HARRISBURG, Pa. (Erie News Now) – Monday was Rare Disease Day. The annual event is dedicated to creating awareness for equity in access to diagnosis and therapies, healthcare, and quality of life for the 300 million people living with a rare disease around the world.
This morning, advocates and Pennsylvania lawmakers came together to raise awareness, call for action, and share their stories.
Thirteen-year-old Bucks County native, Charlotte McMackin, is like most teenagers. She argues with her parents over her screen-time on devices, and enjoys hanging out with her friends.
“I’m a pretty typical teenager, I like to play Minecraft, goof off with my friends, and edit digital photographs,” said McMackin.
She is also one of the 1.2 million Pennsylvanians living with a rare disease.
She shared her story for the first time today about her diagnosis with a rare neurological disease, KIF1A Associated Neurological Disorder (KAND)
“An extremely rare condition affecting approximately 400 people worldwide,” said McMackin. “Today, it is hard for me to walk and keep my balance. Standing still without holding on is really tricky,” she added.
On this Rare Disease Day, Charlotte and her family are telling their story to spark change and awareness.
“We must also on our own raise awareness, teach inclusion, train our health care providers and guide our educators,” said Charlotte’s mother, Dr. Naomi McMackin.
The Pennsylvania Rare Disease Advisory Council (PARDAC) advocates for individuals and caregivers year-round by working with the General Assembly and various state and private agencies.
“The Rare Disease Advisory Council was formed to become a voice for Pennsylvanians affected by rare disease,” said Jennifer Wescoe Singley, Secretary of PARDAC 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,” she added.
“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-Mercer) and Co-chair of the Rare Disease Caucus. “It’s our job working with Rare Disease Advisory Council to create pathways for quicker diagnosis, so patients can move forward faster.”
Rep. Longietti sponsored House Bill 1664 with Rep. Barbara Gleim (R-Cumberland). HB 1664 is the companion legislation to Senate Bill 196, introduced by Senator Judy Ward (R-Cumberland/Blair) Co-chair of the Rare Disease Caucus.
“We are committed on a bipartisan basis and working with the Council to bring attention and awareness every day of the year,” said Rep. Longietti.
We know there are immediate needs for the rare disease community now,” said Sen. Ward “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,” she added.
PARDAC is launching a patient needs assessment survey with the support of the Rare Disease Caucus co-chairs. The Council encourages those in the rare community to take the PA Rare Disease Statewide Survey to address the needs of every individual.
“As legislators, our job is to listen and learn about the constituents’ needs, said Rep. Barb Gleim (R-Mercer). “With the help of all those taking the survey, they will take the data to help to narrow gaps between where we are and where we need to be,” she added.
Whether it’s a survey, bipartisan legislation, or sharing your story for the first time, advocates are determined to help the rare community, and to ultimately find treatment.
“Having KAND does not define me. 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 that someday soon there will be treatment,” said McMackin.