Navigating By A Rare Disease

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

In 2011 she went to her care provider (HCP) with what she thought was an ear infection. She was prescribed antibiotics, but they didn’t help. Nothing did it. For months, Riddle walked around with intense pressure in her right ear and everything sounded muted – as if she were under water.

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

Riddle had radiation and several operations to treat and remove the cancer -like tumors. Unfortunately it wasn’t long before the tumors returned. She went to countless HCPs for advice, but they all said that the treatment of cancer was the best way to go.

She spent years exhausted, terrified and frustrated. She started to lose hope that everyone could treat her mysterious state.

After three years of testing, operations and failed treatments, Riddle finally learned why she did not respond to the treatment. She had no cancer – she had an extremely rare inflammatory disease called Immunoglobulin G4-related disease (IGG4-RD).

Difficulties in diagnosing rare diseases

About 1 in 10 people in the US live with a rare disease. Just like Riddle, most people with rare diseases wait for years for a good diagnosis. On average it takes four to five years to get a diagnosis for a rare disease. And many people are incorrectly diagnosed along the way when their symptoms are comparable to other health problems. Under -represented and marginalized patient groups often experience larger cases of incorrect diagnosis and longer disease requests.

“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 non -profit organization that focuses on helping people with rare diseases.

Barriers with testing on rare diseases also play an important role in the delay in the diagnosis. “Patients have difficulty gaining access to appropriate diagnostic tests, because doctors are not aware of the correct availability of tests or patients are unable to pay tests because of coverage or cost obstacles,” Rigby said.

To make the diagnosis even more complicated, there are cases where the disease is so rare that information and treatment options simply do not exist. Rigby noted that women and people who assigned women at birth (AFAB) can have a particularly difficult one to get a diagnosis. “For women with a rare disease, getting a diagnosis can include additional obstacles, because gender predisposition can lead to worries being rejected or incorrectly attributed symptoms,” she said.

Read: rare diseases 101 >>

Barriers for 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 be:

Out-of-pocket costs
Location of specialists/treatment centers
Lack of specialists
Lack of health insurance
Lack of availability of medicines
Lack of approved treatments

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

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

Unfortunately, clinical tests for rare diseases are difficult to assemble because the disease affects a smaller pole of people and financing for research may not be available.

Drugs for rare diseases also have lower success rates compared to mass-produced medicines. “In general, for every therapy that fails the market – approved and available for patients – on average nine others,” said Rigby.

Read: having a rare disease called PBC taught me to speak >>

Patient advocacy and rare disease

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

Sources such as the National Organization for Rare Disorders” Genetic and rare information -Information center And Global genes Help people connect with available research and data, experts and interest groups of the patient.

Finding a interest group for patients is especially important for people with rare diseases, because patient proponents are often the point person for different types of support sources that can be:

Financial assistance with the insurance
Financial help with travel for care
Emotional support
Caretaker sources and help
Help with testing

Opportunities for innovation in treatment for rare diseases

“The development of rare disease therapy requires a different way of thinking, from the way we perform clinical tests to how we stimulate and accelerate therapies,” said Rigby. “Legal advocacy plays an important role in stimulating innovation and making 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 cooperation for the Center for Biologics Evaluation and Research (CBER) and Center for Drug Evaluation and Research (Cder) to improve the results for people with rare diseases. Part of the mission is to take on challenges, such as access and delays in the diagnosis and participation in clinical studies.

Progress in technology also helps to move research, access and treatment options. “Nowadays there is technology to accelerate a diagnosis and to reduce time to answers for patients and their families used whole exome/whole genome seal. There is an urge to add this technology to support screening of newborn, but this must still be accepted as a standard protocol, “said Rigby.

From other advanced technologies, such as artificial intelligence (AI), it has been shown to help data collection, improve diagnostic rates and lower costs. Recently, the Advanced Research Projects for Health Agency $ 48 million invested in AI-driven platforms to re-use existing medicines to tackle rare diseases that do not have treatment options.

Riddle said that progress in innovation cannot come fast enough for people like those who live with a rare disease. “I am very enthusiastic about the research and the tests that are being done. But I look forward to the day on which I can say ‘healed’ instead of ‘remission’.”