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Melanson advocates for patients with rare diseases

TOWNSEND — Jen Melanson’s journey with a rare disease has led her to advocating for other patients. She plans for it to become her career.

Melanson is one of the organizers of an awareness event at the Massachusetts State House on Monday to mark Rare Disease Day.

In 2004, after her thyroid was removed, she had a known, but rare, complication, hypoparathyroidism. The glands attached to her thyroid were damaged and her body no longer made the hormone needed to regulate calcium in her bloodstream.

“Fatigue is a huge part of this disease,” she said. It affects muscles, including the heart and other organs.

In her early 30s, she worked a physically demanding job as a nursing assistant at night and was a stay-at-home mom during the day.

“It was really all I could do to drag myself through the days,” she said.

She faced the fear of the unknown. Her doctors did not know that much about the disease. Kidney failure is a possible complication. She and her husband Todd had to think about her long-term prognosis. What if her kidneys gave out and she was only in her 50s?

Melanson uncovered a study of an experimental drug being done at the National Institute of Health in Bethesda.

She was accepted and went through the treatment. It worked. She was just about back to her pre-disease self.

The cure was short-lived. When the trial was over, and the drug was stopped, symptoms returned.

“They give you your life back and then, sorry it’s done,” she said.

Not being complacent or willing to sit back and wait to get sicker, she found another trial with the help of her doctor at NIH.

For five years, she was part of a clinical trial at Massachusetts General Hospital using the same drug. She testified as a patient during the Food and Drug Administration approval hearings.

“I did very well and I managed to resume a lot of my activity level,” she said.

The drug, NATPARA, was approved in January 2015. It became available commercially three months later.

Melanson transitioned out of the trial and onto a commercial regimen. She and her doctor worked at getting the drug delivered to her system the way she needs.

For her, a steady infusion works better than the daily shot approved by the FDA, but her insurance does not cover the expense of the pump. An insulin pump manufacturer set her up with a pump. She pays the $300 per month supply cost herself.

The drug itself retails for $8,000 per month. Her insurance is good when it comes to that cost, she said.

Now she runs, hikes, kayaks, works, is a mom and has returned to school.

She plans to become a professional patient advocate and goes to Fitchburg State University. She has an internship with Shire Pharmaceuticals in Lexington, the company that makes NATPARA.

“That’s really exciting for me,” she said.

Melanson is not speaking Monday at the state house during Rare Disease Day, but she plans to talk with legislators about a bill that will help patients with private insurance who need expensive drugs.

The cost for some drugs can be thousands of dollars per month, she said. The “Cap the Copay” bill would cap drug copays at $100 per month.

Last year, in a program called “Running for Rare Diseases,” Melanson was matched up with a runner of the Boston Marathon to raise funds and awareness of rare diseases. “I can’t tell you what it was like to stand at the Boston Marathon and see someone cross the finish line with my name on her shire.”

Despite what she calls a love-hate relationship with running, the sneakers will be on Melanson’s feet May 1. She will run a half-marathon in Providence for a woman in Germany with Gaucher Syndrome.

“I’m really excited about that too,” Melanson said.

“Rare Disease Day 2016: the patient voice” will be held in the Great Hall at the State House, 24 Beacon St., Boston from 11 a.m. to noon on Feb. 29. The event is sponsored by local rare disease advocates and the National Organization for Rare Disorders.