Organization supporting those with rare, hard to detect cancer have its annual conference in Rochester

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(ABC 6 News) – Erdheim-Chester Disease Global Alliance is hosting its annual conference in Rochester for the first time in three years since the pandemic.

Families and patients meet annually with the unique opportunity to direct questions and concerns to an international group of expert medical professionals.

In Chatfield, a woman was recently diagnosed with the rare from of cancer. Experts say the illness is difficult to detect and diagnose. Holly Littrell got sick in 2008 and wasn’t diagnosed officially until 2011. When she received the diagnosis, doctors told her she only had five years left to live.

“When I first got it, they didn’t know anything about what it was it can affect a lot of different areas in your body,” Littrell said.

The common symptoms are bone pains and pains in the upper and lower legs. Patients can also experience symptoms easily confused for a stroke like balance issues and slurred speech.

While it is still difficult to diagnose, doctors are relying on a new tool to help them detect the disease. They discovered rare mutations in the blood indicate the presence of the rare cancer.

“The discovery of these mutations about a little over dozen years ago helped us actually define this disease and helped us understand that this a type of cancer,” said.

Doctors say these mutations allow them to develop treatments and diagnose the illness.

At her latest appointment, Holly’s doctors said she could live for another 21 years.