In the United States, a rare disease or disorder is defined as one that affects fewer than 200,000 people at any given time, or a mere .06% of the population. According to the National Institutes for Health, there are currently more than 6,800 known rare diseases.
Sadly when a disease affects such a tiny percentage of the population, there is little incentive for scientists and drug companies to find a treatment or cure. Simply put, the more people who have a disease, the more potential there is for profit and people with rare diseases are left to suffer.
This Thursday, February 28th, is a chance to make a difference in the lives of people who suffer from rare diseases. It is the 6th annual Rare Disease Day – an international event to raise awareness of lesser known, but equally important diseases and their impact on patients’ lives.
Rare Disease Day is especially important to my family because my son was diagnosed seven years ago with a rare disease called Eosinophilic Esophagitis. It is an allergic inflammatory disorder in the esophagus though the inflammation can also appear in the gastrointestinal tract and in the blood. Symptoms tend to include: difficulty swallowing, choking on food, abdominal pain, chest pain, cramping, diarrhea, nausea, failure to thrive, weight loss, vomiting and reflux.
Eosinophils are a type of white blood cell not typically found in the esophagus and higher than average numbers of eosinophils are commonly caused by an internal reaction to a food. In some people, EE results in esophageal narrowing which can cause food to lodge in the esophagus and cause serious discomfort during eating and digestion. Patients with EE may also have other food or environmental allergies, asthma or eczema.
In the seven years since my son’s diagnosis there has been little significant progress towards a cure. There has also been little incentive for researchers to find one. That is why movements such as Rare Disease Day have such a strong potential to make a difference.
There are many ways you can help raise awareness, even if you do not have a friend or loved one with a rare disease. Here’s how:
- Participate in “Handprints On The Hill,” and help inform your elected officials about the challenges of living with rare diseases.
- Submit an image to “Handprints Across America,” to show the impact of rare diseases across the nation. If you do not have an image to upload, you can always browse the images.
- Go to facebook.com/rarediseaseday. ‘Like’ the Facebook page and take part in the conversation.
- Follow Rare Disease Day on Twitter (@rarediseaseday) or join the conversation via #raredisease.
Thanks for your support of Rare Disease Day!