It may come as a surprise that rare diseases affect more people than cancer and AIDS combined. In fact, about 30 million people in the United States and 350 million people worldwide are battling a rare disease.1
Rare diseases affect 30 million Americans and 350 million people worldwide.
Beginning in 2008, one day a year was set aside to help these millions of people by increasing international awareness of rare diseases. To make it official in the United States, in 2014 the US Senate issued a proclamation declaring February 28th Rare Disease Day.2
Public awareness days and campaigns are imperative to advocacy groups. They serve to create an enthusiastic community and proactively engage key audiences to raise awareness of the important issues that can motivate policy development or change. Rare Disease Day gives a united voice to patient advocates, caregivers who are tirelessly looking for answers, and patients who feel like they are living in a nightmare day-to-day.
This year’s theme for Rare Disease Day is Living with a Rare, Disease-Day-by-Day, Hand-in-Hand.3 Rare Disease Day will provide more opportunities for patients to tell their stories and increase policy discussions and fundraising opportunities.
This year’s theme for Rare Disease Day is Living with a Rare, Disease-Day-by-Day, Hand-in-Hand.
Unlike diseases that affect millions of people, each rare disease may affect only tens of thousands, or even fewer. By definition, a rare disease—which can also be referred to as an orphan disease—is any that affects a small percentage of the US population, about 200,000 Americans, at a given time.4 So, alone, each rare disease receives little attention.
But about 7,000 rare diseases have been identified.1 For a more accurate picture of the numbers of people with rare diseases, imagine that everyone in the world with a rare disease lived in one country. If so, the population of that country would be about the size of the United States. Because of these large numbers, and because most rare diseases are chronic and debilitating, collectively they represent a large challenge to medicine and a major public health problem.5
About 7,000 rare diseases have been identified. If everyone in the world with a rare disease lived in one country, the population would be about the size of the United States.
Two examples of rare diseases are Duchenne muscular dystrophy (DMD) and cystic fibrosis (CF). DMD affects mostly boys and results in in progressive muscle degeneration and loss of strength. DMD is the most common fatal genetic disorder diagnosed in childhood.6 Muscle weakness can begin as early as 3 years of age, first affecting the muscles of the hips, pelvis, thighs, and shoulders and later the voluntary muscles of the arms, legs, and trunk7The result is difficulty in raising the arms, climbing stairs, and maintaining balance. By the early teens, the heart and respiratory muscles are involved. Until recently, boys with DMD did not survive beyond their teens. Due to advances in cardiac and respiratory care, life expectancy is increasing and survival into the early 30s is becoming more common. However, much more work needs to be done for these patients who are typically wheelchair bound at a very early age.
CF is a life-threatening genetic disorder in which children inherit a faulty gene from each parent, who likely do not have CF.8 The symptoms and severity of CF vary over time. CF primarily affects the lungs and digestive system. Mucus in the body becomes thick and sticky and builds up in the lungs, blocking the airways. The thick mucus can also block tubes in the pancreas, causing severe digestive problems. The buildup of mucus also causes bacteria to grow, leading to serious lung infections that may lead to permanent lung damage in time. As with DMD, the symptoms and severity of CF worsen over the years. Not long ago, few children with CF lived through elementary school. Today, with increased funding and treatment options, dramatic improvements in life expectancy and quality of life have been realized. It is not uncommon for patients living with CF to now live into their 30s.9
For children with rare diseases such as Duchenne muscular dystrophy and cystic fibrosis, increased funding, new treatment options, and advances in supportive care have improved life expectancy and quality of life.
Although individuals with rare disease have many challenges, the major barrier is getting an accurate diagnosis, mainly because many doctors may never have heard of or seen a person with the disease. For most people with a rare disease, it takes close to 8 years, an average of 10 different specialists, and multiple misdiagnoses to identify the true disease.1 Both before and after a diagnosis, these patients and families face obstacles to obtaining quality care,including a lack of resources and information, along with heavy economic and emotional tolls.
