Rare Disease Day
Author: Emily Walsh
Rare Disease Day was first established by the health organization EURORDIS
in 2008 to bring greater awareness to conditions that typically escape widespread notice. Since its outset, Rare Disease Day has been celebrated each year on the last day of February, with 94 countries around the world participating in 2017. Rare diseases are also known as orphan diseases, as they typically impact only a fraction of the population. In the United States, a disease is considered rare when it affects fewer than 200,000 Americans per year
. It may not seem like a lot, but currently one in ten Americans are living with a rare disease.
Rare conditions can be fairly diverse under the disease umbrella, including numerous forms of chronic illnesses, disabilities, and cancers. Collectively, there are around 7,000 rare diseases in existence. From conditions like Congenital Cytomegalovirus (CMV) that can affect the youngest of the population to malignant mesothelioma that can take up to 50 years to develop, rare diseases leave their mark on all walks of life. Despite their inherent differences, rare diseases often share disabling, chronic, and progressive symptoms that can severely impact a patient’s quality of life. Aside from a mutual rarity, these conditions are sometimes misdiagnosed or less publicized, lending to the anxiety and heartache a patient and their loved ones may feel.
Mesothelioma as a Rare Disease
Mesothelioma is a rare form of cancer caused by exposure to asbestos. Taking root in the lining of the lungs, heart, and/or abdomen, mesothelioma impacts 3,000 Americans each year. This cancer’s survival rate is exceedingly low
, with only nine percent of patients living five years or longer after diagnosis. Currently, the most common forms of mesothelioma treatment include chemotherapy, radiation, and surgery, but the specific treatment method or combination can depend on the stage of cancer, the cancer’s location in the body, and the patient’s overall health. Some experimental care options have been developed for mesothelioma, including immunotherapy, gene therapy, and photodynamic therapy. However, without funding and continual effort in clinical trials, these life-saving treatments may not see full accessibility.
Congenital CMV as a Rare Disease
Congenital CMV is a strain of the common cytomegalovirus that affects fetuses before birth. Where CMV shows symptoms similar to the common cold and typically goes away within a few weeks, congenital CMV can wreak havoc on a baby’s weak immune system, leading to severe birth defects and cognitive disabilities. It has been shown that one in every 200 babies born have congenital CMV
. Despite this, the awareness for congenital CMV is alarmingly low. Statistics show 91% of women are unaware of CMV and its effects. Currently, there are two antiviral drugs used to treat symptomatic congenital CMV, however their usage has been linked to severe side effects like anemia. Aside from additional developmental and physical disability therapies to help children cope with their condition, not enough has been done to effectively treat and prevent the spread of this condition. More research and resources are crucial to spreading awareness and combatting this disease.
The theme of this year’s Rare Disease Day is research
, encouraging advocates and organizations in the health sector to lobby for additional resources for rare conditions. Further focus and study needs to be dedicated to diseases that garner less attention but collectively plague so many. A lack of scientific data on rare diseases can lead to a delay in diagnosis, and furthermore, a delay in adequate treatment. This, combined with fewer financial incentives to look into clinical trials or experimental research, creates an imbalance in relief and care options for rare disease patients. Additional research will help speed the diagnostic process, bringing us closer to better treatment and, hopefully, a cure of the diseases themselves.
For conditions like mesothelioma and congenital CMV, it is vital that further research is conducted into treatment options to improve survival rate and the quality of life for patients. Rare Disease Day has the ability to inspire innovation in many branches of healthcare and clinical study. Now, more than ever, there is a push for health professionals and advocates to work hand in hand with researchers to address patient needs. This day serves as a reminder that further awareness is needed to fully address these conditions. With the theme of research, together we can push for more focus on these diseases, while bringing attention to the stories of those impacted by them every day.