Longietti speaks at state Capitol to support Pennsylvanians with rare diseases

Joins advocates on Rare Disease Day to raise awareness, announce survey

HARRISBURG, Feb. 28 – State Rep. Mark Longietti, D-Mercer, joined patients, families, advocates, health care professionals and fellow lawmakers at the state Capitol today to highlight the needs of approximately 1.2 million Pennsylvanians living with a rare disease and to encourage participation in a patient survey launched by the Pennsylvania Rare Disease Advisory Council.

Longietti, who was a prime sponsor of the legislation establishing the council in 2017, said the survey will provide PARDAC with critical information to guide its efforts and establish priorities into the future.

“One out of every 12 Pennsylvanians lives with a rare disease, and two-thirds of those patients are children,” Longietti said. “Today, we heard from 13-year-old Charlotte McMackin, who shared her experience living with KIF1A Associated Neurological Disorder. There are rare disease patients like Charlotte in every county of the state, including Mercer County, and they all face unique challenges because they lack access to the same level of diagnosis, care and treatment available to patients with more common diseases.

“The council is launching a needs-assessment survey seeking input from patients. I urge anyone with a rare disease to visit www.pardac.org and take the survey. The information will provide critical guidance in helping the council carry out its No. 1 mission, which is to improve the lives of Pennsylvanians with these rare diseases.”

The Pennsylvania Rare Disease Advisory Council is a partnership among patients, families and advocates; medical, science and industry professionals; and insurance groups and other agencies to support the needs of patients living with rare diseases. The council works to collect data on rare diseases; develop policy recommendations and strategies; and transform the lives of people living with rare diseases through collaboration, advocacy, education and support.