The major barrier patients with rare diseases face is getting an accurate diagnosis , which can take almost 8 years, with patients seeing some 10 different specialists and being misdiagnosed multiple times.
About half of rare diseases affect children. Sadly, a good portion of these children will not live to their 5th birthday.1 The ramifications of these conditions also affect the entire family, friends, caregivers, physicians, payors, and society as a whole. Therefore, there is an urgent need to understand gaps in care and support.
About half of rare diseases affect children, a good portion of whom will not live to be 5 years old.
This is, however, a time of progress and hope. Under Ronald Reagan, the Congress passed the Orphan Drug Act of 198310 to stimulate the development of drugs for rare diseases. Prior to passage of this historic legislation, private industry had little incentive to invest money in the development of treatments for these small patient populations because the drugs were not expected to be profitable. The Act provides several incentives to private industry to encourage the profitable development of new products. The Act is considered quite successful and has resulted in hundreds of approved products for rare diseases. But there is still a lot of work to do. Most rare diseases do not have a single FDA-approved drug treatment, leaving millions of Americans with little to no treatments.1
On Rare Disease Day, hundreds of patient organizations from around the world raise awareness about the challenges these individuals and their families face. Last years’ Rare Disease Day reached 268 million people.2 We are asking that our Philadelphia readers join Connexion Healthcare, the Commonwealth of Pennsylvania, the United States, and more than 80 countries participating in Rare Disease Day. For more information on how you can get involved, please visit the following links.
About the Connexion Healthcare Rare Disease Center of Excellence
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 specially 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.
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 pre-launch, launch, and postlaunch communications in numerous rare congenital and genetic disorders, movement disorders, metabolic disorders, lysosomal storage disorders, lung diseases, blood diseases, skin diseases, 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
Robert M. Francomano
Senior Vice President
Rare Disease Center of Excellence
- World RARE Disease Day. Available at: https://globalgenes.org/wp-content/uploads/2015/01/WRDD_factsheet.pdf. Accessed February 25, 2015.
- NORD. Rare Disease Day USA. February 28, 2015. Successes from Past Years. Available at: http://rarediseaseday.us/about/successes/. Accessed February 25, 2015.
- Rare Disease Day 28 February 2015. Theme of the Year: Living With a Rare Disease. Available at: http://www.rarediseaseday.org/article/theme-of-the-year-living-with-a-rare-disease. Accessed February 25, 2015.
- Rare Disease Day 28 February 2015. What Is a Rare Disease. Available at: http://www.rarediseaseday.org/article/what-is-a-rare-disease. Accessed February 25, 2015.
- De Vrueh R, Baekelandt ERF, de Haan JMH. Background Paper 6.19. Rare Diseases. Update on 2004 Background Paper. March 12, 2013. Available at: http://www.who.int/medicines/areas/priority_medicines/BP6_19Rare.pdf. Accessed February 25, 2015.
- EndDuchenne.org. About Duchenne. Available at: http://www.parentprojectmd.org/site/PageServer?pagename=understand_about. Accessed February 25, 2015.
- MDA. Duchenne Muscular Dystropy (DMD). Available at: http://mda.org/disease/duchenne-muscular-dystrophy/overview. Accessed February 25, 2015.
- National Heart, Lung, and Blood Institute. What Is Cystic Fibrosis? December 26, 2013. Available at: http://www.nhlbi.nih.gov/health/health-topics/topics/cf. Accessed February 25, 2015.
- Cystic Fibrosis Foundation. About CF. http://www.cff.org/aboutCF. May 1, 2014. Available at: http://www.cff.org/aboutCF. Accessed February 25, 2015.
- Department of Health and Human Services. Office of Inspector General. The Orphan Drug Act. Implementation and Impact. May 2001. OEI-09-00-00380. Available at: https://oig.hhs.gov/oei/reports/oei-09-00-00380.pdf. Accessed February 25, 2015.