Rare Diseases: Unveiling the Hidden Struggles and Building Community Strength

In the US, a rare disease is defined as a “disease or condition that impacts fewer than 200,000 people.” Ironically, nearly 1 in 10 people have a rare disease.1 Although a small number of people are affected by rare diseases, it doesn’t change the fact it alters their quality of life.

Rare diseases are hard to spot, and this makes it difficult for healthcare professionals to identify them quickly or correctly. Often times, healthcare professionals don’t know much about these uncommon conditions, and this is especially a problem for Black people. Additionally, there may not be many treatment options for rare diseases available.

The importance of raising awareness and research about these diseases cannot be overstated, as increased understanding drives advancements in diagnosis, treatment, and patient care.

Understanding Genetics and Rare Diseases

When we inherit genes from our parents, sometimes these genes can have mutations. In the context of rare diseases, mutations disrupt normal cellular processes, leading to a wide range of health issues.

Who someone inherits a rare disease from depends on the specific genetic mutations.2 For example, sickle cell anemia requires both parents to have a genetic mutation in order for the child to inherit the disease.

Family planning is a good time to discuss whether genetic testing is right for you and your partner. At 10 weeks, pregnant women may also choose to undergo prenatal genetic screening to help identify any genetic variations.3 This test only requires a small blood sample; results are typically available in one week.

Rare diseases affecting Black people

Rare diseases affect people of all ethnic backgrounds, including Black people. It’s important to recognize that certain rare diseases have a higher prevalence or a distinct impact within specific racial or ethnic groups.

Sickle Cell Anemia

Sickle cell (SC) anemia is a prime example of a rare disease that affects Black people at higher rates. For Black babies, 73 in every 1,000 have sickle cell anemia compared to 3 in every 1,000 white babies. Nearly 7% of Black babies are born with the SC trait, but this does not mean they have sickle cell disease.4

This recessive blood disorder causes red blood cells to have a crescent moon shape instead of being round. This leads to various health complications, such as pain crises, anemia, and organ damage. Recent data indicates that complications linked to SC reduce life expectancy by 20 years.5 Interestingly, women with SC tend to live longer than men.

It’s important for individuals with SC to work closely with their healthcare team to develop a personalized treatment plan that addresses their specific needs and symptoms. The severity of the condition and individual factors influence treatment options. These options may include:

  • Pain management
  • Hydroxyurea (hye drox” ee ure ee’ a)
  • Blood transfusions
  • Bone marrow transplant
  • Gene therapy
  • Pulmonary hypertension treatment
  • Staying hydrated
  • Managing stress


Lupus, also known as systemic lupus erythematosus (SLE), is a rare autoimmune disease. It’s estimated nearly 73 people out of 100,000 in the US have lupus.6 However, women, especially, black women, are diagnosed more often. It’s estimated 1 in every 537 Black women will be diagnosed with lupus.7

Lupus causes the immune system to attack healthy tissues and organs mistakenly.8 This leads to a wide range of symptoms, including inflammation, pain, and damage to various body parts, such as the skin, joints, kidneys, heart, lungs, and brain. 

The cause of lupus is not fully understood, but it’s believed to involve a combination of genetic, environmental, and hormonal factors. 

Treatment typically focuses on managing symptoms and preventing flare-ups using medications and lifestyle adjustments.8

Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy (HC) is a rare heart condition that causes thickening of the left heart’s main pumping chamber. This thickening, known as hypertrophy, blocks blood flow from the heart, making it hard for the heart to pump blood effectively.

