– On Feb. 28, leaders of the General Assembly’s Rare Disease Caucus and the PA Rare Disease Advisory Council (PARDAC) recognized Rare Disease Day – a day dedicated to creating awareness for equity in access to diagnosis and therapies, healthcare, and quality of life for those living with a rare disease.
“The Rare Disease Advisory Council was formed to become a voice for Pennsylvanians affected by rare disease,” said Jennifer Wescoe Singley, secretary, PA Rare Disease Advisory Council and executive director of the Wescoe Foundation for Pulmonary Fibrosis. “It is an honor to be with our legislative leaders and patient advocates to celebrate Rare Disease Day.”
“Unless you are in their shoes, you do not know what it is like to be misdiagnosed for years or to have a disease no one has ever heard of with no cure,” said Rep. Mark Longietti (D-7), co-chair, Rare Disease Caucus. “It’s our job working with with Rare Disease Advisory Council to create pathways for quicker diagnosis, so patients can move forward faster.”
To better learn about the needs of Pennsylvania’s rare disease patients, PARDAC launched a patient needs assessment survey with the support of the Rare Disease Caucus co-chairs. “As legislators, our job is to listen and learn about the constituents’ needs, said Rep. Barb Gleim (R-199), co-chair of the Rare Disease Caucus. “That’s why over the next couple of months, the Rare Disease Council will be promoting its statewide patient needs assessment survey. The results from that survey will help our group narrow gaps between where we are and where we need to be to improve the quality of life for all those affected by rare diseases in Pennsylvania.”
|View Rep. Gleim's remarks
We know there are immediate needs for the rare disease community now,” shared Sen. Judy Ward (R-30), co-chair of the Rare Disease Caucus. “During my nursing career, I witnessed firsthand the challenges and obstacles patients and their caregivers experience that is one of the reasons I introduced Senate Bill 196, the Co-pay Accumulator Reform Measure. The bill will prevent insurers from shifting high drug costs back onto patients and ensuring that all co-pays count so patients can continue using co-pay assistance to afford their treatments.” Companion legislation, House Bill 1664, was introduced by Gleim and Longietti.
Thirteen-year-old Bucks County native Charlotte McMackin shared her story for the first time about her diagnosis with a rare neurological disease. She is estimated to be one of only 400 globally across 40 countries.
“I may struggle at times to walk, or to keep up but having KIF1A Associated Neurological Disorder (KAND) doesn’t define me,” said McMackin. “I still have the same rights, thoughts and feelings as everyone else. Having a diagnosis and understanding the cause of my condition gives me hope for that someday soon there will be treatment.” Charlotte’s mother, Dr. Naomi McMackin, shared the stage with her daughter and were ambassadors for the estimated 1.2 million Pennsylvanians with rare diseases.
Sen. Maria Collett (D-12) was just recently appointed as co-chair for the Rare Disease Caucus. “I am looking forward to working closely with PARDAC. As a nurse and attorney, I know that my perspective and experience will lend itself to providing a different lens when advocating for the rare disease community to my colleagues in the legislature. I am excited to work with my fellow co-chairs and am grateful to bring additional awareness to the more than 1.2 million families who are affected by a rare disease.”
“Having a leader like Sen. Collett as one of our co-chair continues to strengthen our collaboration as we work with the Legislature. We are so grateful she has agreed to serve in a leadership role,” shared Marie Conley, chairperson of PARDAC. “At a time when most only see Republican or Democrat, the Rare Disease Caucus co-chairs only see rare. We are fortunate for their dedication, commitment, advocacy and bi-partisan support.”
To learn more about the Rare Disease Council, or to take the Needs Assessment survey, please visit pardac.org
Representative Barbara Gleim
199th Legislative District
Pennsylvania House of Representatives
Rep. Barb Gleim (R-Cumberland), co-chair of the General Assembly Rare Disease Caucus, participated in a press conference to raise awareness of Rare Disease Day.