Waiting for a Diagnosis

Jul 11, 2016

Rare disease patient’s journey documented in film

By Meaghan Casey

Since Rare Disease Day was launched in 2008, there have been thousands of events on the last day of February each year, bringing new awareness to hundreds of thousands of people. Yet, for more than 30 million Americans, it’s a far cry from a one-day event. For them, Rare Disease Day is every single day.

A disease is defined as rare if it affects fewer than 200,000 people at any given time. Living with one can be frightening and isolating—especially if that disease goes undiagnosed. The complex nature of rare diseases, coupled with limited access to treatment and services, means that family members are often the primary source of solidarity, support and care for their loved ones.

Brockton residents Seth and Janis Creedon have spent the last four years seeking a diagnosis for their young son, Luke, who has various symptoms of a connective tissue disorder that doctors cannot identify.

“There are over 7,000 diagnosed rare diseases, and we still don’t even have a hole to put Luke’s peg,” said Janis.

The closest comparison to Luke’s disorder would be Marfan syndrome, which also affects the body’sconnective tissue and limits its ability to grow and develop properly. Features of the disorder are most often found in the heart, blood vessels, bones, joints and eyes, but it does not affect intelligence. Janis has found the same to be true for her son. 

“The only thing that has proved to be a waste of time was an MRI,” she said. “There’s nothing wrong with his brain. It’s not a muscle. That’s been the only thing that came back fine.”

She describes Luke as fragile because of his lack of balance and muscle development. He has had respiratory and cardiac problems, as well as sleep apnea. Feeding him has also been a huge challenge due to issues with swallowing.

“After he was born, we knew pretty immediately something was wrong,” said Janis. “He had a lot of feeding problems and almost a cleft palate. We couldn’t get him to gain any weight, he had no muscle tone and he slept all the time.”

At 6 months old, Luke was referred to Boston Children’s Hospital to see specialists in neurology, growth, nutrition and genetics. 

“By that point, he weighed 13 pounds and developmentally was still like a newborn,” Janis said.

He began receiving physical therapy services almost immediately. Janis said she wasn’t even sure if he would be able to walk, but he completed that milestone at age 2½.

“He’s making progress, but we’re always discovering new challenges,” said Janis, explaining Luke is now seeing as many as 18 specialists. She credits the dedication of pediatrician Dr. David Chung, primary care physician, and Dr. Sharon Smith, a specialist in genetics and genomics, for much of his progress.

Recently, Luke had surgery to remove his tonsils and doctors also took out half an inch of his tongue on both sides to stop his tongue from blocking his airway in his sleep. He will soon be undergoing another surgery to close a hole in his heart.

“He’s a trooper,” said Janis. “He has such a wonderful disposition, it’s just amazing. We’ll go to the hospital and he’ll ask, ‘Am I sleeping here or am I getting a cookie?’ That’s how he distinguishes an overnight visit from a routine check-up.”

The Creedons’ story is featured in Cambridge BioMarketing’s film, Rare in Common. Produced in time for Rare Disease Day this year, Rare in Common follows the experiences of rare families: their struggles, their strength, and their hope for the future as they confront the challenges of living with a rare disease.

“Because the population is so small, often the voices of rare patients aren’t loud enough,” said Alisa Shakarian, creative director of art at Cambridge BioMarketing. “We thought, what if we brought them together to present a bigger story, with a louder voice. This is their forum to showcase their unique stories.”

Film producers spent time with each of the families, capturing their lives and medical journeys—starting with the path to diagnosis and transitioning to stages of treatment, advocacy and caregiving.

“These people are so inspiring,” said Shakarian. “They have so much strength and kindness and the biggest of hearts. Hopefully viewers take away how much love and life comes with the rare space.”

The intended audience is two-fold. For those who are familiar with or impacted by a rare disease, Shakarian hopes the film empowers them. For doctors and representatives from pharma and insurance companies, she hopes it makes them think about rare diseases differently.

“Every rare disease is different but they all have rare in common,” Shakarian said, referring to the film’s title. “We want the stories in the film to give people the inspiration to keep fighting and advocating to show everyone that there’s hope for a better future.”

“Before, we didn’t think there was anyone who understood what we are going through, but this film and the premiere event introduced us to a network of people just like us that fight and advocate each and every day,” said Janis. “They get it and live it just like us and that is a powerful and inspiring thing, to know we are not alone and part of something larger. It’s very reassuring to see parents with older children who have a system and who are doing well. I found them especially to be a resource.”

The Creedons were connected to Rare in Common through Patricia Ferland Weltin, CEO and founder of Rare Disease United Foundation. They had also participated in Beyond the Diagnosis, a rare disease art exhibit at Harvard Medical School.

Rare in Common premiered in Cambridge and has since been submitted to a number of film festivals. At South by Southwest in Austin, the film was shown as part of a session on building rare disease communities. Lisa Hazen, chief strategy officer at Cambridge Biomarketing, served as one of the presenters, examining how digital innovation can provide an incredible opportunity to unite isolated groups of people together for a common cause—discovering fellowship, engendering hope and taking action to pursue their health as individuals and as a collective.

To learn more, visit www.rareincommon.com.

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