National Gaucher Foundation: 2018 Year in Review
The end of a year is always a mix of emotions as people look back over what was and ahead toward what is to come. At the National Gaucher Foundation, we’re reflecting as well.
NGF’s Look Back at 2018
We’re proud that we have made a positive impact on the Gaucher community, through various initiatives, advocacy, and support.
Engaging with the incredible people in our community makes it possible for us to provide this ongoing support. Interactions with patients and families happen every day, in smaller settings, such as one-on-one conversations, and through larger forums, like group meetings or discussions on social media.
Interacting with our community is at the crux of what we do: Speaking directly to the people affected by Gaucher disease, listening to their feedback, and hearing their concerns enables us to provide meaningful content, programs, and initiatives that can help people live better. We constantly assess data—from the Gaucher community and beyond—for insights on how to tweak and improve our programming.
Looking ahead, we’re prepared to try new ideas and tackle challenges while continuing to provide exemplary services as well as increase our education and awareness efforts. We’re excited to continue to engage with our community—whether through social media, on the phone, or in person—allowing us to best provide valuable services, information, and programs.
To our Gaucher community, we deeply appreciate the opportunity to work alongside you, and we value your continued enthusiastic engagement and support:
We are grateful for the time you dedicate—online, in person, or both—to participate in our programs, provide feedback, help raise awareness of Gaucher disease, and support other members of our community.
We are so thankful for the money you’ve raised or donated, in both large and small amounts, that is so critical to sustaining our programs.
Our partnership with the Gaucher community helps make these accomplishments possible. Here’s a look back at some of our achievements from the past year.
Optimal Health Initiative: Living Well With Gaucher Disease
What does it mean to achieve “optimal health” for someone with Gaucher disease (GD)? The answer is different for everyone—but NGF will help individuals find out what it looks like for them.
Our Optimal Health Initiative connects patients with Optimal Health Advisors who help people improve their well-being and overall health. We offer this service to people at no charge.
These advisors are licensed social workers familiar with Gaucher disease. They understand the disease and the various ways it may affect people’s lives. The advisors, who are familiar with the programming available through NGF and other sources, can connect people and families with an array of valuable resources to help them live well.
In talking to people and families, our advisors learn how we can enhance our programs and support. They listen to people’s concerns or needs and share the feedback with the NGF team. We use that information to help us refine and improve our content and services so we can better meet the needs of the Gaucher community.
Optimal Health Advisors: Connecting patients to Gaucher specialists
Perhaps the most important way our advisors help ensure that patients with GD achieve and maintain their optimal health is by connecting them with a Gaucher specialist. These specialists are a critical part of the care team, because they look at the big picture of care and help people make healthcare decisions that can improve their quality of life.
Since we began the Optimal Health Initiative, more than 250 patients or caregivers have been in touch with our advisors. Many of the patients did not have a Gaucher specialist on their care team. After reaching out to our advisors, they realized the impact a Gaucher specialist could have on their health and well-being.
About 15% of these patients—approximately 40 people—have since added a Gaucher specialist to their team to provide ongoing care and disease management.
We launched a new Ambassador Program this year—and it succeeded beyond any of our expectations. We were blown away by the excitement and engagement surrounding it and are thrilled to incorporate this program into our education and awareness efforts.
What is the NGF Ambassador Program?
Our Ambassadors represent NGF, raise awareness, and connect to people with GD. They are examples of the many faces of the Gaucher community, each possessing a unique journey.
Ambassadors either have Gaucher disease or are parents of a minor child who has the condition. Each applicant submitted a short essay describing why they wanted to serve as an Ambassador.
The essays we received were incredibly moving and demonstrated distinct experiences, bound together by the commonality of living with Gaucher disease. Each Ambassador expressed a desire to raise awareness of GD, support others, and develop friendships.
Ambassadors who live with Type 1 Gaucher disease also wanted to inspire others by example, demonstrating how they achieve NGF’s goal to “live a better today.” And those who represent the Type 2 Gaucher community were passionate about raising awareness of the need for continued research for treatments that can cross the blood-brain barrier.
In 2018, Ambassadors received a stipend to travel to New York City to attend NGF’s “Ask the Experts” Panel Discussion & Champagne Dessert Reception. They met other patients, and a few Ambassadors spoke directly with the teens who attended the Teen Meetup. We always strive to make those connections among people in the Gaucher community, so they can support and guide each other.
