February 28, 2025 is rare disease day.
By definition, «rare» means uncommon. Unusual. Words you don’t normally think of when you’re thinking about your health.
But living with a rare disease is a reality for many people. Rare diseases affect 400 million people worldwide and 30 million people in the United States, meaning approximately 1 in 10 Americans live with a rare disease.
You’ve probably heard of some of the more well-known examples, such as cystic fibrosis and sickle cell anemia. But there are more than 10,000 rare diseases with more recognized every day. Some affect only a handful of people worldwide.
The path to diagnosis and treatment is often long and complicated for people living with a rare disease. «[A diagnosis] “It currently takes four to six years on average with thousands of patients annually remaining undiagnosed,” he said. Nicole BoiceFounder and Chief Mission Officer of Genes Global/Rare-X, a nonprofit organization dedicated to helping people with rare diseases.
The complexity of the condition and lack of known history can cause delays in obtaining the correct diagnosis and, in many cases, the disease is so rare that treatment options do not even exist. In the United States, only 5% of rare diseases have an FDA-approved drug for treatment.
Today, there are more than 10,000 known types of rare diseases. About half of people with rare diseases are children, and women are often the caregivers tasked with navigating the uncharted waters. «More than 80% of those we serve at Global Genes identify as women, mothers and caregivers,» Boice said.
Researchers predict that more people will be diagnosed with rare conditions as genetic testing becomes more accessible and knowledge of rare diseases continues to expand.
Here’s what you need to know if you or someone you know is living with a rare disease.
What is a rare disease?
A rare disease is determined by how many people are affected by the disease, and the definition can vary by country. In the United States, a condition is considered rare if it affects fewer than 200,000 people.
What are the challenges of being diagnosed with a rare disease?
On average, a person with a rare disease will see more than 10 specialists and have three misdiagnoses before getting the correct diagnosis. These delays can occur for several reasons.
A diagnosis can be complicated because the symptoms of the rare disease may look different from person to person. Symptoms may also resemble other conditions; people may have several symptoms that seem unrelated or may have an unusual presentation of a known rare disease. Rare diseases are usually diagnosed by exclusion, meaning that more common diseases are ruled out when trying to determine a diagnosis.
In many cases, delay in diagnosis occurs because healthcare providers (HCPs) do not have knowledge or experience with the disease because they do not see it very often or possibly have never seen it or even heard of it. «Clinically, doctors are taught to look for common illnesses when patients face challenges, [so] They spend a lot of time searching and trying everything that’s common,» Boice said.
There are unique challenges for children with rare diseases, including limited time to receive diagnosis and treatment and few clinical trials available. As main caregivers of these children with rare diseases. Because of these challenges, most rare diseases require a referral to a specialist and wait times to see specialists are often long. To make matters more complicated, many rare diseases affect multiple organ systems and are treated by more than one specialist.
Rare disease testing can be challenging. For example, common diseases such as diabetes or hypertension have several baseline tests that can lead to a quick diagnosis. But 8 in 10 rare diseases are caused by faulty genes and are diagnosed through a combination of tests, including genetic tests that are more complex than a routine blood test. And the results still may not be enough for a diagnosis.
Cost and access to resources can also be obstacles on the path to a diagnosis. For example, testing may not be covered by health insurance, which can mean huge out-of-pocket costs for the person with the rare disease. Finding the right specialist may also require traveling or relocating to another location for testing and treatment.
Why are treatments for rare diseases difficult to develop?
Treatments for rare diseases can be difficult to develop. On the one hand, fewer people means a smaller recruiting pool for clinical trials and research that is needed to understand the disease and advance treatment possibilities.
Then there is the cost. The complex composition of rare diseases and the different forms in which they present make it difficult and expensive to design research studies for drug development.
About half of rare diseases do not have a specific research base or group that helps advocate for funding and support. Therefore, these conditions are often overlooked and left behind when it comes to treatment options.
The Importance of Rare Disease Education, Advocacy, and Policy
Because there is often no strong incentive for pharmaceutical companies to fund rare disease research, many of the new research efforts are driven by people living with rare diseases and their communities.
Patient advocacy groups such as Global Genes, the National Organization for Rare Disorders, and the EveryLife Foundation for Rare Diseases play an important role in driving policy that builds support for rare disease research and advancements. «They can eliminate future investment risk by manufacturers and bring research to a point where it becomes attractive to investors and others developing therapies.»
Without advocates for rare diseases, lawmakers likely won’t support policies to help find treatments and cures. But advocacy efforts that help shine a spotlight on rare diseases can make policymakers and lawmakers aware of challenges, including the lack of medical advances and equality in health care. «Legislative advocacy plays an important role in driving innovation and enabling faster diagnosis, better clinical care, innovations in research and science, and driving more impactful therapies,» Boise said.
There is some legislation in the works that offers hope regarding rare diseases: for example, in March, the Search act set out to help fund new efforts to increase the number of women in clinical research trials for rare diseases and blood disorders.
And in May, several bipartisan bills important to the rare disease community advanced in the House, including the Rare Act Ensuring Incentives to Stimulate Rare Disease Research and the Development of Life-Saving Drugs and the Modernization Act of Telealth, which would expand telehealth access to reduce barriers to caring for many patients with rare diseases.
Advocacy groups also help connect people living with rare diseases and their families with resources and support. Umbrella organizations, like those mentioned above, provide up-to-date, curated educational content for newly diagnosed families, as well as connections to smaller patient organizations with content specific to thousands of rare diseases. The sense of community these organizations provide can be vital for people who feel alone or unsure how to move forward after a diagnosis. This is especially important considering that treatment options are scarce and general information on the web is often outdated and scary.
Are there specific barriers for women living with rare diseases?
Similar to what we see with many other health conditions, investigation shows that women are more likely to receive a delay in diagnosis of a rare disease compared to men. This may be due in part to the fact that women are more likely to have their symptoms dismissed or disbelieved by HCPs compared to men.
Additionally, women have historically been left out of clinical trials and research, leading to delays and poorer outcomes for women.
On the caregiving side, Boise said women are often the ones who stay home to support the medical needs of the person with the rare disease. And the support doesn’t stop there. «Women have to be tenacious, move mountains, be creative and become experts on the disease, often knowing more than doctors,» she said.
This educational resource was created with the support of BIO, a member of the Saludos Corporate Advisory Board.
From the articles on your site
Related articles on the web
