memory. She was among a handful of parents who testified at the state Capitol to encourage ALD testing, which passed the Legislature in 2014 but had to wait two years for federal approvals to begin.
“We didn’t have a chance to save Evan because we didn’t know,” Cousineau said. “Had this screening existed, our lives would have been very different.”
In Evan’s case, the avid swimmer and water polo kid started suffering unexplained headaches, vision problems and difficulties with handwriting and homework. Doctors suggested it was migraines or attention deficit disorder. It took a seizure before his ALD illness was diagnosed. Six months later, after complications from a bone marrow transplant, Evan died. It was the day before his 10th birthday.
“By the time you actually develop any symptoms, the damage has already been done,” said state Sen. Richard Pan, D-Sacramento, a pediatrician who has authored three bills related to genetic testing of infants, including the ALD bill. “Being able to detect the disease at birth, it allows parents to intervene in a way that can prevent that future damage, either disability or even death.”
All of California’s newborn blood test screenings are designed to allow early detection and intervention, especially in progressive diseases that can worsen quickly, such as ALD. The blood test, usually done within a day of birth, covers 80 different genetic or congenital disorders, including cystic fibrosis, sickle cell disease and severe combined immunodeficiency, commonly called “bubble boy disease.”
Some of the tested conditions can be treated relatively easily. For instance, primary congenital hypothyroidism, a thyroid deficiency that causes babies to grow very slowly and can result in mental disability, is found in about 275 California babies annually. When detected at birth, those problems can be prevented with daily doses of special thyroid medicine.
But ALD has no cure and can have devastating consequences. Inherited as a defective gene, it dissolves the protective myelin coating on nerve cells. Bone marrow transplants may slow or halt the disease’s progression; cortisone medications can relieve symptoms in milder cases.
In young boys, the disease typically appears between the ages of 4 and 10, often getting misdiagnosed as hyperactivity, viral infections or behavioral problems. Another ALD variation, adrenomyeloneuropathy, doesn’t show up until young adulthood, often causing degenerative neurological problems that affect limbs, leading to difficulties with gait and walking.
The genetic abnormality that causes ALD is carried by mothers but rarely shows symptoms in girls or women.
Patti Chapman knows the disease well. She’s president of The Myelin Project, a Pacific Palisades-based nonprofit group that supports ALD research and provides financial support to affected families. She lost two brothers to ALD, one as a 5-year-old and another after adult onset at age 44. One of her four sons was diagnosed at age 8; today, at 36, he cannot walk unaided, Chapman said.
“Not being able to get a diagnosis is heartbreaking and frustrating,” Chapman said. Many families “lost their boys because they didn’t know they had a predisposition.”
While relatively obscure, ALD garnered attention in the 1992 movie “Lorenzo’s Oil” about a couple who developed a concoction of oleic and erucic acids, derived from grapeseed and olive oil, to treat their son’s neurological condition. That mixture has shown some benefit in slowing ALD’s progression when given to children before symptoms appear. It’s not approved by the U.S. Food and Drug Administration but is available in a clinical trial affiliated with Johns Hopkins University.
California’s newborn testing program, similar to screenings done in all U.S. states, started in 1966 with testing for phenylketonuria, known as PKU. Run by the state Department of Public Health, parents are notified of their baby’s blood test results usually within two weeks. If a test is positive, a second blood test is done to confirm the diagnosis.
Nationwide, it’s estimated that 1 in 20,000 newborns will test positive for ALD if all states adopt the genetic test. It’s expected that anywhere from 25 to 30 newborn boys in California will be diagnosed with ALD this year, according to state public health officials.
After her 8-year-old son, Sawyer, died of ALD in 2003, Vista resident Janis Sherwood launched the FightALD website and traveled to 3,200 children’s medical facilities across the country, handing out educational brochures on the obscure disease. A decade ago, the disease was so rare that Sawyer’s symptoms went undiagnosed for months because so little information was available, Sherwood said. “Most doctors, even specialists, didn’t know about it.”
Pan said parents were instrumental in pushing ALD genetic testing in California.
“They’ve already had to go through that struggle, even death and grief,” Pan said. “They want to ensure that other families don’t.”
For Evan’s mother, there’s solace in knowing that ALD testing could spare other families the agony her son endured.
“Our boys who were lost were the catalyst for all these other boys who might be saved,” Cousineau said. “(With testing), we can stop this disease in its tracks.”
What is ALD?
Officially known as adrenoleukodystrophy, it’s a rare genetic neurological disease. The disorder attacks the myelin sheath that protects brain nerve cells, causing progressive impairment in speech, hearing, mobility, even death.
How it’s detected: As of Sept. 21, all California newborns are automatically screened for ALD in the hospital, part of routine blood testing given to babies after birth. The blood test screens for 80 different genetic or congenital disorders, including cystic fibrosis, sickle cell disease and an immunodeficiency known as “bubble boy” disease. The cost, about $130, is covered by Medi-Cal, as well as most health plans and private insurance.
Why it began: Parents of children diagnosed with ALD lobbied the California Legislature to add the genetic testing to the state’s newborn screenings. A bill by state Sen. Richard Pan, D-Sacramento, passed in 2014 but did not go into effect until this year, when the federal government approved blood screening for ALD.
How it’s treated: There is no cure. In children, the progression of symptoms can be slowed or halted with bone marrow transplants, but they’re risky and no guarantee they will prevent recurrence. Another treatment, known as “Lorenzo’s Oil,” while not approved by the FDA, appears to slow ALD’s progression if administered to young children before symptoms appear. It’s only available through a university-sponsored clinical trial. In milder cases, which affect the adrenal gland, cortisone has relieved symptoms.
Source: California Department of Public Health; Bee research