2023 Annual Impact Report
A Year of Meaningful Impact
Welcome to the National Gaucher Foundation's 2023 Impact Report
The National Gaucher Foundation (NGF) is an independent nonprofit dedicated to serving U.S. patients with Gaucher disease and their families. Through financial support, educational programming, patient services, and collaboration with medical professionals, the NGF empowers Gaucher patients to live a better today.
Testimonials
My family made the connection with the National Gaucher Foundation (NGF) through a Genzyme Case Manager.
Over the past 25-30 years, NGF has provided much needed financial support to my siblings. NGF helps with the high monthly premiums and other related expenses (such as medical travel) that my brother needs to obtain health insurance to receive care or manage the disease.
Without this financial assistance, the cost to manage his disease would be insurmountable for my family. Additionally, the Foundation has connected me with physicians specialized in Gaucher disease whenever he needed to relocate. Many years ago, it was difficult to find doctors specialized in Gaucher disease unless you were in a network, like NGF.
— Hermain Joseph, sister to two brothers with Gaucher disease
I got in touch with NGF before we moved from Argentina, and they were a great support for me and my family.
Besides my wife, 2 of my 3 children also have Gaucher disease.
Moving from another country is hard and getting accustomed to a totally new type of health insurance policies made it even harder, but NGF really helped us a lot through the whole process and even gave us financial support to pay our premiums, which are really high.
— Martin Perticone
Current Initiatives
Global Diagnostic Initiative
In 2023, NGF embarked on its biggest mission yet — taking its education and awareness campaigns to the entire world.
As part of this Global Diagnostic Initiative, Dr. Robin Ely — a founder of NGF and Clinical Consultant for the NGF Global Diagnostic Initiative — traveled across the world to help train and connect medical students and doctors to information about Gaucher disease.
Her travels led her to Dr. Uzima Chirwa, a Zambian doctor who had a young patient exhibiting signs of Gaucher disease, and to one of NGF's first international diagnoses.
It Was Simply Destiny
as told by Dr. Robin Ely
I was in Australia visiting medical colleagues and was invited to attend a fundraiser for an Israel-based organization called Healing Hearts.
Healing Hearts brings medical students from around the world and trains them in pediatric cardiothoracic surgery and anesthesia, allowing them to go back to their countries and open clinics and hospitals where none existed.
Destiny Kamonga
At the event, I met two amazing young people — one of whom was from Zambia. He and I became friendly and I told him about my background and the work I have been doing in Gaucher Disease, and that I wanted to learn more about the prevalence of Gaucher in various countries in Africa.
He subsequently introduced me to his friend Dr. Uzima Chirwa, Head of Pediatric Hematology of the University Teaching Hospital Children's Hospital in Lusaka, Zambia.
Dr. Chirwa had never seen a patient with Gaucher disease, but just days after we met, he texted me on WhatsApp and said, "You will not believe this, but I think I have just seen my first Gaucher patient!"
The patient was Destiny Kamonga, a 12-year old girl with all of the symptoms and signs of Gaucher disease. However, testing from a lab outside of Zambia only found one mutation and designated her as a carrier. Dr. Chirwa and I were convinced that she met all the clinical criteria for having Gaucher disease.
I sent Dr. Chirwa a dried blood spot card to collect a sample from Destiny, and after he sent it back, I sent it to Greenwood Genetics for analysis. Greenwood was able to find both pathological mutations, which confirmed the diagnosis of Gaucher disease.
Pending a further confirming result of a lyso-GL1 test, Destiny will receive VPRIV enzyme replacement.
The number of things that had to happen for Destiny to get diagnosed and treated for Gaucher disease is simply astounding, especially because the disease had not been seen by one of the most prominent Pediatric Hematologists in Africa!
It certainly felt that it was simply Destiny.
Partnership with Greenwood Genetic Center
In May 2023, NGF partnered with the Greenwood Genetic Center (GGC) Biochemical laboratory, a nonprofit in Columbia, SC that provides clinical genetic services, diagnostic laboratory testing, educational programs and research in the field of medical genetics. GCC is the lab that facilitates NGF's Global Diagnostic Initiative.
NGF needed a laboratory partner that could facilitate patient referrals by Dr. Robin Ely for testing for Gaucher disease. GGC laboratory can provide diagnostic and screening test kits for a variety of inherited metabolic disorders, including inborn errors of metabolism, lysosomal storage diseases, and mucolipidosis.
Greenwood Genetic Center's comprehensive ability to provide diagnostic testing for all stages of life was the clear choice for diagnosing and understanding genetic disorders.
