Putting a face on rare, incurable diseases

When children are dying of rare diseases that few people are working to cure, a closer look is required — which is just what one committed artist is providing. Our Cover Story is reported by Jim Axelrod:

His name is Sam Buck. And while his high-wattage-smile and infectious
laugh may remind you of a favorite nephew, there is virtually no chance you’ve
ever met a kid like him.

Sam, who will turn six on Tuesday, is one of just 250 people in the
world who suffer from vanishing white matter (VWM) disease — a brain disorder
that destroys white matter, a substance that helps transmit neural impulses, and
leads to the loss of motor control.

There is no cure — and the disease is typically fatal by the age of 10.

“Every birthday feels like it’s another year less that you have,”
said Sam’s mother, Allyson Buck.

“’Don’t turn six, ‘cause you are getting closer to ten?’”
Axelrod asked.

“Exactly. There is still so much we want to do with him, and so much we want to see.”

Allyson and her husband, Nick, have kept careful track in the three years
since their son’s diagnosis, as Sam’s speech has slowed down, and his ability
to walk slowly erodes — leaving him now unable even to stand.

“I think it’s really hard for people to wrap their heads around
the fact that a child as vibrant as Sam could be dying,” Allyson said.

The Bucks are trying to show Sam as much of the world as possible in
the time they have left: He’s been to 30 states and 19 countries, from Mayan
ruins in Mexico, to meeting his hero, Formula One race car driver Sebastian Vettel
in Texas. He’s even managed to squeeze in a meeting with the Duchess of Cambridge.

“We don’t want waste all our time worrying about what’s to come,”
Allyson said. “We know what’s to come. We want to be able to enjoy
whatever time we have with him.”

It’s not a pretty thought, but it’s a real one for parents of kids suffering
from rare diseases. Ninety-five percent of all rare diseases have no
treatment options at all. With so few people suffering from them, there
is no incentive for research and development of a cure.

That’s a fact not lost on Lucas Kolasa, an artist and curator of “Beyond the Diagnosis” — a collection of intimate portraits of children with rare
diseases, like Bertrand, one of the first kids Kolasa painted for the traveling
exhibit. 

Bertrand was the first patient ever diagnosed with something called NGLY1
deficiency. He has hundreds of seizures every day.

“When I painted the portrait, I took the wheelchair out,”
Kolasa said. “And I just made him look like he was having a good day. It’s
not just a picture; it’s a real person that I’m dealing with.”

The objective is to humanize these diseases through portraits of kids
like Theodora, who has a fatal heart condition; Megan, who suffers from a rare
chromosomal disorder that slows the blood flow to her heart and lungs; and Hannah,
who suffers from a rare form of epilepsy leading to progressive loss of motor
skills.

“Maybe somebody will look at this and be inspired to maybe find a
cure for it,” Kolasa said. “That would be awesome!”

“Beyond the Diagnosis” hopes to eventually put a face to all
7,000 of these rare diseases.

“It’s ambitious, but we’re going to do it,” said Patricia
Weltin of the Rare Disease United Foundation, who hatched the idea of the exhibit. Her two daughters suffer from
rare diseases.

“You can’t look at these portraits and not be moved.  You
can’t,” Weltin said.

So far, they are up to 60 portraits by artists from around the world — each
hoping to do with paint what can’t be fully done by words.

Axelrod took in some of the exhibition’s portraits: “You don’t
just see Gaucher disease, you see Noah. You don’t just see Sturge-Weber, you see Ashlynn. You don’t just see
Moebius syndrome, you see Miriam.”

“Exactly,” said Weltin. “And that was the point.”

Seventeen-year-old Austin Leclaire and his younger brother, Max, are
the faces of Duchenne muscular dystrophy, a rare muscle-wasting disease often
fatal by the age of 20. “I can accept that I am in a wheelchair and that’s
where I am going to be,” Austin said. “Most kids my age with my disability are on death’s row. They’re basically towards the end of their lives.”

But the Leclaire brothers have more hope than most kids suffering from
a rare disease. An experimental drug — Eteplirsen — seems to be
helping. It’s not a cure, but it does seem to slow down the progression of
the disease.

Austin and Max are two of roughly 100 children enrolled in clinical
trials.

“I do believe that [this drug] is holding the kids from the edge of the
cliff,” said Jenn McNary, Austin and Max’s mother.  She’s seen Austin
able to maintain certain functions while on the drug, and regain others, like
raising his arm above his head.

Max — one of the first to get Eteplirsen — is still walking more than
four years later.

But in this world of rare disease, hope is an elusive commodity. 
The path to drug approval is not an easy one, in part because the sample
size is so small.

Four months ago an FDA panel recommended against approving Eteplirsen
until the company provided more data that the drug actually works. If
that decision becomes final, it could threaten access to the drug for the Leclaires.

“It’s almost worse to be shown something that could treat your
children and then be told it could be taken away, than it is to just come to
terms with having children that are ill,” McNary said.

Which brings us back to Lucas Kolasa, and the moving way he hopes to
keep attention focused on rare diseases — and pressure on researchers and
regulators who may be able to provide hope. “I’m trying to do the child justice, and the family justice,” he said. 

When Axelrod first met him at his gallery in Warwick, Rhode Island, he
was putting the finishing touches on the portrait of Sam Buck … precise,
delicate work using a syringe to form images dot by dot.

“I get pretty involved with it,” Kolasa said. “And it
becomes very difficult to actually paint, because I start to fully understand what
this kid is going through and what the family’s going through. And then it is no longer a portrait to me. 
It’s really a personal experience.”

But even Kolasa didn’t know how personal until he brought the portrait
to Sam’s family for a look.

“Wow! How amazing is that?” said Sam’s dad.

Allyson Buck showed the painting to her son. “Who is that?”

“Me?” he replied.

Now “vanishing white matter” has a face. “His personality really shows through in the painting,”
Kolasa said.

“Yeah, it does,” Sam’s mother agreed. “You’ve captured
his joy.”

A sweet, darling face to put on a hideously cruel and destructive
disease.

“Every cause needs a face,” said Axelrod.

Allyson agreed: “It’s a beautiful face.”

     
For more info:

• Beyond the Diagnosis Art Exhibit
• Lucas Kolasa: Eunoia Gallery
• Rare Disease United Foundation
• Follow @jennmcnary on Twitter