PARDAC was created through legislation (House Bill 239) and signed into law as Act 14 on July 7, 2017, by Governor Tom Wolf. The council consists of the secretaries of Health, Human Services, and Education (or their designees), the Insurance Commissioner (or his/her designee), and members of the public, including various health practitioners, health insurers, researchers, parents of children with rare diseases, self-advocates and others with expertise in providing care to individuals with rare diseases.
In 2012, researchers at the Archeological Museum in Zagreb, Croatia reported results of a diagnostic analysis performed on a mummified Egyptian man who died in his 20s approximately 2,900 years ago. Radiographic analysis revealed lesions throughout his spine and skull. They arrived at a diagnosis of Hand-Schuller-Christian disease (Langerhans cell histiocytosis), a rare disease with an incidence estimated to be 3 to 5 per million children and 1 to 2 per million adults. This would meet our definition of rare disease, which is a disease or condition that affects fewer than 200,000 individuals living within the United States.
Given its rarity, it’s likely his physician had never seen such a case and had little to offer other than symptomatic relief from bone pain and other manifestations of this rare disease. One can imagine the consternation of the physician and the despair of the patient who succumbed to the illness at an early age.
While there have been breathtaking advances in medical care in the last three millennia, it is also true that, for many of those who suffer from a rare disease today, their experience may likely be similar to this rare disease victim in ancient Egypt. Whether due to violence caused by a misstep in the dance of genes or misfortune otherwise acquired, the burdens placed upon those affected are profound and are multiplied by delays in diagnosis, absence of curative treatments and struggles with barriers placed before them. In recognition of the desperate need of these members of our community and with a sense of compassion and urgency, the Pennsylvania Legislature passed House Bill 239 to establish the Rare Disease Advisory Council.
The Rare Disease Advisory Council Act, Act 14
The Rare Disease Advisory Council Act, Act 14, was enacted on July 7, 2017, by Pennsylvania Governor Tom Wolf. The Secretary of Health, Rachel L. Levine, M.D, designated Bureau Director Tomas J. Aguilar from the Department of Health as the Chair.