February 28, 2025 is a rare day of the disease.
By definition, “rarely” means unusual. Unusual. Words that you usually don’t think about when you think about your health.
But for many people, life with a rare illness is a reality. Rare diseases affect 400 million people worldwide and 30 million people in the United States, which means that about 1 out of 10 Americans live with a rare illness.
You have probably heard of some of the more well -known examples, such as: B. cystic fibrosis and sickle disease. However, there are more than 10,000 rare diseases in which more is recognized every day. Some affect as few as a handful of people around the world.
The path to diagnosis and treatment is often long and complicated for people who live with a rare disease. “[A diagnosis] At the moment, four to six years with thousands of patients who are not diagnosed annually takes, ”said Nicole Boice, founder and Chief mission officer from Global Gene/Rare-X, a non-profit organization that is dedicated to supporting people with rare illnesses.
The complexity of the disease and the lack of well -known medical history can lead to delays in the correct diagnosis, and in many cases the disease is so rare that treatment options may not even exist. In the United States, only 5% of rare diseases have a drug for treatment approved by the FDA.
Today there are more than 10,000 known species of rare diseases. About half of the people with rare diseases are children – and women are often the caregivers who are responsible for navigation by the unknown water. “Over 80% of those we serve in global genes identify themselves as women, mothers and supervisors,” said Boice.
Researchers predict that more people are diagnosed with rare diseases if genetic tests become more accessible and further expand knowledge of rare diseases.
You need to know the following whether you or someone you know live with a rare illness.
What is a rare disease?
A rare disease is determined by the number of people how many people are affected by the disease, and the definition can vary depending on the country. In the United States, a disease is rare if it affects fewer than 200,000 people.
What are the challenges of diagnosis of a rare disease?
On average, a person with a rare illness will see more than 10 specialists and have three misdiagnoses before receiving the correct diagnosis. These delays can take place for several reasons.
A diagnosis can be difficult because the symptoms of the rare disease can look different from person to person. The symptoms can also look like other diseases, people can have several symptoms that have nothing to do with each other or have an unusual presentation of a well -known rare illness. Usually rare diseases are diagnosed by exclusion, which means that frequent diseases are excluded while attempts are made to determine a diagnosis.
In many cases, the delay of the diagnosis occurs because health service providers (HCPS) do not have knowledge or experience with the disease because they do not see it very often or may never have seen or even heard of it. “Clinically, doctors are taught to look for frequent illnesses when patients face challenges. [so] They spend a lot of time looking for everything and testing for everything that is common, ”said Boice.
There are unique challenges children with rare diseases, including only limited time to receive diagnosis and treatment, as well as few available clinical studies. As the primary caregiver of these children with rare diseases. Due to these challenges, most rare diseases require a transfer to a specialist and the waiting times to see that specialists are often long. In order to make the matter more complicated, many rare diseases affect several organ systems and are treated by more than one specialist.
Testing for rare diseases can be a challenge. For example, frequent diseases such as diabetes or high blood pressure have several starting points that can lead to a quick diagnosis. 8 out of 10 rare diseases are caused by incorrect genes and diagnosed by a combination of tests, including genetic tests that are more complex than routine blood test. And the results still cannot be sufficient for a diagnosis.
Costs and access to resources can also be roadblocks on the way to diagnosis. For example, tests may not be covered by health insurance, which can mean enormous costs for the person for the person with rare illness. Finding the right specialist may also require travel or move to another location to get tests 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 mean a smaller recruitment pool for clinical studies and research that are necessary to understand the disease and to promote the treatment options.
Then there is the costs. The complex composition of rare diseases and the different possibilities they present make it difficult and expensive to design research studies on drug development.
About half of rare diseases have no specific basic or research group that is committed to financing and support. These diseases are therefore often overlooked and left behind in terms of treatment options.
The importance of education, advocacy and guidelines for rare diseases
Since there is often no strong incentive for pharmaceutical companies to finance research on rare diseases, many of the new research efforts of people with rare diseases and their communities are powered.
Patient representative groups such as global genes, the national organization for rare disorders and the Everyylife Foundation for rare diseases play an important role in driving policy that creates support for research and progress for rare diseases. “You can endanger future investments from manufacturers and bring research to a point where you become attractive for investors and others who develop therapies.”
Without people to work for rare diseases, legislators will probably not support guidelines to find treatments and remedies. Interest representation efforts that help focus on rare diseases can draw attention to political decision -makers and legislators, including a lack of medical progress and equality in healthcare. “Legislative Advocacy plays an important role in promoting innovation and enabling faster diagnosis, better clinical care, innovations in research and science and more effective therapies,” said Boise.
There are some laws in the works that offer hope for rare diseases: for example, the search law was proposed in March to finance new efforts to increase the number of women in clinical research studies for rare diseases and blood disorders.
And in May, several cross -party laws that are important for the community of rare diseases have prescribed in the house, including the rare law, to ensure incentives for many rare patients of the disease.
Interest groups also help to combine people with rare diseases and their families with resources and support. As mentioned above, umbrella organizations offer updated and curated educational content for newly diagnosed families as well as connections to smaller reputable patient organizations with specific content for thousands of rare diseases. The sense of community that these organizations offer can be for people who feel alone or are not sure how to go forward after a diagnosis. This is particularly important when you consider that the treatment options are often outdated and scary at short notice and general information on the web.
Are there barriers that are specific to women with rare diseases?
Similar to many other health conditions, research shows that women are more likely to receive a diagnosis delay for a rare disease compared to men. This can be partially due to the fact that women with more often dismiss their symptoms or are not accepted by HCPS compared to men.
Historically, women from clinical studies and research were excluded, which led to delays and poorer results for women.
On the nursing side, Boise said that women usually stay at home to support the medical needs of the person with rare illness. And the support doesn’t stop here. “Women have to be persistent, move mountains, be creative and become experts in the disease, often know more than the doctors,” she said.
This educational resource was created with the support of BIO, a healthy member of the Corporate Advisory Council.
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