“He must be on drugs.”
“I think she’s drunk.”
“What’s wrong with his eyes?”
“He’s just lazy. He was perfectly fine the other day. He’s just trying to get out of work . . . again.”
These are some of the comments that the person with myasthenia gravis may not get to hear. They’re the type of remarks that are usually said out of earshot, and individuals with this disorder rarely get the chance to set the record straight. This is why disease awareness, especially in the realm of rare disease, is so critical. Communicating effectively with healthcare professionals (HCPs) who treat rare diseases requires specialization and an ability to understand the hurdles and challenges related to orphan drug development, approval, and communications to a selective audience of HCPs.
Myasthenia gravis (MG) is considered one of the so-called “invisible illnesses”, chronic disorders that generally aren’t noticeable to anyone but the person who has the disease. However, unlike many of the other invisible illnesses, MG is, ironically, just conspicuous enough to permit misunderstanding, rumors, and distrust of the person with the disease. This is because some of the first symptoms of MG are a drooping of the eyelids and slurred speech. As one patient with MG remarked, “I wish I could wear a T-shirt that says ‘I’m not drunk, I have myasthenia gravis.’”
Myasthenia gravis is an autoimmune neuromuscular disease that causes skeletal muscles to become easily fatigued with ordinary activity. What’s more, the disease is not limited to those muscles that we generally associate with physical exertion, but also attacks the neck and facial muscles, making it an effort for persons with MG to smile, speak, chew, and even to swallow. The most common symptoms, in fact, involve the optic muscles, leading to double vision and the tell-tale drooping of the eyelids (also known as “ptosis”). Most concerning, respiratory muscles may also be affected, causing breathing to become labored, and, in many patients, resulting in respiratory failure. With MG, symptoms occur intermittently, sometimes disappearing for weeks at a time. After a period of returned strength, the sudden unexplained recurrence of muscle weakness may baffle the undiagnosed person, while it may also make his or her claims of on-again-off-again disabling fatigue seem dubious to others.
One reason that MG is often misdiagnosed is the rarity of the disease: in the United States, only 36,000 to 60,000 persons have MG. (By comparison, about 1 million Americans have Parkinson’s disease, and approximately 300,000 Americans have multiple sclerosis.) This may make it easy for non-neurologist physicians to overlook atypical symptoms (eg, signs other than the characteristic drooping eyes) or to attribute them to myopathies other than MG.
Further confounding the picture, early in the disease course patients may spontaneously experience a lengthy remission, only to have the disease recur after years of being symptom-free. The disease course varies but is usually progressive, with atrophy of the most significantly involved muscles setting in after 15 to 20 years. The disease may be limited to ocular muscles in a large percentage of patients, but in others it may progress to a generalized MG (ie, involving multiple muscle groups)—and a substantial percentage of patients will undergo the life-threatening respiratory failure of myasthenic crisis at least once in the course of their disease.
With treatment, the prognosis for persons with MG is excellent. In the majority of patients receiving treatment, symptoms may be greatly improved, allowing persons with the disease to lead normal or near-normal lives. Approximately 80% of patients will experience remission (ie, at least 6 months with no symptoms) with pharmacologic therapy, while thymectomy may allow stable, complete remission (permanent absence of symptoms) in about half of the patients who undergo the procedure.
Despite this success, a smaller percentage of patients with severe MG that is refractory to conventional treatment remains. For those who are among this minority, intolerable medication side effects, increased suffering and debility from the disease, and the threat of death due to respiratory failure are highly urgent concerns that require solutions. Recently, efforts have been made to investigate clinical features of these patients to help address their unmet needs and to customize treatment strategies. With the results of such recent investigations in mind, alternative treatments need to be sought for these individuals whom conventional therapy has failed.
The Rare Disease Center of Excellence at Connexion Healthcare knows that traditional methods of communication are ineffective for rare disease markets. Our team understands the challenges of reaching small targets with the right scientific messages, and how to optimize dissemination of your data with a clear, scientific strategy and tactics that reach the select HCPs who care for these vulnerable patients.
About the Connexion Healthcare Rare Disease Center of Excellence
Connexion Healthcare is a full-service global provider of strategic medical and scientific communications with decades of experience providing exceptional service to the pharmaceutical industry. We provide services through 2 Centers of Excellence—Oncology and Rare Disease—and possess core expertise in these therapeutic areas and their marketplaces.
The Connexion Healthcare Rare Disease Center of Excellence specializes in communicating the science behind rare diseases and orphan drugs. We strategically partner with industry leaders in the rare disease community to proactively connect all stakeholders in launching products to underserved patient populations. Our team comprises skilled communications experts who plan, develop, and disseminate scientific communications based on their advanced knowledge of the science, the patient journey, healthcare providers, and the orphan drug approval process.
At Connexion, our cross-functional teams navigate complicated treatment and market landscapes by elucidating the appropriate pathways to brand success. We understand how brand strategy drives market share. Since launching its dedicated Rare Disease Center of Excellence, Connexion has developed prelaunch, launch, and postlaunch communications in numerous rare diseases and disorders: congenital and genetic, movement, metabolic, and lysosomal storage disorders; lung, blood, skin, and endocrine diseases; and rare cancers.
For further information regarding the Rare Disease Center of Excellence at Connexion Healthcare and how we can develop rare disease communications to differentiate therapies by their unique attributes, contact:
Susan Stein, MPH
SVP, Strategic Services and Business Development