Navigating a Rare Disease

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For a long time, Sabrina Riddle feared she’d never really know what was going on in her head.

In 2011, she went to her healthcare provider (HCP) with what she thought was an ear infection. She was prescribed antibiotics, but they didn’t help. Nothing did. For months, Riddle walked around with intense pressure in her right ear, and everything sounded muffled — like she was underwater.

When Riddle finally had an imaging test, the scan showed a large mass in her ear. The HCP said it was cancer — even though the pathology report said it wasn’t. But her medical team didn’t know what else it could be.

Riddle had radiation and multiple surgeries to treat and remove the cancer-like tumors. Unfortunately, it wasn’t long before the tumors came back. She went to numerous HCPs for advice, but they all said cancer treatment was the best way to go.

She spent years exhausted, terrified and frustrated. She started to lose hope that anyone would be able to treat her mysterious condition.

After three years of testing, surgeries and failed treatments, Riddle finally learned why she wasn’t responding to treatment. She didn’t have cancer — she had an extremely rare inflammatory disease called immunoglobulin G4-related disease (IgG4-RD).

Difficulty diagnosing rare diseases

About 1 in 10 people in the U.S. are living with a rare disease. Like Riddle, most people with rare diseases wait years for a proper diagnosis. On average, it takes four to five years to receive a diagnosis for a rare disease. And many people are misdiagnosed along the way when their symptoms are similar to other health conditions. Underrepresented and marginalized patient groups often experience greater instances of misdiagnosis and longer disease journeys.

“Lack of awareness of rare diseases and their diagnosis and treatment guidelines contribute to this issue,” said Charlene Son Rigby, chief executive officer of Global Genes, a nonprofit organization dedicated to helping people with rare diseases.

Barriers with testing for rare diseases also play a significant role in the delay of diagnosis. “Patients have difficulty getting access to appropriate diagnostic testing, as doctors are not aware of appropriate testing availability, or patients are unable to afford tests due to coverage or cost hurdles,” Rigby said.

To make diagnosis even more complicated, there are cases where the disease is so rare that information and treatment options simply don’t exist. Rigby noted that women and people assigned female at birth (AFAB) can have an especially hard time getting a diagnosis. “For women with a rare disease, getting a diagnosis can include additional hurdles, as gender bias can lead to concerns being dismissed or misattributed symptoms,” she said.

Read: Rare Diseases 101 >>

Barriers to access to treatment for rare diseases

Sabrina Riddle, 2023

People with rare diseases face many different challenges when it comes to access to treatment. These challenges can include:

Out-of-pocket costsLocation of specialists/treatment centersLack of specialistsLack of health insurance coverageLack of availability of medications Lack of approved treatments

In the U.S., only 5% of rare diseases have drugs approved by the Food and Drug Administration (FDA) for treatment. And the route to FDA approval can be slow.

For example, for a treatment to be approved by the FDA it must follow a rigorous clinical trial process and demonstrate results that prove the treatment is effective.

Unfortunately, clinical trials for rare diseases can be difficult to put together because the disease affects a smaller pool of people, and funding for research may not be available.

Medicines for rare diseases also have lower success rates compared to mass-produced drugs. “Generally, for every therapy that makes it to market — approved and available to patients — an average of nine others fail,” Rigby said.

Read: Having a Rare Disease Called PBC Taught Me to Speak Up >>

Patient advocacy and rare disease

From diagnosis to treatment, it’s important to have reliable, fact-based information if you have a rare disease. Like many health conditions, rare diseases can present in different ways, and symptoms can vary from person to person.

Resources such as the National Organization for Rare Disorders, Genetic and Rare Disease Information Center and Global Genes help connect people with available research and data, experts, and patient advocacy groups.

Finding a patient advocacy group is particularly important for people with rare diseases, as patient advocates are often the point person for different types of support resources that can include:

Financial help with insuranceFinancial help with travel for careEmotional support Caregiver resources and aidAssistance with testing

Opportunities for innovation in treatment for rare disease

“Rare disease therapy development demands a different way of thinking, from the way we conduct clinical trials to how we incentivize and fast-track therapies,” Rigby said. “Legislative advocacy plays an important role in driving innovation and enabling faster diagnosis, better clinical care, innovations in research and science, and more impactful therapies.”

Last year, the FDA launched the Rare Disease Innovation Hub as a point of collaboration for the Center for Biologics Evaluation and Research (CBER) and Center for Drug Evaluation and Research (CDER) to improve outcomes for people with rare diseases. Part of the mission is to address challenges like access and delays in diagnosis and grow participation in clinical trials.

Advancements in technology are also helping move research, access and treatment options forward. “Today, technology exists to help accelerate a diagnosis and shrink the time to answers for patients and their families leveraging whole exome/whole genome sequencing. There is a push to add this technology to support newborn screening, but this has yet to be accepted as standard protocol,” Rigby said.

Other advanced technologies, such as artificial intelligence (AI), have been shown to assist data collection, improve rates of diagnosis and reduce cost. Recently, the Advanced Research Projects for Health agency invested $48 million in AI-driven platforms to repurpose existing drugs to address rare diseases that don’t have treatment options.

Riddle said advancements in innovation can’t come soon enough for people like her who are living with a rare disease. “I feel very excited for the research and the trials that are being done. But I’m looking forward to the day when I can say ‘cure,’ instead of ‘remission.’”