Rare Diseases And Healthcare Disparities

A population’s health is determined by its social and economic conditions, as well as the medical care it receives. Health disparities are discrepancies that socially disadvantaged populations encounter in the burden of rare diseases to reach optimal health.

Continue reading to learn how disparities in the healthcare system dealing with rare diseases exist and the ways they can be solved. 


What is a rare disease 


A rare disease is that which affects only a minority of people residing in a country. Few people in the general population are impacted by the extreme symptoms of these diseases. The uncommon and less frequent pattern of occurrence of such diseases raises serious concerns as to why such illnesses are a serious hazard to a small fraction of the population. 

 

For example, in this case, the Orphan Drug Act (1983) of the United States defines a rare disease as one that affects fewer than 200,000 people in the total population, meanwhile the analogous legislation in the European Union (2000) states an ailment as rare when it affects one in every 2000 people. This demonstrates how the rarity of a disease is determined solely by regional laws based on the country’s current population. 

 

What Causes Rare Diseases


The National Institutes of Health (NIH) estimates that there are 7000 uncommon diseases documented to be in existence worldwide. The main cause of many rare illnesses is still unknown. But in a sizable portion of cases, the problem may be traced back to changes (genetic variants) in a single gene. These conditions are categorized as uncommon genetic diseases. Since many of these gene changes are inheritable, it is understandable why some rare diseases affect particular families or racial groupings.

 

Contrary to popular assumption, rare diseases are never exclusively brought on by genetic anomalies. In fact, 28% of rare diseases are caused by numerous environmental factors, including exposure to a certain class of chemical reagents or even nutrition, that have a big impact on how a particular sickness develops.  

 

Impacts on the general population 

 

The general public impacted by these disorders encounters comparable challenges in their search for an accurate diagnosis, pertinent information, and appropriate referrals to skilled physicians. The common people who suffer from rare diseases are also more susceptible to psychological, social, economic, and cultural harm. Many people may not receive a diagnosis, and their ailment goes untreated, as a result of inadequate scientific and medical knowledge. 

Although there are programs now being introduced such as NORD which expertises in dealing with most rare diseases, it still doesn’t provide assistance to the general public. These are usually the people who experience issues getting the right support the most. 

 

Disparity in the impact on black and brown communities 

Asian and Hispanic people are more likely than the whites to suffer from uncommon diseases, according to studies. These people often deal with a variety of issues, such as high rates of diabetes, obesity, and hypertension, that put them at risk for getting these illnesses.They may find it challenging to prevent or treat these complications because of difficulties with access to healthcare and language issues, as well as education being a huge impediment. 

 

A certain research suggests that only one in three Hispanic women are aware of the danger that chronic diseases bring to American women. These women are almost three times as likely to be without health insurance and to have a less established primary care provider than non-Hispanic white women. Due to the fact, they usually put their families above their own needs due to cultural norms, they are less likely to seek medical attention for themselves than for their family. People of Hispanic/Latino descent have always faced prejudice and injury from institutions designed to safeguard and advance their health and wellbeing. 

 

Additionally, regardless of income or education, research indicates that Black and Hispanic women are more likely to experience stress and worry over matters of racism, money, and the general requirements of their households, which might aggravate their vulnerability to chronic health diseases. Before the Affordable Care Act (ACA), about 1 in 3 Hispanic Americans were even uninsured. When these patients reach the hospitals for medical aid, they do not receive requests from their doctors to take part in clinical trials because of conclusions drawn by professionals relating to patient compliance, their race and ethnicity, financial strength, and the existence of comorbid conditions that impede their research. 

 

Underlying effects 

 

Medical competence, information, care options, and research are all limited as a result of the low occurrence of each disease. Patients with uncommon diseases are the orphans of the health systems, frequently denied diagnosis, care, and the advantages of research, regardless of their large total numbers.

Generally widespread symptoms can mask rare diseases, causing misdiagnosis and delaying treatment. For instance, childhood trauma exposure and untreated mental health issues are the main contributors to the disparities in this juvenile justice population. Rare diseases have an impact on the patient along with their family, friends, caregivers, and society at large.

Solutions 

It is obvious that efforts now need to be combined on a global, clinical, and computational level in order to gather, consolidate, and curate the most reliable and current knowledge on rare diseases distributed throughout all states and work toward equity. 

For instance, by adding newly researched illnesses to a database each year, demonstrating the importance of routinely harmonizing such 

knowledge sources can offer a solution.

 

To lay the groundwork for more accurate diagnosis and treatment of individuals with rare diseases as well as the development of novel therapeutic strategies, a universally agreed-upon set of criteria that allows rare diseases to be properly described should be made possible. 

 

Access to primary-care and culturally relevant programmes is also necessary in order to significantly reduce the risk of rare diseases – for example Lupus, an autoimmune disease – in marginalized populations. Hispanic-American and Asian people can also reduce their risks of contracting rare diseases and learn to use healthy prevention techniques by working with a doctor who is aware of their specific and cultural needs in healthcare, together with an orator to bridge language gaps. Advancing health equity by providing more sources, partnering with organizations already working to achieve equality and raising awareness among health providers can become potential solutions for all sorts of health disparities.

 

Conclusion 

 

Health administrators deal with a variety of actual cases of health inequities every day, which have lately been made worse by the intervention of rare diseases. Increasing their knowledge and expertise can assist them in identifying long-term solutions that will help underserved populations, and lower the impacts of health disparities.

 

Citations 

 

https://rarediseases.info.nih.gov/about

https://rarediseases.org/wp-content/uploads/2019/01/RDD-FAQ-2019.pdf

https://www.eurordis.org/information-support/what-is-a-rare-disease/

https://rarediseases.org/for-patients-and-families/help-access-medications/patient-assistance-programs-2/

https://www.scripps.org/news_items/5957-hispanic-women-and-heart-disease-what-to-look-for

https://nationalpress.org/topic/diversity-elusive-in-rare-disease-research/

https://www.maine.gov/dhhs/mecdc/population-health/mch/cshn/rare-disease.html

 

Patient Empowerment Resource


Learn more about the impacts of rare disease on patient-provider communication from patient advocate Juana Mata, LCSW, co-founder of Looms for Lupus as she shares her journey to getting a Lupus diagnosis, having to navigate multiple communication barriers with healthcare teams that made it difficult for her to get timely treatment.

Leave a comment

Your email address will not be published.

This site uses Akismet to reduce spam. Learn how your comment data is processed.