Rare diseases affect approximately 25 to 30 million people in the United States – and that includes Delaware.
People with rare diseases are often faced with challenges in obtaining a correct diagnosis and finding treatment.
James Dechene’s daughter Cassie is one of about 100 people worldwide with a mutation on her CHD4 gene. She is the only known individual with her specific mutation.
Dechene says their journey has been difficult.
“Trying to make sure that we have found the proper support for her. Making sure she is able to live her best life,” said Dechene. “It has been challenging at times to have a kid that is so very rare. And trying to get the right genetic testing done to find out what therapies there could possibly be. How you can get the best gene therapies and prescription therapies.”
In Delaware, a lack of resources has forced patients with rare diseases like Cassie to seek diagnosis and treatment in surrounding states.
State Senator Nicole Poore is the prime sponsor of legislation that would establish a Rare Disease Advisory Council – a step she says could lower barriers to in-state care.
“I think that we are a well-rounded state. We offer so many options here. And it is great to be where we are located, because you can get to so many medical centers, but we need to provide the tools in the state of Delaware. And by establishing this council we’re on the right path to making sure people can get the right diagnosis in Delaware, that they can have a voice, and that they can be heard.”
If passed, SB55 would establish a Council composed of qualified professionals and individuals living with rare diseases.
Staffing support for the Council will be provided by the University of Delaware Institute for Public Administration.
The 14 members will include a representative from an academic research institution in the state that receives any grant funding for rare disease research, a member of the Delaware House of Representatives, a member of the Delaware State Senate, the Secretary of the Department of Health and Social Services, the Insurance Commissioner, a geneticist that is licensed and practicing in Delaware, a registered physician, nurse, or advanced practice registered nurse licensed and practicing in Delaware with experience treating rare diseases, a hospital administrator from an acute care hospital in Delaware, a pharmacist with experience dispensing drugs used to treat rare diseases, a member of the scientific community who is engaged in rare disease research, and two Delaware residents who have a rare disease, or have experience caring for a person with a rare disease.
The council’s goal is to improve the lives of Delawareans living with rare diseases through education and advocacy.
Its tasks include, but are not limited to, working to secure funding for the development of new treatments, making information and resources regarding rare diseases more accessible, and reducing health disparities in the research, diagnosis, and treatment of rare disease in Delaware.
Nemours Children’s Health works with patients with rare diseases, and hope that the creation of this Council will help them advance their treatment options by providing advocacy and facilitating cross-communication between medical providers.
Along with their work in the community, the Council must submit a report to the Governor every 3 years on its findings and recommendations.
SB 55 unanimously passed in the Senate Thursday, and now heads to the House for consideration.
