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Vitamin Could Provide Breakthrough Treatment for Kids with Rare
Disease; New Diagnostic Test Available to Identify Cockayne

JUNE 29, 2016 – ALEXANDRIA, VA — The National Institute on Aging is
preparing to launch human trials to study the effectiveness of a “highly
promising” anti-aging vitamin that could restore the health of damaged
human organ tissue. It’s first subjects: children with a rare age-accelerating
condition. The significance of the study for medical science appears
The NIA’s research is not intended to determine if the substance will peel
away wrinkles or restore youthful metabolism. The findings it seeks could
possibily be more dramatic than that. Says the head of the NIA’s Molecular
Gerontology Lab, Dr. Vilhelm Bohr. “We wouldn’t proceed if we didn’t have
some confidence the vitamin could slow down the aging of human organs.
Can it stop or even reverse aging?” Bohr asks rhetorically. “Hopefully, the
study will give solid indications one way or the other.” Bohr’s grandfather,
Neils, and his father, Aage, were both Nobel Prize winners. Vilhelm Bohr
insists that this anti-aging research does not have him thinking about a
Nobel Prize for himself. “Right now we’re just concerned with finding these
very special children for the study.”
The children the NIA seeks are afflicted with an extremely rare genetic
disease known as Cockayne Syndrome. CS causes its victims organs to age
at such tremendously accelerated rates that almost none live beyond their
teens and many die far younger from old-age related organ detrioration. By
administering the vitamin to Cockayne children, the Institute hopes to both
extend the kids’ current lifespans and ease their suffering. Because CS
causes such rapid aging, researchers may have answers to the vitamin’s
effectiveness much faster than by studying a normally aging population.
The NIA needs to chart the vitamin’s impact on as many Cockayne
Syndrome children as possible in order to provide reliable scientific data. But
locating kids with CS is a challenging obstacle to say the least. It’s hoped the
American media will lend an important hand in raising awareness of CS and
by doing so aid otherwise baffled physicians in recognizing the disease.
“We’ve only been able to identify about 50 CS children thus far,” points out
Bohr, “but we know there are about twice that number in the country that
remain undiagnosed. If we can find them we hope we can help them, as well
as better determine if this vitamin is appropriate for broader population
CS is so rare, on average there are just nine CS births a year, that doctors
don’t recognize it. When the signs of Cockayne begin to appear they are
frequently misinterpreted. Something is clearly wrong with the youngsters
but rapidly aging organs is rarely suspected. Fully two-thirds of all CS
children will die never having been properly diagnosed. However, now if
successfully identified, these kids could potentially have their organ
deterioration slowed, halted or even reversed by the NIA’s intervention
therapy study.
“The key issue for CS families and the NIA is having awareness raised so
these afflicted children can be found and given access to the anti-aging
vitamin,” Dr. Bohr says.
“The good news,” says Dr. Edward Neilan, the head of Genetics Medicine at
Boston Children’s Hospital, “is that more than ever doctors can get help to
determine if their pediatric patients have CS.”
Neilan, a much honored Harvard School of Medicine trained molecular
biologist, says there are many characteristics of CS that can greatly assist
doctors in making a proper and prompt CS diagnosis. The most obvious is a
commonality of appearance, or what geneticists like Neilan term the
“Gestalt,” of a CS child. In other words, these rapidly aging children look
very much alike.
“CS kids often resemble each other more than they do their own siblings,”
points out Neilan, who over many years has worked with 60 or 70 Cockayne
Syndrome children. Among their common characteristics:
• Aged appearance with deeply sunken eyes
• Microcephaly – small head
• Drwarfism
• Poor growth –short stature
• Developmental delays, learning disabilities
High-pitched voices
• Extreme sensitivity to sunlight
• Seizures
Severe visual and hearing problems
• Liver and/or kidney disease

For 11 years Atlanta residents David Sweeting and Jill Zimmerman sought
unsuccessfully for answers to their son’s condition. Almost accidentally
Zimmerman stumbled onto the “Share and Care Cockayne Syndrome”
website. She’ll never forget that discovery.
“I saw the photos of the kids and they all looked so much like our son.”
Zimmerman called her ex-husband. “‘David,’ I said, ‘I’m sure Max has
something called Cockayne Syndrome!’” So, a mystery that had eluded a
dozen doctors for over a decade was suddenly resolved when a determined
mom saw a handful of pictures of children that eerily resembled her own
Max Sweeting is now 18 years old and at the outer limits of his life
expectancy. His parents are urgently eager to enroll the tiny three-and-ahalf
foot tall boy in the NIA’s vitamin intervention study. Says the lad’s
father, “The entire Cockayne community knows Dr. Bohr and Dr. Neilan. We
trust they want what is best for our kids, and I’m sure they’ll get 100
percent commitment to the NIA’s research.” Sweeting then adds, “In truth,
this vitamin intervention is the first real hope we or our children have ever
been given.”
Beyond their appearance the effort to identify the 100 undiagnosed
Cockayne’s kids just got its most solid boost ever. Working tirelessly with
loaned lab equipment from former Harvard collegues, Neilan has developed
a blood test that will determine the presence of CS. So now, doctors with
the slightest suspicion of CS can order the test through the University of
Washington in Seattle and get a conclusive diagnosis.
So the efficacy of a vitamin that could alter the aging process generally for
older Americans now depends on locating a veritable handful of very unique
younger ones.
As the only CS support organization is the country, The Share and Care
Cockayne Syndrome Network is inviting the media to a conference to be held
for three days in mid-July at the group’s modest headquarters in Alexandria,
Va. Nearly 40 of the 50 known CS children and their parents will be there
along with Doctors Bohr and Neilan. Bohr will explain study details to those
interested in enrolling their CS kids in the NIA’s anti-aging research project.
Neilan will detail his CS blood test breakthrough. Parents, as well Bohr and
Neilan, will be available for interviews on Saturday and Sunday July 16th and
17th and children will be available for photography and video.

For more information or to schedule interviews contact:
Simeon Smith
404-483-1637 cell
Jackie Clark

Below are web links you may find helpful:
(short video report)


  1. Amelia meza/ Sasha meza

    I’ve only known about cockayne syndrome for only 9 years. It was hard to hear that my daughters diagnosed was far,worst than cerebral palsy. Its heart breaking, it’s like an epidemic unknown to anybody therefore making you feel like your child is picked to suffer. Watching them go through that it’s devastating. Here I’m reading about a possibility that a vitamin can slow the aging possibly reverse it. She’s lost so much. Its a miracle, one that I’m willing to take a chance on. Please say that she qualifies at her,age. Give me some hope

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