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Jun. 20, 2018

TOPIC: Advocacy, Featured News

Last Rare Disease Day Event of 2018 a Success in Pennsylania

Posted by Laura Mullen

*The following article ran 6/19/2018 via Pennsylvania Legislative Services, an online legislative research, tracking, media, and analysis service providing access to Pennsylvania’s policy making process.

SUPPORTERS, LAWMAKERS CELEBRATE RARE DISEASE AWARENESS DAY

By Derek Snyder, Pennsylvania Legislative Services | June 19, 2018

Dozens of advocates joined in the Capitol this morning to support PA National Rare Disease Day and the more than 1.2 million people in Pennsylvania who are affected by a rare disease.

NORD's Rare Action Network (RAN) Rare Disease Day (RDD) PA event audience.

NORD’s Rare Action Network (RAN) Rare Disease Day (RDD) PA event audience.

Marie Conley, founder of The Conley Cushing’s Disease Fund, opened by thanking all of the attendees and by discussing Cushing’s disease and Adrenal Insufficiency, both of which she is affected by. Conley recognized a bipartisan group of legislators for their efforts in supporting people with rare diseases, including Rep. Steve Kinsey (D-Philadelphia), Rep. Ed Gainey (D-Allegheny), Sen. Lisa Baker (R-Luzerne), Rep. Mark Longietti (D-Mercer), Rep. Judy Ward (R-Blair), Rep. Kristin Hill (R-York), Sen. Mario Scavello (R-Monroe), Rep. Perry Warren (D-Bucks), and Rep. Joanna McClinton (D-Philadelphia).

Gracyn Smith, a 14-year-old diagnosed with Retinitis Pigmentosa (RP), a genetic vision disorder, sang God Bless the USA in the Capitol rotunda.

Kristin Smedley, Pennsylvania Rare Action Network State Ambassador, discussed her experiences in raising two children who were both born blind due to a rare disease. Smedley said that ten years ago, the door of hope opened up for people with rare diseases in Pennsylvania to get the help they deserved. ”That work, that hope launch, went all the way to the FDA (Food and Drug Administration), and created the first ever FDA-approved gene-therapy to treat an inherited disease, an inherited eye-disease,” added Smedley, remarking on the need to get to the finish line for all 7,000 rare diseases. Smedley said that it does not matter what side of the aisle someone is on or what part of the state they are from, just that “rare disease patients matter.”

Rep. Marcy Toepel (R-Montgomery), House Chair for the Rare Disease Advisory Council of PA, spoke about the importance of rare diseases and how critical the involvement of people in supporting this issue is. Rep. Toepel spoke of a family who visited her after their son was diagnosed with a rare disease. In this visit, Rep. Toepel said, she became determined to help wherever possible, which included drafting HB 239 to establish the Rare Disease Advisory Council. Rep. Toepel described the challenges to find treatment and cures for the 30 million Americans who live with a rare disease, two-thirds of which are children. Rep. Toepel also sponsored measures for Rare Disease Awareness Day, which she was happy to be celebrating today.

Rep. Longietti echoed his support for Rare Disease Day and the work being done by the advisory council. Rep. Longietti said he was encouraged by the amount of patients and advocates that came to support this cause, and looks forward to finding ways to better help people with rare diseases. Rep. Longietti said what it simply comes down to is: “Do we have the capacity to care for our fellow citizens?”

Sen. Baker noted that rare diseases are not something that readily occur to many people, but the numbers show that more individuals are touched or affected by these diseases than people would think. Sen. Baker said that she is inspired to see people who overcome the limitations and challenges imposed by the various diseases, and shining the spotlight on rare diseases is very important. In working with the newly established council, Sen. Baker added that there will be a platform for solving the issues presented with rare diseases. Sen. Baker closed by recognizing the courage of rare disease patients and advocates who are working to benefit the lives of others.

NORD's Rare Action Network (RAN) Rare Disease Day (RDD) PA Event welcomed Representative Marcy Toepel.

NORD’s Rare Action Network (RAN) Rare Disease Day (RDD) PA Event welcomed Representative Marcy Toepel.

Conley thanked Gov. Wolf for his support in developing the council and ensured that the group will bring together a good variety of stakeholders. Conley discussed some of the struggles that rare disease patients have in common, noting that they do not really complain for themselves, but instead want to make things better for others.

Dr. Marjorie Dejoie-Brewer, a sickle cell patient and the medical director for the Sickle Cell Disease Association of America/Philadelphia, said that she believes nothing happens by coincidence, noting the fact that today was also the celebration of Sickle Cell Disease Day. Dr. Dejoie-Brewer expressed her gratefulness to the organizations and sponsors who were in attendance, and said that it was because of that gratefulness that she has developed a desire to help others suffering from rare diseases. Dr. Dejoie-Brewer said that living with Sickle Cell Disease is a minute to minute battle, and that she hopes that through the work of the advisory council, the burden will be lightened for others with rare diseases.NORD’s Rare Action Network (RAN) Rare Disease Day (RDD) PA.

Melanie Swick, a representative for the National Organization for Rare Disorders (NORD), acknowledged legislators for their support, with special thanks given to Rep. Toepel, who was recently recognized by NORD and awarded the Rare Impact Award for National Health Leader. Swick said the voices of rare disease patients must be used to improve the lives of patients across Pennsylvania. Swick noted there are still many different areas that could improve the lives of rare disease patients, and said that legislators might also enact legislation that could unintentionally cause harm to individuals with rare diseases, such as adding work requirements to Medicaid.

Robert Lutz, CBO for Strongbridge BioPharma, discussed the passion that Strongbridge has in developing and offering drugs that help treat rare diseases. Lutz talked about his daughter, who suffers from a rare disease, and how she has just graduated from high school, an accomplishment that is not always a given for rare disease patients. Lutz said that he has seen how important it is to have the support from both government and private companies, and that his company looks forward to partnering with legislators, advocacy groups, and all other stakeholders in supporting rare disease patients.

Rachel Wiggins, the mother of four-year-old Cooper (who suffers from Glycogen Storage Disease), discussed some of the constant struggles Cooper faces on a regular basis. These struggles include anywhere from five to thirty blood sugar checks every day to make sure his blood sugar does not get too low. Wiggins said that in order to keep Cooper alive and healthy, her family requires a lot of financial and physical support, including various therapies, nursing care, and supplies and equipment that are vital to his health.


Mark your calendars – Rare Disease Day 2019 will be Thursday, February 28.
Click here to sign up for updates on Rare Disease Day 2019.