February 28, 2025 is RARE DISEASE DAY.
By definition, “rare” means uncommon. Unusual. Words that you normally think when you are 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, which means that approximately 1 in 10 Americans live with a rare disease.
I have probably heard of some of the best known examples, such as Cystic fibrosis and DRepanocytic anemia. But there are more than 10,000 rare diseases with more recognized every day. Some affect just a handful of people around the world.
The way to a 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 who remain not diagnosed, ”he said NICOLE BOICEFounder and Mission Director of Global/Rare-X Genes, a non-profit organization dedicated to helping people with rare diseases.
The complexity of the condition and the lack of known history can cause delays to obtain the correct diagnosis and, in many cases, the disease is so rare that the treatment options do not even exist. In the United States, only 5% of rare diseases have a medication approved by FDA for treatment.
Today, there are more than 10,000 known types of rare diseases. Around half of people with rare diseases are children, and women are often the caregivers in charge of navigating through unknown waters. “More than 80% of those we serve in global genes are identified as women, mothers and caregivers,” Baice said.
Researchers predict that more people will be diagnosed with rare conditions as genetic tests become more accessible and knowledge of rare diseases continues to expand.
This is 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 according to the country. In the United States, a condition is considered rare if it affects less 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 will have three erroneous diagnoses before obtaining the correct diagnosis. These delays can occur for several reasons.
A diagnosis can be complicated because the symptoms of rare disease can be different from person to person. Symptoms can also resemble other conditions, people can have several symptoms that seem not related or can have an unusual presentation of a rare known disease. In general, rare diseases are diagnosed by exclusion, which means that more common diseases are discarded when trying to determine a diagnosis.
In many cases, the delay in the diagnosis occurs because medical care suppliers (HCP) have no knowledge or experience with the disease because they do not see it very often or possibly never seen or even heard of it. “Clinically, doctors are taught to look for common diseases when patients face challenges, [so] They spend a lot of time looking for and testing everything that is common, “Baice said.
There are unique challenges for children with rare diseases, including limited time to receive diagnosis and treatment and few available clinical trials. As main caregivers of these children with rare diseases. Due to these challenges, most rare diseases require a reference to a specialist and waiting times to see that specialists are often long. To do the most complicated things, many rare diseases affect multiple organ systems and are treated by more than one specialist.
Rare disease tests can be challenging. For example, common diseases such as diabetes or hypertension have several reference tests that can lead to a rapid diagnosis. But 8 out of 10 rare diseases are caused by defective genes and is diagnosed through a combination of tests, including genetic tests that are more complex than a routine blood analysis. And the results may not be enough for a diagnosis.
Cost and access to resources can also be obstacles on the way to a diagnosis. For example, tests cannot be covered by health insurance, which can mean huge pocket costs for the person with rare disease. Finding the right specialist may also require traveling or relocating to another place for tests and treatment.
Why are they difficult to develop treatments for rare diseases?
Treatments for rare diseases can be difficult to develop. On the one hand, less people means a smaller recruitment group for clinical and research tests that are needed to understand the disease and advance with the possibilities of treatment.
Then there is the cost. The complex composition of rare diseases and the different ways in which they present make it difficult and expensive to design research studies for medication development.
Around half of rare diseases do not have a specific base or research group that helps advocate for financing and support. Therefore, these conditions are often overlooked and left behind with respect to treatment options.
The importance of education, defense and policies for rare diseases
Because there often there is no strong incentive for pharmaceutical companies to finance research on rare diseases, many of the new research efforts are driven by people living with rare diseases and their communities.
Patient defense 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 creates support for research and advances for rare diseases. “They can eliminate the future investment of manufacturers and take research to a point where it becomes attractive to investors and others that develop therapies.”
Without the people who advocate rare diseases, legislators will probably not support policies to help find treatments and priests. But defense efforts that help stand out in rare diseases can make political responsible and legislators aware of the challenges, including the lack of medical advances and equality in medical care. “The legislative defense plays an important role in the impulse of innovation and the enabling of faster diagnosis, better clinical attention, innovations in research and science and promoting more shocking therapies,” Boise said.
There is some legislation in the works that offer hope regarding rare diseases: for example, in March, the Search act It proposed to help finance new efforts to increase the number of women in clinical research tests for rare diseases and blood disorders.
And in May, several important bipartisan bills for the community of rare diseases advanced in the Chamber, including the rare law that guarantees incentives to stimulate rare diseases and the development of medicines that save life and the law of modernization Telealth, which would extend Telesalud access to reduce barriers to take care of many patients with rare diseases.
Defense groups also help connect people who live with rare diseases and their families with resources and support. Umbrella organizations, such as those mentioned above, provide updated and selected educational content for newly diagnosed families, as well as connections with smaller patient organizations with specific content for thousands of rare diseases. The sense of community that these organizations provide can be vital for people who feel alone or are not sure how to advance after a diagnosis. This is especially important considering that the treatment options are scarce and the general information on the web is often outdated and terrifying.
Are there specific barriers for women living with rare diseases?
Similar to what we see with many other health conditions, investigation It shows that women are more likely to receive a delay in the diagnosis of a rare disease compared to men. This may be due in part to the fact that women are more likely that their symptoms will dismiss or do not create for HCP compared to men.
In addition, historically, women have been left out of clinical trials and research, which has led to the poorest delays and results for women.
On the care side, Boise said that women are usually those who stay at home to support the person’s medical needs with rare disease. And the support does not stop there. “Women have to be tenacious, move mountains, be creative and become experts in the disease, often knowing more than doctors,” he said.
This educational resource was created with the support of Bio, a member of the Corporate Advisory Council of Greetings.
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