HC requires only one parent with a gene mutation to pass on this disease. Genetic mutations in the genes that make up the structure of heart muscle proteins are more common in Black people compared to white people.9 Other causes of HC include high blood pressure and aging.10

Symptoms of HC include shortness of breath, chest pain, fatigue, fainting or dizziness during exercise, and irregular heartbeats. In some cases, HC leads to more severe complications like:

  • Heart failure 
  • Heart attacks
  • Blood clots
  • Stroke


Treatment options for HC may include:

  • Medications
  • Surgery
  • Implantable devices
  • Lifestyle modifications
  • Regular follow-up

Addressing Disparities and Challenges

Research is a cornerstone in addressing the challenges posed by rare diseases. It often fails to adequately represent Black individuals, limiting the understanding of their unique health needs and experiences. This gap hinders the development of targeted treatments and interventions, resulting in disparities in healthcare outcomes.11

Lack of participation in research also ties back to lower socioeconomic status. Someone’s status may affect their ability to obtain quality healthcare, including access to healthcare professionals who refer patients to clinical trials.12 

Recent US Census data illustrates Black people have the highest poverty rate at 19.5%.13 In most cases, the higher the poverty rate, the lower the socioeconomic status. Therefore, Black people, especially those with rare diseases, are the most impacted by this barrier.

Advocacy groups and support organizations work to amplify voices, raise awareness, and influence policy changes that remove these barriers. By connecting with and supporting these organizations, you can contribute to a collective effort in tackling healthcare disparities and fostering positive change for the Black community.

The Bottom Line

The impact of rare diseases on individuals, especially within the Black community, cannot be underestimated. These conditions pose unique challenges, from delayed diagnoses to limited treatment options. 

It’s important that we raise awareness, promote research inclusivity, and support advocacy organizations dedicated to addressing these disparities. Join us in this vital mission to make a difference today.

Conversation starters:

  • Have you or anyone you know ever been affected by a rare disease? How did that experience influence your perspective on healthcare and medical research?
  • How do you think the lack of visibility and understanding of rare diseases might affect individuals’ mental and emotional well-being?
  • If you were to participate in raising awareness or supporting advocacy efforts, which part of the article did you like the most and made you want to take action?


  1. Genetic and Rare Diseases Information Center. “What Is a Rare Disease?”
  2. ‌MedlinePlus. If a genetic disorder runs in my family, what are the chances that my children will have the condition?: MedlinePlus Genetics. Published May 12, 2021.
  3. ‌Cleveland Clinic. Pregnancy Genetic Testing: What It Is, Options, Benefits & Risks. Cleveland Clinic. Published September 9, 2022.
  4. ‌Centers for Disease Control and Prevention. Data & Statistics on Sickle Cell Disease. Centers for Disease Control and Prevention. Published August 31, 2016.
  5. ‌Sickle Cell Disease Cuts 20 Years From Life Expectancy, Study Finds. AJMC. Published March 24, 2023.
  6. Izmirly PM. Study pins down number of Americans with most common form of lupus. NYU Langone News. January 21, 2021. Accessed September 1, 2023.,the%20dominant%20form%20of%20lupus.
  7. ‌Lupus facts and statistics | Lupus Foundation of America.
  8. ‌Fava A, Petri M. Systemic lupus erythematosus: Diagnosis and clinical management. J Autoimmun. 2019;96:1-13. doi:10.1016/j.jaut.2018.11.001
  9. Manrai AK, Funke BH, Rehm HL, et al. Genetic Misdiagnoses and the Potential for Health Disparities. N Engl J Med. 2016;375(7):655-665. doi:10.1056/NEJMsa1507092
  10. Hypertrophic Cardiomyopathy: Causes. Symptoms & Treatments. Cleveland Clinic.
  11. ‌Ma MA, Gutiérrez DE, Frausto JM, Al-Delaimy WK. Minority Representation in Clinical Trials in the United States: Trends Over the Past 25 Years. Mayo Clin Proc. 2021;96(1):264-266. doi:10.1016/j.mayocp.2020.10.027
  12. McMaughan DJ, Oloruntoba O, Smith ML. Socioeconomic Status and Access to Healthcare: Interrelated Drivers for Healthy Aging. Front Public Health. 2020;8:231. Published 2020 Jun 18. doi:10.3389/fpubh.2020.00231
  13. Shrider E, Kollar M, Chen F, Semega J. Income and Poverty in the United States: 2020 Current Population Reports.; 2021.


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