The Gaucher Community Alliance undertook a survey of its community to evaluate patient satisfaction with specialty pharmacies. The valuable insights garnered from the survey offer opportunities for enhancing patient satisfaction and provide input for decision-making for specialty pharmacies.
Gaucher patients have many daily struggles and the Gaucher Community Alliance believes that working with specialty pharmacies to improve services can alleviate frustration and stress related to receiving treatment. We hope that our specialty pharmacies will be interested in listening to patients and improving their care.
The Gaucher Community Alliance surveyed patients and families affected by Gaucher disease types 2 and 3 to better understand challenges accessing treatment. The survey found that many patients and families experienced significant difficulties obtaining treatment, often due to insurance restrictions and FDA labeling limitations. Delays in treatment access created additional stress and burden for patients and families, even when treatment was considered medically important. These findings highlight the need for greater alignment between treatment access, clinical evidence, and the needs of patients with neuronopathic Gaucher disease. The Gaucher Community Alliance hopes these findings will help inform efforts to improve treatment access and reduce barriers for patients and families.
The Gaucher Community Alliance examined geographic disparities in newborn screening for Gaucher disease across the United States. While newborn screening can support earlier diagnosis and treatment, screening practices vary significantly by state, meaning that access to early detection can depend on where a child is born. The poster highlights the impact of delayed diagnosis and barriers to care, as well as the feasibility of incorporating Gaucher disease into existing newborn screening programs. Data from states already screening for Gaucher disease demonstrate the potential to identify affected infants and support earlier intervention. The Gaucher Community Alliance believes that expanded newborn screening and stronger, patient-centered policies can help create more equitable access to early diagnosis and treatment for families across the country.
The Gaucher Community Alliance hosted its first Teen and Young Adult Advocacy Retreat in Washington, DC, bringing together more than 30 young people and families from across the United States. Participants received advocacy training, practiced sharing their personal stories, and met with members of Congress and congressional staff to discuss issues affecting the Gaucher community. More than 20 congressional meetings were held, with discussions focused on newborn screening, Medicare home infusion coverage, NIH research funding, and Medicaid. Beyond legislative advocacy, the program helped participants build confidence, leadership, communication, and teamwork skills while connecting with peers who share similar experiences. The program demonstrated the importance of creating opportunities for young people with Gaucher disease to develop their voices and become advocates for their community.
