Saud Anwar

SEN. ANWAR JOINS PATIENTS, PROVIDERS AND ADVOCATES TO HIGHLIGHT RARE DISEASE ADVISORY COUNCIL

Today, State Senator Saud Anwar (D-South Windsor), fellow legislators, and patients, caregivers, health care professionals and advocates, came together at the Legislative Office Building in Hartford to recognize the newly created Rare Disease Advisory Council at the Capitol. This year also marks the 40th anniversary of the Orphan Drug Act of 1983, which was developed to improve the development of drugs to treat rare diseases, and the event was initially scheduled for February 28, the 15th anniversary of Rare Disease Day, before inclement weather forced postponement.

Speakers today worked to raise awareness of rare diseases and the Council, including means that would provide better support including genetic testing for earlier diagnoses of illnesses in critically ill children to reduce state health care costs and to expand research on rare diseases to develop therapies and grow business in the state. They thanked members of the Legislature for creating the Rare Disease Advisory Council and thanked the Department of Public Health for 60 years of helping the community through programs including newborn screening, genetic screening for rare cancers and Sickle Cell awareness, among many other advances in monitoring, identification and treatment of rare disorders.

Speakers included Dominic Cotton, parent of a child with a rare disease; Annissa Reed, Associate Director of State Policy for the National Organization of Rare Disorders; Dr. Joann Gell, MD, research scientist at The Jackson Laboratory and pediatric hematologist-oncologist at Connecticut Children’s; Candice Flewharty and her daughter Marguerite Brown, who lives with the rare condition phenylketonuria; and James Rawlings, CEO and President of the Connecticut Chapter of the Sickle Cell Disease Association of America. Dr. Gell and Rawlings have both been appointed to the Rare Disease Advisory Council.

Gell spoke on hopes that the council can advance awareness and testing for equitable access to therapies and genomic tools like biomarker testing and rapid genome sequencing to achieve quicker diagnoses and therapies, reducing costs of care in the process; Flewharty and Brown spoke on their experiences navigating treatment for phenylketonuria, or PKU, which both Brown and her brother were diagnosed with as newborns and whose condition requires them to eat necessary medical food, which can cost significant amounts; Rawlings spoke on the need to raise awareness of conditions like Sickle cell, one of many rare diseases that impact the most vulnerable in the community.

“Millions of Americans, and countless Connecticut residents, experience the difficulty of living with rare diseases. What they all have in common is that we can do more for them, which is why I’m so glad we’re discussing the Rare Disease Advisory Council,” said Sen. Anwar. “This new council will hear directly from patients, medical professionals and advocates about best practices and how we can improve their daily lives. I’m looking forward to the advances we’ll find in coming years thanks to their hard work.”

“NORD is incredibly grateful to the coalition of lawmakers, patients, caregivers, and other members of the rare disease community who worked together to establish a permanent Rare Disease Advisory Council here in Connecticut,” said Peter L. Saltonstall, President and CEO for the National Organization for Rare Disorders. “NORD has its roots in this state – through our founder, Abbey Meyers, and our founding here nearly four decades ago. It’s incredibly empowering that Connecticut will have a permanent RDAC to help give its residents a stronger voice in their government and provide further partnership opportunities to support our rare community.”

In 2022, Connecticut lawmakers passed a law creating the Rare Disease Advisory Council at the state Capitol. This group will operate indefinitely to address the needs of the rare disease community, including giving formal recommendations to state agencies and lawmakers on public policy and health care proposals that will improve the lives of those impacted by these diseases. Connecticut became the 23rd state to have such a council in 2022.

Tuesday also featured a Legislative Breakfast at the Capitol with lawmakers and members of and advocates for the rare disease community, allowing for lawmakers to learn firsthand about the need to raise awareness of medical conditions among state agencies, the medical community and the public. Those with rare diseases seek insurance coverage for genetic testing or medical food therapy, the need for access to care including medication and therapy, the need for more specialists in Connecticut to treat these patients and the need to expand research on these diseases, among other potential advances.