Faces of Rare Diseases

Celebrated portrait exhibit of children with rare diseases adds hemophilia painting.

Mason (left) and Miles Johannsen both have severe hemophilia A. Their portrait has been added to the “Beyond the Diagnosis” exhibit of paintings of children with rare diseases. Artist Jota Leal’s hand can be seen in the bottom right corner.

Mason (left) and Miles Johannsen both have severe hemophilia A. Their portrait has been added to the “Beyond the Diagnosis” exhibit of paintings of children with rare diseases. Artist Jota Leal’s hand can be seen in the bottom right corner.

One of the main challenges in the fight against rare diseases is helping the medical community focus attention on conditions that relatively few people are living with.

Rare disease advocate Patricia Weltin, who’s a mom to two daughters with rare conditions, is all-too-familiar with the issue. She set out to fix that disconnect between some parts of the medical community and rare disease patients by putting a face to every one of the estimated 7,000 diseases considered rare.

The idea eventually took shape as “Beyond the Diagnosis,” a U.S.-based traveling exhibit of portraits of children living with rare diseases. About half of all rare disease patients are children, according to the U.S. National Institutes of Health (NIH).

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Launched just four years ago, the idea has proved wildly successful. Since “Beyond the Diagnosis” first went on display at Rhode Island’s Brown University Medical School in February of 2015, the exhibit has been on non-stop tour with prestigious showcases at Minnesota’s famed Mayo Clinic, Harvard University and Massachusetts Institute of Technology’s Broad Institute in Boston and the NIH’s offices near Washington, D.C.

What began as a collection of 32 portraits has steadily grown by dozens of paintings, each illustrating a child with a different rare disease. But before November hemophilia, a rare but well-known bleeding disorder that affects millions worldwide, was missing from the event.

Weltin saw an opportunity to make the addition when New England Hemophilia Association Executive Director Rich Pezzillo reached out to her about putting “Beyond the Diagnosis” on display at NEHA’s FallFest event.

“I said why don’t we do a portrait for it,” Weltin recalled telling Pezzillo. “We haven’t done hemophilia yet, why don’t we make this conference special?”

Pezzillo connected Weltin with Michelle Johanssen, whose two young sons, Miles and Mason, have severe hemophilia A. Weltin enlisted the help of portrait artist Jota Leal who, like all artists involved with “Beyond the Diagnosis,” donated his time and talent to create a portrait from a photo of the boys.

The finished piece, a lifelike portrait of 5-year-old Mason cradling his infant brother Miles, is as good as any painting in the “Beyond the Diagnosis” collection, Weltin says.

“He really captured the love between the brothers and their humanity more than anything else,” she said. “It’s just striking.”

The portrait, the 100th for the exhibit, was officially unveiled at the NEHA FallFest late last year with Michelle Johannsen, her husband Mark and Mason and Miles on hand.

Michelle and Mark Johannsen with their children Mason, 5, and Miles at the unveiling of the “Beyond the Diagnosis” portrait of the boys at the New England Hemophilia Association FallFest event. 

Michelle and Mark Johannsen with their children Mason, 5, and Miles at the unveiling of the “Beyond the Diagnosis” portrait of the boys at the New England Hemophilia Association FallFest event.

Johannsen calls the portrait a “breathtaking” that captures her sons’ “personality and souls.”

“Jota captured their love and gave a face to the hemophilia community,” she told Vita.

Two faces, to be exact, among the “Beyond the Diagnosis” collection of dozens aimed at inspiring the medical community to make the battle against rare diseases a common cause.