Leap Day is also Rare Disease Day

Health News

LOS ANGELES (AP) — Saturday, Feb. 29 marks Rare Disease Day, a day to raise awareness for the millions of people battling rare diseases. Now a new treatment for one of those conditions is giving patients hope.

Argie Bertolucci is finally feeling like herself again after months of battling an aggressive eye disease that was only getting worse. “I was really feeling sick, double vision all over now, having a really hard time seeing,” she says. Bertolucci is one of the first thyroid eye disease patients to receive the drug Tepezza, the first medication that’s just been approved to treat the painful, rare condition.

Thyroid eye disease causes the muscles and fatty tissues behind the eye to become inflamed, forcing the eye to bulge forward. Patients can experience headaches, double vision, light sensitivity, and even lose their sight entirely. “When these muscles get bigger, they start to squeeze the optic nerve,” says Dr. Raymond Douglas, an oculoplastic surgeon with Cedars-Sinai Medical Center. He says the new medication is a game changer in the battle against rare diseases. Tepezza was so successful in the clinical trials, the FDA fast-tracked the drug to make it available for patients quickly.

Thyroid eye disease affects up to 20,000 Americans every year, according to Horizon Therapeutics. It is one of more than 7,000 rare diseases and no treatments exist for most. With increased awareness and more research, patients and doctors hope that can change. “There is the will, there are people who are very anxious to work on these diseases, but the funding is very hard to achieve,” Dr. Douglas says.

Bertolucci’s treatment will include eight infusions delivered through an IV over 24 weeks. She says she’s already seeing her symptoms improve. “I was really shocked at how fast and appreciative because I was in so much pain I couldn’t function,” she says. The results are giving her a more hopeful vision of her future.

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