Rare disease drove two women on a mission to change FDA drug review process

Melissa Goetz and Lindsey Sutton are campaigning to improve the US drug review process for rare diseases.

(CNN)When Californian Lindsey Sutton was an infant, her blood was the color of cherry Pepto Bismol. Doctors quickly discovered it was highly saturated with fat.

At 5 weeks old, she was diagnosed with a rare genetic disease called familial chylomicronemia syndrome, or FCS -- a disorder that would lead to lifelong bouts of severe abdominal pain, liver problems and pancreas inflammation.
Years later in New York, Melissa Goetz found out her weeks-old daughter also had the disease, which causes a buildup of fats in the blood and can cause potentially fatal problems with the pancreas. Goetz's baby would soon be hospitalized with pancreatitis, a liver infection and a kidney infection.
    "She was vomiting, they drew her blood, and it was that strawberry milkshake-colored pink," Goetz told CNN. "It was a very difficult time emotionally for me being postpartum and having her diagnosed with a rare disease."
    The FCS community is relatively small -- only about one in 1 million people have the rare disease -- so although they live on opposite sides of the country, Sutton and Goetz eventually teamed up to fight the disease.

    No approved drug for their disease

    Sutton and Goetz eventually met as members of a U.S. Food and Drug Administration advisory committee trying to find a treatment for FCS. (Apart from sticking to a strict low-fat diet, there are currently no FDA-approved therapies for FCS.)
    During the clinical trial process, they noticed something strange -- none of the medical experts on the committee had ever treated FCS patients or had much experience with the disease.
    That realization prompted the two women to embark on a mission to change the process for reviewing drugs for rare diseases.
    "It began with our frustrations of FCS, but as we were talking with other rare disease groups and sharing our frustrations and concerns with them, we realized that this was not only an FCS-specific issue," said Goetz, who is co-president of The FCS Foundation along with Sutton.
    "A lot of other rare diseas