Hurry up, Burwell, lives are at stake

Sylvia Burwell, what are you waiting for? 

Every 36 hours a baby in the U.S. is born with ALD or adrenoleukodystrophy, a treatable genetic disease that’s unnecessarily debilitating or fatal. It strikes one in 17,000 people, most severely boys and men, including my son Aidan. 

He passed away on April 29, 2012 – just 11 months after being diagnosed too late. He was 7. 

This mysterious and incurable brain disorder destroys myelin, the protective sheath surrounding the brain’s neurons, nerve cells that literally control our thinking and movement. 

Initial symptoms are as common as withdrawal, vision and hearing problems, difficulty concentrating. Eventually, onset ALD results in blindness, deafness, seizures, progressive dementia, and eventually permanent paralysis or death.    

The reason ALD’s ravages are so severe is because it’s usually not diagnosed in time, if at all. 

Like all rare diseases, knowledge is king when it comes to ALD. 

Knowledge means parents of diagnosed babies know to get bi-annual MRIs to scan for lesions on the brain, signaling the start of onset ALD. It means parents also know what symptoms to look for, and when. (In Aidan’s case, it was blurry vision at six.)

Once onset, the only treatment for ALD is a bone marrow transplant. But knowledge means parents of these boys know to start searching – immediately – for a matching donor. The sooner the transplant, the higher its chances of success (and a normal life for their boy).  

Knowledge also means pre-symptomatic boys can keep ALD from becoming onset for years by drinking an extract of rapeseed and olive oil. If you saw the film “Lorenzo’s Oil” starring Susan Sarandon, you might be familiar with this treatment. This film was the first – and last – time ALD received national attention. That was 1992. 

Enter Sylvia Burwell. 

As secretary of the U.S. Department of Health and Human Services, she has the power, today, to start saving the lives of babies not being tested for ALD in three states just waiting for her nod: California, New Jersey, Connecticut. 

These states are unique not because they don’t yet test newborns for ALD. Only one state, New York, does. Aidan’s Law, passed in 2013, requires all 250,000 of its newborns be tested for ALD via a drop of blood taken from the heel. (In two years of testing, 42 babies in New York have tested positive for ALD.) 

What makes California (500,000 annual newborns), New Jersey, (100,000 annual newborns) and Connecticut (30,000 annual newborns) unique is they have compliance laws on the books dictating they follow the federal Recommended Universal Screening Panel. 

In August the HHS advisory committee on newborn screening voted, 11 to 1, in favor of adding ALD to the panel. The committee sent notice of its decision to Burwell on September 25, 2015—four months ago. What’s the hold up, Burwell? 

It’s not the evidence. 

For three years moms like me lobbied the committee, providing clinical research, medical witnesses and testimony of our family tragedies. Members also reviewed a 72-page “evidence-based report” on ALD from a leading researcher. The report included clinical data, testing platforms, treatments, benefits and possible harms. 

It’s not the rarity of the disease. 

Consider this: Of the 31 core diseases listed on the federal screening panel, ALD has a higher known occurrence rate than 25 of them (or 80 percent). 

It’s not the cost. Or is it? 

Certainly, the federal government needn’t cover the cost of ALD screening in California, New Jersey and Connecticut – the only states impacted by adding ALD to the panel. Already, these states have assumed the cost of testing their collective 630,000 newborns by passing federal-state compliance laws. 

It’s worth noting the newborn screening committee inexplicably also recommended HHS fund nationwide screening of ALD. That’s bad advice. Why? 

Newborn screening is determined, legally, state by state. There are no other diseases on the panel the federal government pays states to screen for. ALD, for no stated reason, would be the first. 

Burwell should approve her committee’s wise recommendation to add ALD to the panel while rejecting the suggestion HHS pay for screening. Each state’s decision would then include calculating the cost of testing – as has been the case with rare diseases since screening began in 1964. 

So what is the cost of testing babies for ALD? 

In its first year of screening, New York paid less than $2.50 per newborn. Most of us spend that on a cup of coffee.

Seeger is founder of the Aidan Jack Seeger Foundation, which provides need-based grants to families struggling with the cost of caring for a child suffering with ALD, adrenoleukodystrophy.