GGC's focus on care and genetic discovery — in addition to their latest in diagnostic testing advances — enabled Dr. Ely's patient referrals to receive a comprehensive and detailed lab result report that she could review and share her findings with each patient and their families.
Digital Marketing Engagement
2023 Results and Stats
5,200+
Email Subscribers
100+
Instagram Posts
600+
LinkedIn Followers
3,000+
Facebook Likes
Major Growth in 2023
735%
Increase in Facebook Reach
155%
Increase in Instagram Reach
Top Website Content
Education & Awareness
Treatment Finder
NGF's Treatment Finder, which includes more than 50 Treatment and Comprehensive Treatment Centers across the country, is continually updated to ensure it reflects the most accurate information available, including:
- Number of Gaucher patients
- Types of Gaucher patients (infants, children, adolescents, adults, geriatrics)
- Average patient wait time
- Services available
- Specialists working at the Center
Website users can search for a specialist by their speciality, enter their location to find the closest center, or enter the last name of a specialist.
In 2023, NGF highlighted a number of important issues for Gaucher patients and their families, sharing stories and the latest advances in diagnostics and treatment.
Gaucher and Pregnancy: What One Woman Learned From Five Pregnancies
Pregnancy can be hard to imagine when you live with Gaucher disease. The disease can be draining and painful and requires a commitment to self-care — factors that don't always make for an easy pregnancy.
But Caryn, 42, has balanced the demands of Gaucher disease with pregnancy ... five times.
Advances in Gene Therapy for Gaucher Disease
Gaucher disease involves a genetic mutation that causes a build-up of the fatty chemical glucocerebroside. Current Gaucher disease treatment options create workarounds to help your body cope with excess glucocerebroside:
- Enzyme replacement therapy (ERT) helps your body break down glucocerebroside
- Substrate reduction therapy (SRT) reduces how much glucocerebroside your body makes
But there is a third treatment option on the horizon called gene therapy.
Your Guide to Genetic Carrier Screening for Gaucher Disease
Approximately 1 in 10 Jews of Ashkenazi (Eastern European) descent and 1 in 200 people in the general population are Gaucher disease carriers. As a carrier, you don't have symptoms or the disease itself — you may not even know you carry the disease. But there's a chance you'll pass the Gaucher gene to your child.
The only way to know if you're a Gaucher disease carrier is to undergo genetic disease carrier screening. While the process can seem overwhelming, knowing your carrier status can help you make decisions about your future.
Should you Consider Self-Infusion for Enzyme Replacement Therapy?
For many people living with Gaucher type 1 or type 3, enzyme replacement therapy (ERT) is the best treatment option. Getting an intravenous (IV) infusion for an hour or two, every other week can be essential for ongoing health and quality of life. It can even become routine.
The thought of administering your own IV therapy may seem daunting. But there are benefits to self-infusion.
Patient Stories
The Gaucher community is front-and-center on the NGF website, and we are honored to share the stories of patients and their families as they go on their Gaucher journey.
Gaucher Disease Awareness Month
Each October, NGF recognizes Gaucher Disease Awareness Month with special web content and digital marketing.
This year, we shared an episode of the morning show The Balancing Act, which released an episode called "Behind the Mystery of Gaucher Disease" as part of their recurring "Behind the Mystery" series that explains the complexities surrounding rare diseases.
This ground-breaking episode unites experts from patient advocacy, healthcare, and industry. It also showcases the poignant journey of Fan, an individual living with Gaucher disease, whose inspirational story offers hope for the patient community.
The episode covers important topics ranging from the current treatment landscape to the future of research, including groundbreaking research on gene transfer therapies aimed at reducing the need for frequent interventions and improving quality of life for people living with Gaucher disease.
The episode aims to demystify Gaucher disease and take the audience on a journey through the lens of awareness and advocacy, addressing its challenges along the way.
During the episode, we meet Dr. Ozlem Goker-Alpan, an expert in Gaucher disease and Founder and CEO of the Lysosomal & Rare Disorders Research & Treatment Center; Cyndi Frank and Aviva Rosenberg, Co-Founders of the Gaucher Community Alliance; Jim Howley, Global Lead of Patient Advocacy and Engagement at Prevail Therapeutics; and Fan, who was diagnosed with Gaucher at the age of two.
Watch Now
Staff
The National Gaucher Foundation has a dedicated staff who have lived and worked in the Gaucher community for years.
Brian Berman
President and CEO
Robin Ely, MD
Clinical Consultant
