February 04, 2016, 02:00 pm
Hurry up, Burwell, lives
are at stake
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By Elisa Seeger
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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.
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