Suzanne Flynn vividly remembers the day her pediatrician said tests confirmed her newborn son, Patrick, had adrenoleukodystrophy, a rare, often deadly, genetic disease that can ravage a child's brain within a few short years.
"We were beyond devastated," Flynn, 37, recalls. "The only thing I knew about the disease was from the movie, 'Lorenzo's Oil.' I thought it was a death sentence. We were going to watch this baby learn to walk and talk and then lose all of that."
After learning more about the disease, Flynn says, "I realized this wasn't a death sentence and this early diagnosis was a gift."
Had Flynn lived in any other state, she wouldn't have gotten that "gift" since only New York tests newborns for ALD.
Patrick, who is now 16 months old, was the fifth child to test positive for ALD since the state started testing for the disease in December of 2013 as part of its standard newborn screening program.
In its most devastating form, ALD corrodes the myelin sheaths that coat the communication cables of the brain's nerve cells. When the myelin is damaged, communication between neurons becomes garbled, and eventually silent.
That very severe form of the disease strikes only boys since the damaged gene resides on the X chromosome. Boys inherit only one X chromosome, which is passed to them by their mothers. They receive a Y chromosome from their fathers. However, girls receive two copies of the X chromosome, one from each parent. If they inherit an affected X chromosome, their second functional X protects them.
In those affected, the mutated gene fails to make an enzyme needed to break down substances called very long chain fatty acids. Without that enzyme, these fatty acids build up in tissues and plasma throughout the body.
In about 90 percent of those with the genetic mutation, this eventually leads to issues with the adrenal gland, says Dr. Gerald Raymond, an ALD specialist, professor of neurology and director of child neurology at the University of Minnesota. In 35 percent of affected children, the disease does damage to the brain early in life, while in the other 65 percent, damage to the brain doesn't become apparent until adulthood.
Researchers have discovered the disease can be treated with a bone marrow transplant, but that therapy works only if children are diagnosed before they are symptomatic.
Flynn had herself tested and learned that she had, indeed, unwittingly passed the mutated gene to Patrick. She immediately had her 4-year-old son, Gavin, tested. To her horror, he had also inherited the damaged gene.
"Without the early diagnosis, we wouldn't have known that Gavin had it, too," she says. "And we would have been heading for tragedy."
The only silver lining for Flynn was that her 6-year-old daughter, Charlotte, was negative for the gene and was also the perfect bone marrow match for both boys.
Because bone marrow transplants come with risks, including death, and because it's impossible to tell in advance which children will get the severe form of the disease early in life, doctors don't advise that all children with ALD get a bone marrow transplant right away, Raymond says.
So, for children like Patrick and Gavin, that means getting a brain MRI every six months to look for any signs of damage from the disease. If damage is detected, then they'll need to get a bone marrow transplant.
At home, Flynn's sons are on a restricted fat diet and they're taking Lorenzo's oil, which has been shown to lower the amount of very long chain fatty acids in the body. Raymond, who studies Lorenzo's oil, says while it's been proven to knock back very long chain fatty acids, it's not yet been proven to prevent the disease from developing.
Still, Flynn wants to do anything she can to protect her boys' brains.
"It's not an easy road," she says. "But we know we are way ahead of the game."
Flynn and others are now trying to get more states to screen for ALD. In New York, the test was added to the standard panel for newborns with the passage of "Aidan's Law," named after Aidan Seeger, a 7-year-old Brooklyn boy who died from ALD.
Seeger's mom is also pushing to get ALD testing in every state. The biggest hurdle "is money, of course," says Elisa Seeger, 40. "It's always about money. What the legislators and even health departments don't realize is that this is not only about saving lives. It's also about saving money."
Last year, it cost $375,000 to test 250,000 babies in New York, Seeger says, adding, "Aidan's medical bills were over $4 million."
"Because of Aidan's Law, 33 babies have been diagnosed — and that's not counting the siblings who were also diagnosed," Seeger says.
Current estimates are that 1 in 20,000 babies are born with ALD, Raymond says.
WATCH: Parents help diagnose son's rare disorder
That is part of what makes ALD the kind of disorder that should be added to newborn screening panels in every state, says Dr. Ada Homosh, the Dr. Frank V. Sutland Professor of Pediatric Genetics at the McKusick-Nathans Institute of Genetic Medicine, and a professor in the department of epidemiology at Johns Hopkins Bloomberg School of Public Health.
Hamosh says the main factors that decide which diseases are screened for include:
- how prevalent the disease is
- whether an early diagnosis makes a difference
- whether there is a dependable screening test
The first step toward getting the test in more states would be the addition of the disease to the Department of Health and Human Services' "Recommended Uniform Screening Panel." Currently ALD is under consideration by the DHHS, Seeger says.
"I think it's at least as worthwhile as others that have been considered and added," Homosh says. "I would vote for it."
5 tests or screenings your newborn doesn't need
Dr. Aleksandar Rajkovic agrees. "I see no reason why this shouldn't be added to the current newborn screening panel," he says. "There are about 4 million births each year, so if 1 in 20,000 babies are born with ALD, that means approximately 200 would be diagnosed and you could potentially improve their lives."
Beyond that, Rajkovic says, it would prevent parents from going through a "diagnostic odyssey."
"These children show up with behavioral problems in school and then a great number of things are blamed before a correct diagnosis is made," Rajkovic says. "All that can take quite a bit of time. And the odyssey costs quite a bit of money and having severely affected children will cost the state a lot of money."