Giving patients with rare diseases the mic to share their stories
By Kristie Cline, MBA
The contents of this article are informational only and are not intended to be a substitute for professional medical advice, diagnosis, or treatment recommendations. This editorial presents the views and experiences of the author and does not reflect the opinions or recommendations of the publisher of Rare Disease 360.
Chronic diseases can bring uncomfortable and sometimes life-threatening symptoms, and these challenges can be especially hard to navigate when patients feel alone.
Unfortunately, that’s often the case for people living with rare diseases. They may have the support of others around them but there is often a lack of true understanding of navigating life with a rare condition. It can be fatiguing to shoulder the responsibility of educating family and friends, as well as advocating for themselves with healthcare professionals. Many people with rare diseases are also troubled by never having met anyone else who shares their condition.
These obstacles can dramatically hinder organized efforts by both patients and advocacy professionals to raise awareness and garner support. As a patient advocate in the pharmaceutical space, I’ve grappled with these challenges for years and found that overcoming them depends on one key factor: continued listening to better understand and communicate the patient experience. We must ensure patients are heard and understood to create actionable insights for the pharmaceutical industry, which brings life-changing therapies to these patient communities.
Over the years, I’ve been inspired by many traits I have observed in patients living with rare diseases, particularly their strength, resilience, and desire to improve the experience for others who are walking the same path. Helping patients achieve that is what drives me every day, and by identifying and sharing the strategies that work, I also hope to bolster the success of my colleagues in the advocacy world to support patients across diseases and borders.
In my role at Pharming, I’m focused on raising awareness for a rare disease called activated PI3K delta syndrome (APDS).
This rare, genetic immunodeficiency, which often manifests in early childhood, can cause severe and chronic infections, autoimmune conditions, gastrointestinal problems, and malignancies. Fortunately, since the illness was fully characterized by scientists in 2013, the APDS community has benefited from some swift advancements.1-9
Despite this progress, many people—including patients and a variety of clinicians they may encounter in their search for answers—have never heard of APDS.
This is a common challenge across rare diseases—one advocates are working hard to overcome. There are a number of tactics that can make it easier to raise awareness, even when a disease is highly uncommon.
Learning From Patients
Early in my career, I was responsible for training team members, and my first piece of advice was always to “paint the patient picture,” detailing the symptoms and challenges associated with specific rare diseases so they could better acquaint physicians with these illnesses.
To ensure my team and colleagues had an understanding of these challenges, I created forums for patients and caregivers to describe their experiences living with rare diseases. To add additional emphasis, we also brought in clinicians to discuss how they cared for these patients, thus preparing the team to ask relevant questions when they visited medical practices and scientific meetings.
In the case of a rare disease like APDS, it can be difficult to bring patients together in person, as many people hesitate to travel or attend large gatherings because they are immunocompromised.
Embracing technology, through digital means and virtual focus groups, has enabled our team to learn from these patients in a manner that does not compromise their health and comfort. The insights garnered from these sessions can ultimately help to increase understanding of the disease state, highlight gaps in clinical research, guide clinical development, and encourage the creation of resources to address specific patient community needs.
Spreading the Word
When I joined Pharming, the company had already explored the APDS patient journey and understood the importance of sharing those findings externally. Additionally, we identified that this patient journey could manifest itself in different ways and with subtle nuances to the prognosis pathway, which only highlighted the vital need to communicate these findings.
Earlier this year, we showcased visually compelling illustrations, rendered by an artist during live focus groups, to depict the APDS patient experience at a scientific meeting. The illustrations featured several previously unpublished insights based on patient-reported information. This underscored the importance of sharing the patient perspective with healthcare providers to help them recognize these stories within their clinics and practices.
In the crowded medical meeting space, it’s key to grab the attention of conference attendees to help them remember the disease state and inspire them to learn more.
Creating Allies
I have witnessed the power of patient advocacy groups throughout my career and across disease states. At Pharming, I work closely with organizations such as the Immune Deficiency Foundation and the Jeffrey Modell Foundation, as well as the APDS Advocacy Coalition, which was founded in 2023 by a mother determined to help patients find each other, benefit from resources and information, and make their voices heard.
