Sabrina Riddle feared for a long time that she would never really know what was going on in her head.
In 2011 she went to her health service provider (HCP) with ear infection. It was prescribed antibiotics, but they didn’t help. Nothing did. For months, Riddle had been around in the right ear with intensive pressure and everything sounded – as if it were under water.
When Riddle finally had an imaging test, the scan showed a large mass in the ear. The HCP said it was cancer – although the pathological report said this was not the case. But her medical team didn’t know what else it could be.
Riddle had radiation and several operations to treat and remove the cancer -like tumors. Unfortunately, it didn’t take long for the tumors to come back. She went to numerous HCPs to get advice, but everyone said that cancer treatment was the best way.
She spent years exhausted, frightened and frustrated. She started losing hope that everyone would be able to treat their mysterious condition.
After three years of testing, operations and failed treatments, Riddle finally learned why she did not respond to the treatment. She had no cancer-like an extremely rare inflammatory disease called immunoglobulin G4-related disease (IGG4-RD).
Difficulty level of rare diseases
About 1 out of 10 people in the USA live with a rare disease. Like Riddle, most people with rare diseases await years for a proper diagnosis. On average, it takes four to five years to get a diagnosis for a rare illness. And many people are diagnosed incorrectly on the way when their symptoms are similar to other health states. Sub -represented and marginalized patient groups often have major cases of misdiagnosis and longer disease trips.
“The lack of awareness of rare diseases and their diagnosis and treatment guidelines contribute to this topic,” said Charlene Son Rigby, Chief Executive Officer of Global Gene, a non-profit organization that is devoted to helping people with rare diseases.
Barriers with tests on rare diseases also play a significant role in the delay in diagnosis. “Patients have difficulty gaining access to suitable diagnostic tests, since doctors are not known to the appropriate availability of tests or the patients cannot afford tests due to cover or cost hurdles,” said Rigby.
In order to make the diagnosis even more complicated, there are cases in which the disease is so rare that it simply does not exist that information and treatment options are not available. Rigby found that women and humans can have a particularly difficult diagnosis at birth (AFB). “For women with a rare illness, a diagnosis can include additional hurdles, since gender -specific prejudices can lead to concerns relieved or incorrectly relieved,” she said.
Read: Rare diseases 101 >>
Obstacles to access the treatment of rare diseases
Sabrina Riddle, 2023
People with rare diseases face many different challenges when it comes to access to treatment. These challenges can include:
- Discussion costs
- Location of specialists/treatment centers
- Lack of specialists
- Lack of health insurance protection
- A lack of availability of medication
- Lack of approved treatments
In the United States, only 5% of the rare diseases have medication approved by the Food and Drug Administration (FDA) for treatment. And the way to the FDA permit can be slow.
For example, treatment from the FDA to treat a strict clinical study process must follow and demonstrate results that prove that the treatment is effective.
Unfortunately, clinical studies can be difficult for rare diseases, since the disease affects a smaller pool of humans and may not be financing of research.
Medicines for rare diseases also have lower success rates compared to mass medication. “Generally failing for every therapy that fails on the market – approved and available for patients,” said Rigby.
Reading: A rare illness called PBC taught me to speak >> >>
Patient representation and rare illness
From diagnosis to treatment, it is important to have reliable, fact -based information if you have a rare illness. As with many health conditions, rare diseases can be present in different ways, and the symptoms can vary from person to person.
Resources such as the national organization for rare disorders, the information center for genetic and rare diseases and global genes contribute to combining people with available research and data, expert and patient representative groups.
Finding a patient representative group is particularly important for people with rare diseases, since patient lawyers are often the point for different types of support resources that can include:
- Financial aid to the insurance company
- Financial aid for care
- Emotional support
- Resources and help for nurses
- Support in the test
Innovation options in the treatment of rare diseases
“The development of therapy for rare diseases requires a different way of thinking, from the way we carry out clinical studies, to therapies and quick track therapies,” said Rigby. “Legislative Advocacy plays an important role in promoting innovation and enabling faster diagnosis, better clinical care, innovations in research and science and more effective therapies.”
Last year, the FDA started the innovation center for rare diseases as a collaboration for the Center for Biological Affairs and Research (Cber) and the Center for Pharmaceutical Assessment and Research (Cder) to improve results for people with rare diseases. Part of the mission is to deal with challenges such as access and delays in diagnosis and to increase participation in clinical studies.
Advances in technology also help to promote research, access and treatment options. “Today there is technology to accelerate a diagnosis and to reduce the time to answers for patients and their families who use the sequencing of the entire exomerus/the entire genome. There is an advance to add this technology to support newborn -screening, but this still has to be accepted as a standard protocol,” said Rigby.
Other advanced technologies such as artificial intelligence (AI) support data acquisition, the improvement of the diagnosis and reduce costs. The Advanced Research Project for Health Agency has recently invested $ 48 million in AI-controlled platforms in order to reuse existing medication in order to eliminate rare diseases that have no treatment options.
According to Riddle, progress in innovation cannot come early enough for people like them who live with a rare disease. “I am very happy about the research and the attempts that are carried out. But I’m looking forward to the day on which I can say” healing “instead of” remission “.”
resources
Global Advocacy Alliance
Global genes
National organization for rare disorders
The clinical research network for rare diseases
Brave parenting network
Rare diseases internationally
International research consortium for rare diseases
This educational resource was created with the support of Amgen, a healthy member of the Corporate Advisory Council.
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