AARDA: Addressing Autoimmune Disorders through Awareness, Advocacy & Action
By CINDY SANDERS
When it works efficiently, the immune system is an elegant masterpiece of defense mechanisms warding off foreign invaders, including bacteria, cancers and the current novel coronavirus. For as many as 50 million Americans, however, a glitch in the system leads to chronic disease that can be difficult to identify and harder to manage.
"The body literally turns on its own tissues with a disproportionate overreaction," noted Randall Rutta, president and CEO of the American Autoimmune Related Diseases Association (AARDA). That internal attack manifests in scores of ways with targeted assaults on organs, tissues, joints, glands or the entire body. "We now believe there are at least 130 separately identifiable autoimmune diseases," said Rutta.
AARDA was founded in 1991 by Virginia Ladd, who herself has autoimmune disease and was a leader in the lupus movement. Although support organizations and research efforts existed for a number of the more well-known autoimmune diseases including lupus, type 1 diabetes and rheumatoid arthritis, Ladd began to wonder why there wasn't an umbrella organization to advocate for all the diseases that fall into the autoimmune category. "We needed to understand the common denominator of those diseases," Rutta said of the impetus to form AARDA. "Sadly, to this day, we still don't fully understand the underlying causes of autoimmune disease."
While there are still many mysteries, Rutta said a lot has been discovered over the ensuing decades. Autoimmune disease primarily impacts women, often in their late teens, 20s, 30s and 40s as they are building careers and families. There is a familial component to developing autoimmune disease and having one disorder increases the risk of developing others over a lifetime. "Thirty percent of people who have a single autoimmune disease will actually have two or more," explained Rutta, adding support for those with multiple conditions is exactly why AARDA is so unique and important.
Even with an increasing body of scientific evidence, pinpointing a specific autoimmune disease is often a difficult endeavor for both patients and providers. Although some conditions like type 1 diabetes have definitive markers, most diseases in the autoimmune spectrum are much more difficult to identify. "The journey to diagnosis can take three to five to seven ... or even 10 ... years," said Rutta. "It's the rare person who on first referral gets to the specialist who will ultimately treat them." Rutta noted getting the right combination of referral, diagnosis and treatment remains tough for many Americans. "One of AARDA's key objectives is shortening that time to diagnosis," he added.
While providers are more aware of autoimmune disorders now, diagnosing still relies heavily on a process of elimination. "Fatigue is a shared condition across almost all autoimmune disease," said Rutta. However, AARDA found the way fatigue is interpreted varies significantly by gender. Rutta said the organization funded a study several years ago focused on fatigue. Men who told providers they felt constantly fatigued were taken seriously. The women were often told everyone gets tired and were labeled chronic complainers. "There's definitely a gender bias there," Rutta stated.
One of the problems, he continued, is accurately measuring levels of fatigue. While everyone does get tired at times, those with autoimmune disease typically face overwhelming fatigue that can make it difficult to even get out of bed at times. Rutta said AARDA is proposing a collaboration with the Patient-Centered Outcomes Research Institute (PCORI) to better understand how fatigue is being identified as a first step toward improving measurement and benchmarking of the common symptom.
Despite ongoing diagnostic difficulties in autoimmune disease, Rutta said, "It's still an area, from a medical science perspective, that's advanced leaps and bounds."
After years without targeted medication options, there have been significant advances more recently. "Increasingly, physicians can choose from multiple treatment options," said Rutta. "Previously, the only option was to manage symptoms with steroids - often with severe side effects and lasting damage."
He continued, "What we have seen that has been life-changing advancements in biologics. These are breakthrough medicines produced by living organisms." Rutta added the field has advanced to a point where biosimilars are beginning to become available, making treatments more widely accessible and affordable than the original branded biologics.
"Gene therapies hold a lot of promise that are just coming on the horizon," continued Rutta. He noted with excitement that these newer developments could potentially lead to cure rather than symptom management.
Newer rules and regulations for orphan and rare drugs have also helped. Through the FDA fast track program for breakthrough drugs, teprotumumab-trbw has just been approved to treat thyroid eye disease (TED), most commonly associated with Graves' disease. The rare condition causes the muscles and fatty tissue behind the eyes to become inflamed, causing the eyes to push forward and bulge outwards. Previously, the only hope to slow the disease was steroid injection or to surgically scrape sockets to try to make more room for the eye.
"If this new drug is administered to someone during the five-year active phase of the disease, the result for many patients is to stop progression and even reverse harmful effects," said Rutta.
He continued, "This also speaks to why the journey to diagnosis needs to be faster." To that end, Rutta also is encouraged by the discovery of more biomarkers and advancing diagnostic tools to improve time to treatment.
"We knew right away when the CDC started talking about underlying conditions, those with autoimmune disease would be included," said Rutta. However, he added, much of the public messaging has focused on diabetes, heart disease and respiratory illnesses. Part of AARDA's task has been getting the word out that everyone with any form of autoimmune disease is at higher risk for more severe disease with the current coronavirus. AARDA established a dedicated COVID-19 resource on the website to ensure accurate information is available.
On the treatment front, he said, "COVID-19 has been very disruptive. For most people sheltering in place, they couldn't just ask for an extra 30-day supply of medicine."
Drugs and biologics to treat autoimmune disorders are often expensive with high co-pays that could make it cost prohibitive to prepay for extra months, even if a patient could get it approved. Additionally, a lot of patients receive infusions or injections at hospital-based clinics. Between overwhelmed hospitals and patients trying to steer clear of potential coronavirus hot spots, it has made it difficult to receive treatment. Rutta said AARDA applauds emerging actions by the government and insurers to help patients stick with their treatment regimens during the pandemic, through extra refills, options for home treatment, and telemedicine.
"Then, along comes the idea that hydroxychloroquine might treat the coronavirus, and all of a sudden lupus patients and Sjogren's patients, who also rely on it to survive, call their pharmacies and can't get it," said Rutta. "Those are real challenges for people with autoimmune disease. It's causing fear and stress. If there's one thing we know about autoimmune disease, it's that stress exacerbates their condition."
AARDA, on behalf of the National Coalition of Autoimmune Patient Groups, is co-hosting a virtual national briefing with the CDC in early April to discuss aspects of the pandemic that are of particular relevance to their constituency. Additionally, Rutta said AARDA is actively talking to legislators about ensuring access to medications and approving additional sites of care, potentially even in a patient's home, during the pandemic.
Ensuring patients have access to needed treatments isn't uniquely a COVID- challenge. Instead, it is an ongoing battle for many. "Too often insurance plans and PBMs (pharmacy benefit managers) use step therapy - utilization management practices and policies designed to control costs that are medically appropriate for the general population," explained Rutta. He added these policies often "cause unwarranted suffering and lasting damages for patients forced to take medicines they know will not help them or delay effective and prescribed treatments."
AARDA also looks to physicians to craft the coordinated, integrated care needed to manage autoimmune disease, and Rutta said treatment decisions should always be made by physicians in consultation with patients. "Providers must take a patient-centered view ... trust the patient in their description of their condition," he noted, adding it's also critical to engage patients as active partners and advocates in their own health and wellness.
Rutta urged employers, payers, legislators, providers and other decision-makers to keep those with autoimmune diseases in mind when crafting policies, treatment regimens and regulations. "If we can all understand autoimmune disease is a natural part of the human condition, we should make sure we aren't putting any barriers in place to inhibit people from living their best lives as we look for cures or therapies to manage symptoms," he concluded.