My Commitment to the Newly Diagnosed and All People Living with Myasthenia Gravis
For as long as I can remember, I have been drawn to science. I look back on my days in elementary school, learning about the nervous system, and remember how transfixed I was about how much there was yet to learn about the complex systems of the human body.
Since then, it’s been my passion to seek out answers wherever questions arise. In college, I followed that passion to pursue a degree in biochemistry and molecular biology. My inquisitive nature then led me to complete a Ph.D. in neuroscience and physiology. At the time, I dedicated my research to my grandfather who was living with Parkinson’s disease. Watching his journey inspired me to further my knowledge of the nervous system so I could help others impacted by neurological conditions.
Fifteen years ago, my passion for digging deeper to see connections in neurology eventually led me to UCB. Working as a medical science liaison, I was able to communicate science to patients and caregivers so they better understood how our medicines worked. Now, as the newly appointed Head of U.S. Rare Diseases at UCB, I am more motivated and committed than ever to uncovering meaningful scientific and patient solutions that can help improve the lives of people living with rare diseases.
Addressing Unmet Needs of People Living with Rare Diseases
The facts speak for themselves: 300 million people worldwide live with a rare disease. Of the approximately 6,000 rare diseases identified, 95 percent still have no treatment option, and up to 90 percent are considered serious or life threatening. Despite all the years I have been working on severe diseases, I am particularly moved by the unmet need that the rare disease community faces in addition to the often unpredictable and poorly researched symptoms of their condition, and the challenges patients face, which can be magnified by isolation.
That’s why I’m so proud that UCB has been expanding our efforts to develop treatments for rare neurological and immunological diseases. By embracing new types of therapies, our teams are not only dedicated to investigating solutions for rare epilepsy syndromes but are also working on a late-stage development program for Thymidine kinase 2 deficiency (TK2d). TK2d is a rare genetic mitochondrial disease with no approved therapies. It is defined by severe muscle weakness (called myopathy) and can affect life in a range of ways. Many patients lose the ability to walk, eat, and breathe independently. Tragically, it is also often life-threatening.
We aspire to solve questions and find solutions for people living with these rare diseases so that they might find relief and experience a better quality of life. We reaffirm our pledge to continue to gather knowledge about the lived experience and unmet needs of people living with rare diseases because everyone deserves to live the best life they can. Let’s take a closer look into one of these rare conditions, myasthenia gravis (MG), for which our teams are dedicated to providing novel therapies.
A Deeper Look at Myasthenia Gravis
Myasthenia gravis is a debilitating, chronic and fluctuating autoimmune neuromuscular disease where the body’s immune system mistakenly targets the connections between nerves and muscles.1 People living with MG face a significant burden in terms of journey to diagnosis, support, treatment, and management of symptoms. Many patients can feel lost due to the broad, inconsistent symptoms, which can then be compounded by the complex specialist landscape, leaving patients with an unclear path forward. According to The Lived Experience of Myasthenia Gravis: A Patient-led Analysis, MG takes a significant emotional toll on patients, with their lives dominated by unpredictable, fluctuating symptoms. This study also stated that over 70% of patients reported feeling as though their treatment goals are not being met.2,3
A Complex Journey – From Diagnosis to Self-Advocacy
Making life with this condition all the more burdensome, a majority of people with MG face a twisting, turning, uphill battle to receive a proper diagnosis. Glenda Thomas, who was diagnosed nine years ago, shared that “it took around two years from the onset of my symptoms to receive my MuSK-MG diagnosis, which is a rare form of MG. During that time, my symptoms were progressive, and I made appointments with my primary care physician, physical therapists, and even specialists at a spine clinic, and we still couldn’t pinpoint what was wrong.” Unfortunately, stories like Glenda’s are not uncommon for patients with MG, as symptoms can be commonly misdiagnosed as other conditions that cause weakness and fatigue, like fibromyalgia and MS. They can also be misdiagnosed as stress, mental health conditions, and even diabetes.4
This complex diagnosis journey prolongs the time lapsed before you can find the right specialist and, in turn, the right care plan. Finding the right combination of treatments can also prove challenging for both patients and their families, as they continue to endure the daily and uncertain burden of the disease.
As a proponent of self-advocating, Glenda further shares that, “it has always been important to me that I self-advocate in my doctor-patient relationships because at the end of the day, I know my body best.” She encourages others to strive to be open and honest about their symptoms and express when they don’t feel heard or see the result they hope for, so that they can work with their doctor to find the right treatment plan.
Connecting the Dots to Drive Holistic Solutions
We owe people living with MG, like Glenda, the support to address gaps in care and the opportunity to enjoy a fulfilling life. This drives our focus on patient-centered research, disease education, and advocacy efforts to fully understand the lived experience for those with MG to bring forth differentiated solutions. For example, UCB is partnering with digitally driven analytics companies, like Sharecare, to conduct observational studies that help deepen our understanding of the disease and lead us in the right direction for targeted treatment options. Additionally, UCB is currently reviewing public policy opportunities that address current challenges facing patients, including accessibility, affordability, and telehealth, to help improve the patient experience.
UCB has a promising pipeline of differentiated therapy options that target the underlying causes of MG. Two investigational treatments, with different mechanisms of action, have completed Phase 3 clinical trials and are moving towards submission for FDA review later this year. Our team is hopeful that these targeted therapies will provide patients with the results that meet their individual needs and help them to live their best moments moving forward.
We acknowledge the need for greater understanding and purposeful action. Our efforts all ladder up to our holistic approach to bring unique, tailored solutions and support to people living with rare conditions, focusing on individual patients. As part of our commitment, we seek to embody empathy and a deep appreciation for the patient experience that changes the ways in which we provide care and take action. UCB is here to provide support, reminding all people living with rare diseases that, though the road isn’t easy, they are not alone.
To learn more about MG and find resources to help you along your journey, visit https://www.gmgneverrests.com/.
- Myasthenia Gravis Foundation of America. Myasthenia gravis infographic. https://myasthenia.org/Portals/0/MG%20 Infographic%20Final.pdf (Last accessed: November 2021)
- Law, N., Davio, K., Blunck, M. et al. The Lived Experience of Myasthenia Gravis: A Patient-Led Analysis. Neurol Ther (2021) https://doi.org/10.1007/s40120-021-00285-w
- UCB data on fi¬le – Ra Pharma market research.https://gmgneverrests.com/sites/default/files/2021-02/Survey%20of%20People%20Living%20with%20gMG_0.pdf (Last accessed: May 2022)
- UCB Data on file - Real Chemistry 2021 the MG patient experience
- McQuillen MP. Ocular myasthenia gravis. Ach Neurol 1997;54(3):229
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