Rare Disease Day, launched in Europe in 2008, is held the last day of February every year and seeks to raise awareness of the impact that rare or orphan diseases have on the lives of patients and those who care for them. The USA joined the campaign in 2009 and over 80 countries throughout the world participated in 2016. The theme for 2017 is “RESEARCH” and the slogan is “With research, possibilities are limitless.”
- In the USA a rare or orphan disease is defined as a disease that affects fewer than 200,000 Americans at any given time.
- Rare diseases are characterized by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease.
- 80% of rare diseases have genetic origins, while others are the results of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.
- There are over 7000 different rare diseases and disorders, affecting over 60 million people in Europe and the USA alone, with more being discovered each day.
- 30 million people in the United States are living with rare diseases.
- Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease.
Lack of scientific knowledge and quality information of a rare disease often results in a delay in diagnosis. Access to treatment and care is a challenge due to the need for appropriate quality health care, which often leads to social and financial burdens on patients. Due to the rarity and diversity of rare diseases, research needs to be international for the benefit of pooling resources, to ensure that experts, researchers and clinicians are connected and that clinical trials are multinational.
The Orphan Drug Act was passed in 1983 to encourage pharmaceutical research into drugs to treat rare diseases and conditions. However, only about five percent of rare diseases have drugs that have been approved by the Food and Drug Administration as therapies.
This is Hampton and he is three years old. The grandson of a Maxor Specialty employee, he was diagnosed with Rothmund-Thomson syndrome (RTS) when he was about one year old. The prevalence of RTS is unknown, but only about 300 cases have been reported world-wide. RTS is transmitted in an autosomal recessive manner. Diagnosis is based on clinical findings and analysis of RECQL4 gene mutations. Key features of RTS include early photosensitivity and skin changes, juvenile cataracts, skeletal dysplasias, and a predisposition to bone and skin cancers. The prognosis in RTS is variable; life expectancy is normal in the absence of cancer. Hampton has had cataract surgery on both eyes and sees his ophthalmologist every 3 months, and other specialists as needed. He is currently attending a Preschool Program for Children with Disabilities (PPDC) as well as occupational and physical therapy.
Rare Disease Day is February 28, 2017, and is open to everyone! There are many ways to participate and join efforts to give hope to rare disease patients all over the world. Visit www.rarediseaseday.org for more information on ways to become involved.
“With research, possibilities are limitless.” Maxor Specialty is proud to support this initiative, and to help people like Hampton live life to the fullest with efforts from rare disease research and a dedicated care team.
About Maxor Specialty:
Maxor Specialty is staffed and experienced in rare and orphan diseases. We focus on the most complex disease states, along with their challenges and opportunities, for complete care of the patient including managing the complexity of the condition and all related, necessary therapies. Since 1986, we have been dedicated to providing infusion therapy, respiratory and specialty pharmacy services to patients nationwide in order to assist them in regaining fundamental independencies, addressing all aspects of specialty and infusion pharmacy care with a personalized high-touch approach.