Throughout the year, our Ambassadors will continue to share their stories, encourage others who have Gaucher to optimize their health, and help raise awareness about Gaucher disease.
Diagnostic Initiative: Diagnosing Gaucher Disease
An early diagnosis provides people with the opportunity to receive proper, timely disease management.
The goal of our diagnostic initiative is to shorten the often lengthy diagnostic journey individuals experience. It can take five to eight years from the time someone seeks care for signs of Gaucher disease until they obtain an accurate diagnosis. And frequently, health insurance does not cover diagnostic testing for Gaucher disease.
Our Optimal Health Advisors help people navigate—and shorten—the process:
- Physicians who are considering Gaucher disease in their differential diagnosis can contact an Optimal Health Advisor to obtain a requisition order for this testing, at no cost to the patient.
- Siblings of someone diagnosed with Gaucher disease who haven’t been tested can speak with an Optimal Health Advisor to receive this testing at no cost.
NGF’s education and awareness campaigns are often the first entry point for people to get the necessary care. Through our programs, many people learn about the signs and symptoms of Gaucher disease and reach out to speak with an Optimal Health Advisor to discuss their concerns. If appropriate, they will be tested at no cost. The test is a simple blood draw done in a local doctor’s office or lab.
We also continually seek out new ways to meet our community where they are by considering their needs and preferences. Some people have large families or other situations that make it difficult for them to get to a lab. We work with them in a sensitive, respectful manner to provide the diagnostic care they need.
This diagnostic initiative has made a big impact. Our Optimal Health Advisors were in touch with many people over the past year. Of those contacts, 75 individuals had symptoms consistent with Gaucher disease or were a sibling of a person with GD and had yet to be tested. These 75 people received enzyme analysis and gene sequencing if appropriate.
- 15 of them were diagnosed with Gaucher disease.
- Another 15 were identified as carriers of GD.
Carrier Screening: Find Out GD Carrier Status
As part of our ongoing efforts to raise awareness of Gaucher disease, we partner with JScreen to make carrier screening as easy and convenient as possible. People can screen for a panel of more than 200 genetic diseases, including Gaucher disease, with no out-of-pocket costs for the individual.
The screening process is simple. People can:
- Request a screening kit.
- When the kit arrives in the mail, they supply a saliva sample and send it back.
- A JScreen genetic counselor will reach out to the individual when the results are in to schedule a confidential call to discuss the results.
This program, which is barely two years old, has helped many people get critical genetic information:
- 1,600+ individuals screened at no cost.
- 1,200+ individuals identified as carriers for at least one disease on the panel.
- 90+ individuals identified as carriers of GD.
- 4 people identified as having GD.
Having this genetic data empowers people to make informed decisions, take charge of their healthcare, and plan for their future.
CARE Programs: Helping the Underinsured Receive Care for Gaucher Disease
At NGF, we help people receive necessary care for Gaucher disease, regardless of their insurance coverage. Through our CARE Program, eligible individuals can receive financial assistance for insurance premiums.
The program provides assistance to patients in the U.S. with Gaucher disease who can demonstrate extraordinary financial hardship in paying for eligible Gaucher-related expenses. It does not matter which drug an individual’s physician has prescribed, or whether a person is currently undergoing therapy.
And our CARE+ program helps cover additional services, including costs related to Gaucher disease that are not covered by insurance. These services include infusion charges for enzyme replacement therapy, over-the-counter medications for GD, and travel expenses for one visit per year to a Gaucher disease specialist.
Through our CARE programs, about 200 patients every year receive assistance with insurance premiums to ensure they have access to proper disease management.
Annual Patient Symposium
We strongly believe in education, including ongoing education for those living with Gaucher disease. The Annual Patient Symposium provides an opportunity for patients and caregivers to meet, interact, and learn from Gaucher experts on a variety of topics.
Over the past three years, attendance at the symposium has more than tripled to nearly 200, with hundreds more joining via livestream.
To the Gaucher Community: Thank You
2019 will be a milestone year for NGF—our 35th anniversary! Thank you for the privilege of being by your side over the past few decades. Your engagement, support, and generosity continue to empower us to create a better today for Gaucher patients and their families. This partnership is what motivates us as we head into the new year.