While there isn’t an advocacy group dedicated to every rare disease, patients and their supporters can also find resources and information through umbrella groups, such as the National Organization for Rare Disorders (NORD).
It is important to embrace and empower our partners in advocacy as they allow us to directly address the most pressing concerns and questions around a disease state. They not only amplify the patient voice in the most important ways, but when partnered with authentically and educationally, these stories and the content that elevates the patient, caregiver, and community voices can help change the way a disease state is viewed and supported by the industry, communities, and physicians.
In addition to providing support and education focused on improving quality of life, these organizations can also connect patients with advocates like me, who are dedicated to ensuring that their views are incorporated into the drug development process.
Finding Purpose
As a patient advocate, my primary goals are to offer education that can turn medical mysteries into diagnoses and to create communities bound by connectedness and understanding.
By forming meaningful partnerships with patients and advocacy groups, we can shape the course of drug development and play a key role in turning isolation into empowerment across the rare disease community.
Editor’s Note: If you’re interested in hearing more about first-person patient perspectives and stories, visit Rare Disease 360’s sister brand My Hero 360, and follow us on YouTube and Instagram. The first-of-its-kind digital community is dedicated to showcasing the human side of medicine by honoring, celebrating, and connecting unsung heroes in medical communities worldwide.
References
- Angulo I, Vadas O, Garçon F, et al. Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage. Science. 2013;342(6160):866-871. doi:10.1126/science.1243292
- Lucas CL, Kuehn HS, Zhao F, et al. Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency. Nat Immunol. 2014;15(1):88-97. doi:10.1038/ni.2771
- Deau MC, Heurtier L, Frange P, et al. A human immunodeficiency caused by mutations in the PIK3R1 gene [published correction appears in J Clin Invest. 2015 Apr;125(4):1764-5]. J Clin Invest. 2014;124(9):3923-3928. doi:10.1172/JCI75746
- Lucas CL, Zhang Y, Venida A, et al. Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K. J Exp Med. 2014;211(13):2537-2547. doi:10.1084/jem.20141759
- Jamee M, Moniri S, Zaki-Dizaji M, et al. Clinical, immunological, and genetic features in patients with activated PI3Kδ syndrome (APDS): a systematic review. Clin Rev Allergy Immunol. 2020;59(3):323-333. doi:10.1007/s12016-019-08738-9
- Maccari ME, Abolhassani H, Aghamohammadi A, et al. Disease evolution and response to rapamycin in activated phosphoinositide 3-kinase δ syndrome: the European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry. Front Immunol. 2018;9:543. doi:10.3389/fimmu.2018.00543
- Coulter TI, Chandra A, Bacon CM, et al. Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: a large patient cohort study. J Allergy Clin Immunol. 2017;139(2):597-606.e4. doi:10.1016/j.jaci.2016.06.021
- Elkaim E, Neven B, Bruneau J, et al. Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: a cohort study. J Allergy Clin Immunol. 2016;138(1):210-218.e9. doi:10.1016/j.jaci.2016.03.022
- Carpier JM, Lucas CL. Epstein-Barr virus susceptibility in activated PI3Kδ syndrome (APDS) immunodeficiency. Front Immunol. 2018;8:2005. doi:10.3389/fimmu.2017.02005
Kristie Cline, MBA, is senior director and head of patient advocacy for Pharming Healthcare, Inc. Previously, she held commercial leadership roles in the neurology and immunology spaces and led U.S. patient advocacy efforts across multiple therapeutic areas from clinical stage through commercialization. Her experiences in over 13 therapeutic areas, including several rare disorders, combined with her training and development background, have helped shape her cross-functional collaborative approach. Ms. Cline received a BS in chemistry and an MBA from Marshall University and is an active member of the Professional Patient Advocates in Life Sciences organization. This article was written for educational purposes and the views expressed herein are solely those of the author. Editorial support was provided by a third party and paid for by Pharming Healthcare, Inc. No financial compensation or incentives were provided.
