Understanding Rare Diseases and the Challenges for Patients

Understanding Rare Diseases and Disorders

Rare diseases, also known as orphan diseases, are health conditions that affect a relatively small percentage of the population. In the United States, a rare disease is defined as one that affects fewer than 200,000 people. Over 7,000 rare diseases have been identified to date and around 30 million Americans are living with rare diseases.

Getting an accurate diagnosis can be challenging with rare diseases, due to the lack of scientific knowledge and medical expertise. Symptoms may also vary from patient to patient. Rare disorders are frequently chronic, progressive and severely debilitating or even life-threatening.

Categories of Rare Diseases

Some broad categories of rare diseases include:

• Genetic disorders like cystic fibrosis, Huntington's disease, sickle cell anemia
• Infectious diseases such as dengue, Zika
• Cancers - Certain types like medullary thyroid cancer, Wilms tumor (kidney)
• Autoimmune disorders including multiple sclerosis, rheumatoid arthritis, Crohn’s disease
• Neurologic diseases such as Tourette syndrome, Lou Gehrig's disease
• Metabolic disorders like Gaucher disease, Pompe disease
• Undiagnosed conditions where the cause is still unknown

Challenges for Patients with Rare Diseases

Patients with rare diseases face many difficulties including:

• Delay in getting properly diagnosed due to lack of awareness
• Misdiagnosis due to overlapping symptoms with common diseases
• Limited treatment options as few drugs are approved to treat rare diseases
• High treatment costs - orphan drugs are more expensive
• Psychological impact of having a little-known, incurable disease
• Difficulty finding doctors with expertise in the rare condition

Support and Advocacy for Rare Disease Patients

Several organizations strive to provide support for the rare disease community and advocate on their behalf, such as:

• National Organization for Rare Disorders (NORD)
• Global Genes - Allies in Rare Disease
• Coalition of Patient Advocates for Skin Disease Research
• Amyloidosis Support Groups
• MLD Foundation - Metachromatic Leukodystrophy

They help fund research, develop treatments, provide education, assistance, and resources for patients and families affected by rare diseases.

Celebrities Living with Rare Diseases

The following celebrities have raised awareness and become advocates for rare conditions that they personally live with.

Avril Lavigne - Lyme Disease

Canadian singer Avril Lavigne has Lyme disease, a bacterial infection transmitted through ticks. Symptoms may include skin rash, fever, joint pain and neurological issues. She experienced severe fatigue, insomnia and aches before being diagnosed in 2014. Lavigne stated, “I had no idea a bug bite could do this.” She supports Lyme disease charities to fund research for better diagnostic tests.

Selena Gomez - Lupus

Pop singer Selena Gomez announced she was diagnosed with the autoimmune disease lupus in 2015. Lupus causes inflammation and damage to tissues and organs including the joints, skin, kidneys, blood cells, brain and heart. She underwent chemotherapy and had to cancel tours to treat lupus complications like anxiety, depression and panic attacks. Gomez says she wants to use her platform to raise lupus awareness.

Venus Williams - Sjögren's Syndrome

Tennis champion Venus Williams was diagnosed with Sjögren’s syndrome in 2011, an autoimmune disorder affecting moisture-producing glands. Symptoms include dry eyes, dry mouth, joint pain and fatigue. Williams had to withdraw from the 2011 U.S. Open due to a Sjögren’s flareup. She follows a vegan, gluten-free diet and says she has learned to monitor and manage the disease.

Kim Kardashian - Psoriasis

Reality TV star Kim Kardashian was diagnosed with psoriasis in 2011, a chronic autoimmune condition causing itchy, scaly skin patches. She manages it with topical creams, light therapy and certain diets that help control flareups. Kardashian says she earlier thought it was just a rash that would go away. She wants to break the stigma around skin conditions like psoriasis.

Jamie-Lynn Sigler - Multiple Sclerosis

Actress Jamie-Lynn Sigler revealed she was diagnosed with multiple sclerosis (MS) at 20 years old. MS affects the central nervous system causing numbness, vision loss, pain and mobility issues. She was temporarily wheelchair-bound while pregnant due to an MS flareup. Sigler takes medication to manage symptoms and adjusts her schedule to accommodate the unpredictability of the disease.

Michael J Fox - Parkinson’s Disease

Back to the Future actor Michael J Fox was diagnosed with early-onset Parkinson’s disease at 29 years old. Parkinson’s involves the malfunction and eventual death of neurons controlling movement. Fox eventually had to semi-retire from acting due to declining health from Parkinson’s progression. He established a foundation to advance Parkinson’s research and raise awareness.

Nick Cannon - Lupus Nephritis

Actor and TV host Nick Cannon was hospitalized in 2012 for kidney failure caused by lupus nephritis, a complication of lupus affecting the kidneys. Lupus nephritis causes weight gain, swelling, hypertension and can lead to kidney scarring. Cannon must maintain a strict health routine involving a vegan diet and 12-hour dialysis sessions. He says humor helps him cope with living with lupus.

Jack Osbourne - Multiple Sclerosis

Former reality TV star Jack Osbourne, son of rocker Ozzy Osbourne, was diagnosed with MS at 26 years old after losing vision in one eye. He experienced paralysis on the left side of his body for weeks after his first MS flareup. Osbourne admits he fell into a depression post-diagnosis. He later launched "You Don't Know Jack About MS" to share his journey and connect with others living with MS.

Raising Awareness for Rare Diseases

The celebrity spotlight on these and other rare conditions helps spread awareness about illnesses not widely known or understood by the general public. Some ways we can boost rare disease advocacy and education include:

Highlighting Famous Figures with Rare Diseases

Celebrities like the ones mentioned draw attention to obscure conditions by publicly sharing their personal health battles. Other famous people with rare diseases include Halle Berry (diabetes), Annette Funicello (multiple sclerosis), Rory Feek (Joey Feek) (cervical dystonia), and Mary Tyler Moore (diabetes). Their stories humanize the impact of these illnesses.

Promoting Rare Disease Events

Events like Rare Disease Day (February 28) and Congenital Heart Defect Awareness Week in February garner support and increase knowledge on rare conditions. Nonprofits organize local activities to observe such health awareness days.

Using Social Media to Share Facts

Social media campaigns are an effective and low-cost way to spread facts, news and personal accounts about diseases not well-known to the public. Platforms like Facebook, Instagram, Twitter and YouTube make it easy to widely disseminate disease information.

Advocating for Research Funding

Lobbying policymakers and partnering with industry helps direct more research dollars to study rare diseases and develop orphan drugs. Nonprofit groups like NORD advocate on behalf of patients to advance rare disease policies and legislation.

Rare disorders collectively affect a significant portion of the population. Raising awareness and promoting research helps patients get accurate diagnosis and access to newer, better treatment options.

Disclaimer: This article is for informational purposes only and does not constitute medical advice. Always consult with a healthcare professional before starting any new treatment regimen.