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National Gaucher Foundation
2024 Impact Report
Welcome to the National Gaucher Foundation's 2024 Impact Report!
Brian Berman
President and Chief Executive Officer
National Gaucher Foundation
Throughout 2024, one thing became crystal clear - the growing impact and the growing level of connection that NGF brings to the global Gaucher community.
From a historic trip by NGF co-founder Dr. Robin A. Ely to India on behalf of the new National Gaucher Foundation Global Diagnostic and Treatment Initiative, to the launch of a new connected community online, our year was spent increasing our reach and helping more patients and their families find the support and resources they need as they go on their journey.
NGF has always prided itself on finding a way to support Gaucher patients and those who love them with news on the latest treatments, research, and opportunities to live a better today, and in 2024, it's clear that that mission successfully continued.
I invite you to review our year of impact, and to remember that your contribution to our community makes a difference.
2024 Initiatives
NGF Global Diagnostic and Treatment Initiative Expands, Heads to India
In 2023, NGF launched its Global Diagnostic and Treatment Initiative to support Gaucher patients and their families throughout the world. The first person diagnosed as part of the initiative was Destiny Kamonga, a 12-year-old girl from Zambia.
NGF Co-Founder and Clinical/Science Advisor Dr. Robin A. Ely worked together with Destiny's physician, Dr Uzima Chirwa, to get her diagnosed and set for treatment. Here, she receives her first VPRIV infusion, provided by Takeda.
In January, Dr. Ely traveled to India to speak at the Indian Society of Human Genetics 2024 Conference. She shared her experience traveling abroad on behalf of NGF, and what she learned about the Gaucher and rare disease communities in India.
Dr. Ely's Story and Photo Journal
Read the full postWhen I arrived in Gujarat - a state on the West Coast of India - I immediately began to "see India." Literally hundreds, if not thousands, of people were waiting to greet their family members arriving at the airport. It was quite a sight.
The next day, I met fellow speakers also participating in the Indian Society of Human Genetics 2024 Conference; they had traveled from London, Geneva, and other parts of the world. We traveled to the Foundation for Research in Genetics and Endocrinology (FRIGE) house, where we toured the facility, drank tea, and I was interviewed by a journalist from a Gujarati news outlet.
On Sunday, the conference started with opening presentations, including some Hindu religious songs and speeches by notable government officials. I spent the day attending lectures and meeting with key Gaucher stakeholders...
NGF Community Launches on Facebook Groups
To further facilitate the connection between Gaucher patients and their families, in 2024 NGF launched the official National Gaucher Foundation Community on Facebook.
The group allows for the sharing of tips, resources, and stories, and is a private space for asking questions and getting advice for each member's situation. Discussion questions and important reminders are posted by NGF staff, but the focus is on the community - the group members who can connect with each other and provide support and inspiration to others.
Discussions that have happened in the group include:
- Can someone please explain what a bone crisis feels like?
- Do you limit alcohol consumption because of your Gaucher disease?
- Connections between Gaucher disease and fertility
- Is anyone a carrier, led a normal life, but in later life started to get symptoms?
- Has anyone done the genetic testing to find out if they are a carrier?
The Facebook Group continues to grow, with new connections, new resources, and new members making their impact.
Community Stories
Gaucher Journeys
We continue to highlight the stories and journeys of Gaucher patients and their families
NGF Community Members
The launch of the NGF Community on Facebook Groups wouldn't have been possible without dedicated members helping to get the conversation started and welcome new people with open arms. Two of our inaugural members share their stories:
Matthew Chavez
Hello I'm Matthew of Albuquerque NM. I have a long story, so I'll keep it simple. Diagnosed with Gaucher Type 1 in 2008 at the age of 21, the same year I started enzyme replacement therapy. Then re-diagnosed in 2009 with Type 3. That same year I suffered a chronic bone crisis and had a left total hip replacement due to the damage Gaucher disease had done through the years.
Throughout my 20s, I struggled with bad lifestyle habits and struggles to accept that I had a chronic disease. I didn't eat right, drank heavily, smoked tobacco, and used prescription pain meds to control pain and anxiety meds to control my moods. Being diagnosed with a chronic disease in your 20s can make you either lock yourself away or live like there is no tomorrow. Here I am now, 37 with a family. Making major changes to my lifestyle habits, feeling better now than I ever have in my entire life.
Avery Watson
Hi everyone! My name is Avery Watson, and my older brother Cameron Watson passed away from Gaucher Type II. I figured my first post would be my amazing parent’s story. It was one they never shied away from growing up, and led me to finding my dream career and passion for helping people.
LEARN MORE IN THE NGF COMMUNITYNews, Research, and Insights
Throughout the year, we continued to publish informative resources about therapies, treatments, and more on the NGF website.
New Research Paper Highlights Medical Cannabis to Alleviate Gaucher Disease Pain
NGF co-founder Dr. Robin A. Ely, in conjunction with Yehoshua Berman, Yosef Y. Scher, and Medical Advisory Board member Neal J. Weinreb published a paper reviewing an independent survey done on the use of cannabis for symptoms of pain and fatigue for people who use primary Gaucher disease therapies but do not get complete resolution of their symptoms.
The paper, available here, had the following aims:
Using an investigator-designed survey tool to confirm that adult patients with type 1 Gaucher disease (GD1) often self-prescribe cannabis products to try to alleviate symptoms such as lingering fatigue, chronic bone and joint pain, loss of energy, anxiety, and depression that persist despite enzyme replacement therapy (ERT) or substrate restriction therapy (SRT). Additionally, to explore whether patient reports of symptom relief and adverse side effects relate to frequency and duration of cannabis use.
Click here to review the paper and view the results.
Dr. Ely will discuss the paper as part of a poster presentation at WORLDSymposium, the annual research conference dedicated to lysosomal diseases, in February 2025 in San Diego.
Digital Marketing Results
5,500+
Email Subscribers
Nearly 200
Facebook Group Members
15.4%
Increase in Instagram Visits
Patient Testimonials
Alex
"We reached out to the National Gaucher Foundation through the Internet, looking for more people who are going through this experience. Since there is not much knowledge about treating this disease here in Ecuador, they helped me understand more about this little-known illness. That's how I contacted Dr. Robin, who has been very helpful to us with her knowledge and guidance in treating my son, who was very ill, with hemoglobin at extremely low levels. She recommended an alternative treatment, which is the consumption of ambroxol. This treatment has shown favorable results for my son. "
Rivka
"I got connected to NGF through Dr. Ely. Almost 2 years ago I just felt like I was in pain and tired and that my symptoms weren't being taken seriously so I turned to a more functional medicine approach and that's when I found Dr Ely who met with me and spent hours going over my labs and really listening to me as a patient."
Kammeron
"I've found the NGF website to be a valuable source of information and resources, and through the NGF, I was ultimately able to connect with Dr. Ely and obtain a diagnosis. I am especially grateful for Dr. Ely's guidance and support."
Staff Highlight
The National Gaucher Foundation has a dedicated staff who have lived and worked in the Gaucher community for years.
President and CEO
Co-founder and Clinical Director of the Global Diagnostic and Treatment Initiative
Program Manager