O.C. nonprofit empowers those with rare diseases

When her son was diagnosed with a rare form of cancer at age 20, Debra Melikian had a choice to make.

“I could either cry and crumble or be strong and strategic,” Melikian said.

She chose the latter.

“Every day I am a mother on a mission to raise awareness and support for my son’s disease,” the Aliso Viejo resident said.

Melikian’s only child, Merak Melikian Hatounian, suffers from gastrointestinal stromal tumors (GIST). The rare disease affects about 4,000 to 6,000 new patients in America each year. Hatounian has a particular subset — succinate dehydrogenase-deficient (SDH) GIST — that affects about 150 to 200 people a year in the U.S.

For families impacted by rare disease, there are few places to turn for information or communal support. Aliso Viejo-based Global Genes seeks to fill that role.

The organization is celebrating its 10th year advocating for those with rare diseases and providing support for sufferers and their families.

“In many instances these families don’t know where to go or where to turn to — that’s where we come in,” said Nicole Boice, the organization’s founder. “Usually these people feel so isolated and alone because they don’t know anyone in their community who has the same disease.”

Boice founded the nonprofit after experiencing a friend’s frustration while trying to find a diagnosis for a host of health problems plaguing their child. Prior to her work with Global Genes, Boice was involved with an investment banking firm.

“I started looking into this world of rare disease,” Boice said. “I decided to drop everything and give it a go in making a real difference.”

Boice said there was only two other organizations in the country at the time that were doing similar work to Global Genes, but neither focused on the grassroots elements of advocacy — working with and empowering patients.

“The reality is you get thrown into this world with a rare disease and there is nothing — no drugs that exist, no research,” Boice said. “You have to do something as a rare disease patient or else nothing will be done. You have to become an expert and an advocate.”

The nonprofit seeks to educate and connect through providing free resources to those with rare diseases and their families, coordinating communities to bring people together, developing scientific research strategies and providing a face to the rare disease community.

According to Global Genes, 30 million people suffer from rare diseases nationwide. A disease is considered rare in the United States when it affects less than 200,000 people. The National Institutes of Health claims about 50% of people affected by rare diseases are children.

The organization is working at an international level, with “touch points” in 17 countries.

Like many parents in the wake of a rare disease diagnosis, Melikian was stunned and confused. But once the shock wore off, she kicked it into high gear, trying to gather as much information as she could about her son’s illness.

Melikian was already versed in the process because her husband had been diagnosed with cancer a year prior in 2013. He died about a year ago.

“To me information is power — I want to learn as much as I can as quickly as I can,” Melikian said. “Global Genes became invaluable to me.”

Once Melikian found Global Genes she had access to vital information and a vast network of people working with rare diseases.

Melikian connected with UC San Diego’s Jason Sicklick, one of the few doctors in the world studying GIST. In particular, Sicklick focuses on some of the rarer subtypes of the disease, including Hatounian’s condition.

There isn’t a cure for Hatounian’s disease, but Sicklick is working to find one. Global Genes recently honored Sicklick with its Rare Champion of Hope Award.

Sicklick has to contend with one of the central issues plaguing the study of rare disease: funding.

“It’s incredibly difficult getting funding for diseases like this,” Sicklick said. “We spend a lot of money studying more-common diseases like pancreatic and lung cancers, but it can be to the detriment of these less common diseases.”

When applying for NIH grants, Sicklick has to compete with the more well-known diseases. One grant he applied for was rejected because reviewers determined that any progress made in studying GIST would be unlikely to have wide significance in medicine.

Sicklick said the best way to fix this issue is to have grants specifically for rare diseases so they aren’t competing against breast cancer and other more common forms.

“Nobody is going to argue with you that the impact of studying pancreas cancer is going to be broader, but on the same token, the impact to these patients is pretty meaningful too,” Sicklick said.

Hatounian, now 24, has undergone four operations since his diagnosis.

“He refuses to let cancer define him — he learned that from watching my husband,” Melikian said. “We are in a race against time and it’s my hope that by working with Global Genes and Dr. Sicklick we will be able to find a cure someday. Hopefully in time to save my son. They give us light and hope.”

To donate to the UCSD GIST research fund, visit bit.ly/2EgWEVX. For more information about Global Genes or to donate, visit globalgenes.org.

benjamin.brazil@latimes.com

Twitter:@benbrazilpilot