Written by Lisa Yen, NP, NBC-HWC - February 28th, 2019
Rare Disease Day is recognized every year on the last day of February to raise awareness of rare diseases. While having a rare disease might not feel like a cause for celebration, it is an occasion for recognition!
What is a Rare Disease?
A rare disease is a disease that affects a small percent of the population. In the United States, a rare disease is defined as one that affects less than 200,000 people at any given time.
Delayed diagnosis (34% report >5 years for proper diagnosis with NET)
Health care providers have limited knowledge of their disease
Barriers to accurate information and education about the disease and access to NET specialists
Limited treatment options
Decreased quality of life
Increased financial costs related to traveling to see specialists and for medical care and treatment
Impacts the emotional health of the patient and their family/friends as well as the relationships with family/friends
Difficulty establishing trust with providers due to above-cited issues
HOW RARE IS NET?
NET affects 6.98 in every 100,000 people.
Midgut and pancreatic (also known as in gastroenteropancreatic) NET make up about 3 in every 100,000 people a year.
When you hear hoofbeats…
During their training, physicians are taught the mantra, “When you hear hoof beats, think horses, not zebras.” This means that symptoms are more likely to be caused by more common diagnoses rather than rare diseases. The zebra has become the mascot of the NET community as a representation of the rare disease status of NET. Each zebra’s unique pattern of stripes also speaks to the uniqueness of each NET patient’s disease and journey.
Why Recognize Rare Disease Day?
Rare disease day is an opportunity to celebrate progress.
There are many to celebrate:
ASCO recently named progress in treating rare cancers as the Advance of the Year. One of the specific advances highlighted was the FDA approval of Lutetium 177 or Lu-177. Patients often refer to this treatment as PRRT (Peptide Receptor Radionuclide Therapy). It is how the drug, Lutetium 177, is delivered. Read the section titled, "New Radiolabeled Drug Substantially Lowers the Risk of Progression or Death in Patients with Midgut Neuroendocrine Tumors" by clicking here. Click here to watch a video on how PRRT works.
Celebrate the recent progress in the NET research made possible by NETRF, the leading private funder of neuroendocrine cancer research.
This article summarizes NETRF’s progress this past year.
NETRF continues to build on the ground-breaking FDA approval of Lutetium 177 (the above noted ASCO Advance of the Year) by investing research dollars to take it to the next level. In other words, PRRT, the mode of delivering the treatment, compared to an automobile. Then Lutetium 177 is like the Ford Model T, the first type of car available in the USA. Now, there is work being done to create many other types of cars in different models and styles. Click here to read more about ongoing PRRT research.
Recently, NETRF demonstrated its commitment to finding more treatment options for NET patients by awarding eight new grants for neuroendocrine cancer research totaling $2.5 million. To read more, click here.
Rare disease day is a reminder that we can also join the research effort.
Mitchell Berger, a patient advocate, NET patient, and the leader of Metro DC area neuroendocrine cancer support group Capital Area Carcinoid Survivors or CACS, recently shared news of a new research study dubbed by patients as, “The Rare Tumor Clinic.” It is a publicly-funded research effort to better understand rare cancers and hereditary cancer syndrome. The National Cancer Institute (NCI) of the U.S. National Institutes of Health (NIH) has begun enrolling participants in a clinical trial titled “Natural History and Biospecimen Acquisition for Children and Adults With Rare Solid Tumors.” It is part of the “Cancer Moonshot,” a NIH initiative to accelerate cancer research aims to make more therapies available to more patients, while also improving our ability to prevent cancer and detect it at an early stage. Click here for a patient-friendly explanation of the study. Click here for the link to the protocol for the trial.
For more about NET:
The blogpost Queen of Soul Aretha Franklin Died of Pancreatic Neuroendocrine Cancer explains why neuroendocrine tumor of the pancreas is not simply a “rare form of pancreatic cancer” and why this distinction matters.