Amy believes “patient advocacy has always been the core of the NGF. At its essence, patient advocacy entails supporting and empowering patients through a variety of activities – awareness building, education, and connection to resources – which lead to patient empowerment.” Due to the tremendous scientific advances and successes, the NGF has shifted its attention from funding research to further patient advocacy efforts.
Patient advocacy has always been the core of the NGF. At its essence, patient advocacy entails supporting and empowering patients through a variety of activities – awareness building, education, and connection to resources – which lead to patient empowerment.
The NGF now prides itself on imparting fundamental education throughout the Gaucher community through specialised programmes focusing on achieving and maintaining optimal health. The NGF is proud to be a leading, reputable source to spread awareness of Gaucher disease to a global audience across its various platforms and through engaging with patients, physicians, and researchers. Through its CARE Foundation, the NGF offers eligible individuals financial assistance enabling them to afford health insurance so they can achieve their optimal health.
The National Gaucher Care Foundation: striving for equitable care for people with Gaucher disease
The National Gaucher Care Foundation is a subsidiary non-profit foundation of the NGF. This US-based financial assistance programme aims to ensure those who live with Gaucher have equal access to optimal medical care and disease management.
Individuals living with Gaucher who qualify for assistance can apply for support through a grant to help cover medical costs, such as health insurance premiums, or specific Gaucher health-related out-of-pocket expenses, such as travel expenses for medical trips.
The NGF – a platform for trusted co-created information
Bridging the gap between individuals living with Gaucher and medical professionals in the field through collaborative education strategies is a key aim of the NGF. It provides trusted information to its community, predominately via a monthly blog, digital newsletter, and the NGF website, which is newly redesigned.
The NGF continuously looks for innovative ways to present information and focuses on distributing content that is current and relevant to the community it has built. By circulating this content, which the NGF often creates in collaboration with experts on its medical advisory board, the NGF hopes to generate increased awareness.
Diagnostic initiatives in Gaucher disease
As a rare disease, Gaucher can often be under-recognised by physicians. All too often, the array of symptoms experienced coupled with physicians unfamiliar with Gaucher disease can lead to years of being undiagnosed or misdiagnosed. The NGF is working to help address this through educational content on disease symptomology, for both the Gaucher community and medical professionals.
Through increased awareness of symptoms and available testing we have an opportunity to make a big difference to speed of diagnosis.
Greater awareness around Gaucher disease, including diagnostic testing, is paramount. Gaucher disease can be diagnosed through a simple, blood test. However, all too often with little knowledge amongst medical professionals, individuals often experience invasive and unnecessary testing pre-diagnosis. Amy shares, “through increased awareness of symptoms and available testing we have an opportunity to make a big difference to speed of diagnosis.”
What does the future hold for NGF?
The NGF focuses its efforts on patient advocacy to ensure those living with Gaucher are provided with all the necessary means to optimise their health.
Providing the Gaucher community with information about the disease, disease management, and ongoing research is essential. “Effective advocacy entails listening, ascertaining needs, identifying solutions as well as thoughtful implementation and response. The outcome is patient empowerment.” The NGF strives to empower the Gaucher community, thereby enabling its individuals to be more involved with their post-diagnostic journey and to make more informed decisions on their disease management.
The NGF remains committed to perpetuating attention to research as well as apprising the Gaucher community of these advances and clinical studies. Though there are effective treatments, there remains an unmet need, such as for those with neuronopathic Gaucher, type 2 and 3. “Current treatments, both Enzyme Replacement Therapy and Substrate Reduction Therapy, have some limitations. While the visceral impact of the disease is largely improved by these treatments, they are unable to effectively cross blood-brain barrier and address the neurological impact of types 2 & 3. Additionally, while current treatments will prevent further bone deterioration, they do not reverse bone damage that has occurred prior to initiation of treatment or prevent bone issues arising from the initial damage.”
We have a responsibility to our Gaucher community to be an unbiased, authority in terms of educational information and resources across different populations globally.
Amy passionately acknowledges that each person living with Gaucher is an individual who should be treated as such: “Gaucher is one part of a person’s being,” Amy explains, “it’s part of what makes them unique, but there are so many other things that make them unique too.”
The NGF wants to encourage people with Gaucher disease to initiate conversations with their own clinicians or Gaucher specialists, in order that they receive a personalised medical care plan that ensures their optimal health.
Rare Revolution Editor