By Michele Cunningham
While individually rare, collectively there are more than 7,000 rare diseases that affect nearly 30 million people in the U.S.[i] Their symptoms and disabilities may vary, but the stories they tell, share many commonalities; namely, their paths to diagnosis were frustratingly long, discouraging, and often riddled with far more questions than answers. The years-to-decades long journey to diagnosis has a substantial impact on patients and their loved ones.
Misdiagnosis, failure to diagnose, or sheer lack of any diagnosis, is the unfortunate reality for so many people with rare diseases. Why? Because in medicine, the symptoms of a patient often mimic a variety of illnesses. A skilled physician or diagnostician will use probability when deciding which ailment is the most likely — we hear from doctors often that they are inherently trained to look for horses when they hear hoof beats, not zebras.
So, what can be done to narrow the gaping diagnostic hole in rare disease? There are several tangible ways rare disease leaders can affect change.
Better understand the origin and development of rare disease
While the exact cause for many rare diseases remains unknown, for a significant portion, the problem can be traced to genetic mutations.[ii] Many of these genetic alterations can be passed on from one generation to the next, explaining why certain rare diseases run in families. At Strongbridge, we recognized that a gene panel test for people living with an ultra-rare neuromuscular condition called Primary Periodic Paralysis, or PPP, could bring HCPs and their patients closer to potentially uncovering the genetic cause behind their extreme muscle weakness and debilitating episodes of paralysis. In 2017, we partnered with Invitae, a leading genetic information company, to offer a no-cost periodic paralysis gene panel test for those who experience the signs and symptoms of hyperkalemic or hypokalemic periodic paralysis. The initiative, called Uncovering Periodic Paralysis, aims to bring more reliable genetic testing to the community, which will empower medical professionals with the right information to facilitate improved clinical management of the disease.
Humanize the experience for doctors
While true for all diseases, harnessing the power of the patient testimonial in rare diseases is particularly vital. One of the best ways to facilitate and encourage a meaningful dialogue — whether that be patient-to-patient, or patient-to-doctor — is to create and nurture a community of like-minded patients and/or caregivers who want to share their stories with others. Strongbridge’s patient ambassadors speak directly to other PPP patients, but also with physicians about their unique experiences, including the myriad of challenges they face. We strive to create opportunities for the medical community to gain a better understanding of how the experience of having a rare disease is different from having a more common disease. If hearing directly from a patient inspires even one more medical student or physician to investigate the disease more fully, we consider that an important step forward for the ultra-rare PPP community.
Pique healthcare professional interest early on
More initiatives such as the National Organization of Rare Disorders (NORD)’s Student Chapter Program are needed to cultivate and groom the next generation of rare disease medical, pharmacy and genetic counseling professionals. The program currently has ten chapters at universities across the country where participants learn about diagnostic challenges, technical advances in the field, as well as the patient experience. For undergraduate and high school students looking to explore the rare disease world before entering into a professional program, NORD works with students to educate their peers and spread awareness of rare diseases throughout university and high school campuses.[iii] Given one in ten Americans has a rare disease,[iv] and to date the Undiagnosed Diseases Network has discovered 31 syndromes not previously known,[v] we desperately need more opportunities for students to learn how to separate the zebras from the horses.
The good news is, progress for rare diseases is underway. For example, during the 2017-2018 calendar year, the U.S. Food and Drug Administration approved 52 novel drugs under its orphan drug program.[vi] But much more work needs to be done. Strongbridge believes that combining industry efforts with the work of patient advocacy groups can make substantial progress to shorten the diagnostic odyssey and bring new treatment options to patients with rare diseases.
If you or someone you may know wants more information about Primary Periodic Paralysis, visit: www.PavingMyPPPath.com. To learn more about NORD and its initiatives, visit: www.rarediseases.org. For more information about Strongbridge’s commitment to the development and commercialization of therapies for rare diseases with significant unmet needs, visit: www.strongbridgebio.com.
Michele Cunningham is vice president, marketing and commercial operations at Strongbridge Biopharma
[i] National Institutes of Health. National Center for Advancing Translational Sciences. FAQs About Rare Diseases. Last accessed March 20, 2019. https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases
[ii] Field M.J. and Boat T.F. (2010). Rare Diseases and Orphan Products: Accelerating Research and Development. Institute of Medicine (US) Committee on Accelerating Rare Diseases Research and Orphan Product Development; Last accessed March 20, 2019. https://www.ncbi.nlm.nih.gov/books/NBK56184/
[iii] National Organization of Rare Disorders. Educational Initiatives. Last accessed March 20, 2019. https://rarediseases.org/get-involved/educate/educational-initiatives/
[iv] Rare Disease Day 2018. A Message from the Commissioner. U.S. Food and Drug Administration. Page Last Updated: 10/18/2018. Last accessed March 20, 2019. https://www.fda.gov/ForIndustry/DevelopingProductsforRareDiseasesConditions/Events/ucm593077.htm
[v] Splinter K. et al. Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. N Engl J Med. 2018; 379:2131-2139. Last accessed March 20, 2019. https://www.nejm.org/doi/full/10.1056/NEJMoa1714458
[vi] Center for Drug Evaluation and Research Advancing Health Through Innovation: New Drug Therapy Approvals (2017 and 2018). Page 10. https://www.fda.gov/downloads/AboutFDA/CentersOffices/OfficeofMedicalProductsandTobacco/CDER/ReportsBudgets/UCM591976.pdf https://www.fda.gov/downloads/Drugs/DevelopmentApprovalProcess/DrugInnovation/UCM629290.pdf