How One Rare Disease Advocate Learned to Look Across Diseases

by Danny Levine

When RARE-X first sought to recruit Megan O’Boyle as patient engagement lead for the nonprofit, she turned the organization down because she didn’t want to be distracted from meeting the needs of her 19-year-old daughter Shannon.

Shannon has the rare genetic condition Phelan-McDermid Syndrome, which can cause autism, intellectual disabilities, epilepsy, ADHD, and other medical conditions. She was the 35th patient to be diagnosed with the condition six months after she was born. Recently, she suffered a series of infections, as well as from psychiatric complications. These types of setbacks are especially difficult as Shannon is nonspeaking and can’t communicate pain and anxiety. She would be finishing school in two years, and O’Boyle was concerned about making preparations for her when her school ends.

But when O’Boyle discussed the RARE-X offer with a mentor, a researcher from the National Institutes of Health’s National Center for Advancing Translational Sciences, she changed her mind after he told her that he didn’t think she’d find anything for Shannon without metadata.

“It’s very possible that the treatment that you need for Shannon is hiding in a disease that your researchers have never heard of and that you’ve never heard of,” the researcher told O’Boyle. “Until the research can be done across these diseases, the likelihood of the treatments for all of these diseases being found is going to continue to be poor, and it will continue to be at this slow pace.”

That resonated with O’Boyle, who has been working on behalf of Phelan-McDermid Syndrome Foundation across other groups that share overlapping symptoms, such as autism and epilepsy. For her, RARE-X represents a means for addressing obstacles many organizations and researchers have faced in seeking to look beyond data in a single disorder.

For instance, one effort O’Boyle has been involved in is the Alliance for Genetic Etiologies of Neurodevelopmental Disorders and Autism (AGENDA). This collaboration is working with organizations driving research into 15 different rare genetic conditions that involve autism. When the groups formed a collaboration, they had several data-related issues that needed to be addressed. This included the fact that their data wasn’t standardized, and it resided on different platforms that were not connected. No one had the money or the technology to change that.

The groups also found that while they were all asking the same questions, they were doing so in different ways. For a simple question, like “When did your child walk independently?” six groups asked it in six different ways and had six different sets of answers. That was typical for everything that was asked of patients and caregivers.

“As patient engagement lead for RARE-X, I will be guiding people like me, people who are anxious and desperate, and may not know much about data, never heard of an IRB, and don’t know what governance is, but either the FDA or a researcher, or somebody at a conference said, ‘You have to collect data,’” said O’Boyle. “Eventually we hope that there will be a whole team of people like me on board, who will be able to help all these disease groups and guide them.”

O’Boyle reluctantly entered the world of rare disease data when she got a call from another Phelan-McDermid Syndrome parent who was a volunteer with the research arm of the Phelan-McDermid Syndrome Foundation. The organization needed someone to attend a meeting about how to create a patient registry on their behalf. O’Boyle tried to explain that research wasn’t her thing. She hadn’t taken a science class since tenth grade and her hands were full caring for three children.

When she realized she was selected because of her zip code—she lived near where the meeting was held—she agreed to attend and take notes. Before she knew it, though, the organization had made her principal investigator on the registry.

Geography has helped shape O’Boyle’s belief in collaboration across rare diseases. She lives in Arlington, Virginia, not far from the National Institutes of Health, the U.S. Food and Drug Administration, the Patient Centered Outcomes Research Institute, and Academy Health. She regularly attends meetings held by those various organizations and that has put her in touch with people who represent many different rare diseases. She has come to recognize commonalities, rather than differences, people with rare conditions and their caregivers face.

“Everybody thinks that they’re so rare, but 90 percent of what these rare Neurodevelopmental Disorders look like are the same,” she said.

As the engagement lead for RARE-X, O’Boyle works with rare disease communities to help them develop and govern their new data collection platforms. She said as a nonprofit that federates data, RARE-X is here to collaborate and complement existing data sets, not compete with them.

What excites her most is the potential of RARE-X to remove barriers researchers face to accessing data and allow them to find it by searching disparate sources at once.

Consider the data that exists about her daughter Shannon. The NIH’s Rare Disease Clinical Research Consortium has six years of data from visits to NIH including EEGs, EKGs, overnight sleep studies, and blood work. If Shannon was having uncontrolled seizures, O’Boyle might use the phone app Seizure Tracker to monitor her. And if she wanted to track her sleep, she could put a wearable device on her. Shannon’s bio samples reside at Rutgers and the California Institute for Regenerative Medicine and related information could be tied in at those places as well. Eventually, a researcher investigating the SHANK3 gene that underlies Phelan-McDermid, autism, or Phelan-McDermid would be able to find all of that data through RARE-X.

“Even more importantly, a researcher that’s never heard of Phelan-McDermid syndrome or SHANK3, could look for ‘catatonia’ and they’re going to find Shannon. And what are they going to find out from Shannon that they never in their imagination thought they would find out? That may be where the answers lie,” said O’Boyle. “Not all of this data will be available at the launch of RARE-X but the technology RARE-X is built on is capable of handling it all. Things get built in stages as they get funded in stages, but that is the vision of RARE-X.”