No longer invisible: The faces of rare disease

A mother who spent years struggling to diagnose her daughter’s illness has found a new tool to draw attention to rare diseases: oil on canvas.

Patricia Weltin, a single mom raising two daughters with rare diseases, described years of frustration — and even 10 unnecessary surgeries — before figuring out that her eldest daughter has Ehlers-Danlos syndrome, a rare disorder that was making her vomit in her sleep.

Between 25 and 30 million people in the US have rare diseases, defined as affecting fewer than 200,000 people nationally, according to the National Institutes of Health. Yet, Weltin said, many suffer in isolation.

“This community is used to feeling invisible,” she said.

Weltin, who lives in Rhode Island, is on a mission to raise national awareness, and research money, for rare diseases. She is launching her campaign one face at a time. As CEO of the Rare Disease United Foundation, Weltin aims to commission 7,000 paintings of children, one for each known rare disease.

The result is the Beyond the Diagnosis art exhibit, on display through Dec. 15 at Harvard Medical School’s Transit Gallery in the basement of Gordon Hall.

The exhibit features 40 portraits of real-life kids with rare diseases — kids like 3-year-old Siena, who hunted with excitement for her portrait at a recent opening reception. Siena, of Rhode Island, suffers from Prader-Willi syndrome, which leaves infants with weak muscles, and later leads to perpetual feelings of hunger. Her mother, Felicia DiMuccio, said she participated in the exhibition to raise awareness of the disease, which has no cure.

Another portrait features Bertrand Might, who suffers from NGLY1 deficiency, an extremely rare disorder that make kids unable to produce tears. His father, Matt Might, thought Bertrand was the only one suffering from that disease, but then — in a remarkable story chronicled in The New Yorker — harnessed the power of the Web to find other kids with the same genetic mutation and team up their families in search of new treatments. Might now travels to share his son’s story and advise medical schools and even government officials on a new parent-driven approach to diagnosis and treatment of genetic disorders.

Might said patients like Bertrand are too often reduced to a label: “A disease. A gene. A set of symptoms.”

He said seeing Bertrand’s portrait, complete with an “impish grin,” made him realize that he, too, is “guilty of reducing my own son in many cases to the gene implicated in his disorder: NGLY1.”

“The exhibit is a reminder that these patients are in fact human beings first, and patients second,” Might said.

The exhibit’s next stop is the NIH, where Weltin aims to garner more attention in the scientific community — and direct more research money toward rare diseases, the vast majority of which don’t have a treatment.

She isn’t stopping there. She is already recruiting more artists and more kids to the cause. 

“We’re going to keep going and going and going,” she said.