While rare disease affects people all around us, often the mainstream press .
Which is why it’s extra important when a news outlet as big as the Los Angeles Times dedicates time to talking about the rare disease community.
Earlier this month, the LA Times spotlighted Global Genes, a leading rare disease advocacy organization with global reach to the worldwide rare community of patients, caregivers, advocates and more.
Furthermore, the article also featured the personal story of Merak Melikian Hatounian, who at 20 was diagnosed with gastrointestinal stromal tumors (GIST). His mother Debra has thusly become an advocate for rare diseases, with the help from Global Genes.
What are Gastrointestinal Stromal Tumors?
A gastrointestinal stromal tumor (GIST) is a type of tumor that occurs in the gastrointestinal (digestive) tract, most often in the stomach or small intestine. More rarely, it can occur in the colon, rectum, and esophagus.
GISTs are a type of soft-tissue sarcoma, which are rare cancers that begin in the tissues that connect, surround, and support other body structures.
Larger tumors usually seek medical attention when they vomit blood or have blood in their stool. Other symptoms include:
- Pain and/or swelling in the abdomen
- A mass that can be seen/felt in the abdominal area
- Nausea and vomiting
- Anemia
- Tiredness and/or weakness
- Loss of appetite and/or weight loss
- Difficulty swallowing
To learn more about GISTs, click here.
Rare Disease, Common Purpose
For Merak’s mother Debra, Global Genes has been a great source of help, strength, and inspiration.
“To me information is power — I want to learn as much as I can as quickly as I can,” Debra said. “Global Genes became invaluable to me.”
It was with Global Genes’ help that Debra connected with Dr. Jason Sicklick, one of the few doctors in the world studying GIST; and In particular, the rarer subtypes of the disease that includes the type Merak has.
Stories like these is music to the ears of Nicole Boice, Global Gene’s founder.
“In many instances these families don’t know where to go or where to turn to — that’s where we come in,” said Nicole. “Usually these people feel so isolated and alone because they don’t know anyone in their community who has the same disease.”
To learn more about this great organization and Merak and Debra’s story, click here!
