The last day of February is Rare Disease Day. There are approximately 7,000 different types of rare diseases with more being discovered every day. 30 million people in the United States are living with a rare disease which is 1 in 10 Americans or 10% of the population. About 50% of the people affected by rare diseases are children.
People with rare diseases face many challenges. Many doctors don’t recognize the symptoms and their patients represent a challenge to the medical community. Because these diseases are so rare there is a lack of financial or market incentives to treat and cure rare diseases.
I met Sarah Liles on one of my Facebook communities. Sarah lives with Eosinophilic Esophagitis (EoE). It is estimated that one in every 2000 people have it. EoE causes Sarah’s body to confuse food proteins for parasites. “My body attacks most foods causing inflammation and damage to the esophagus. Because of this I am on a very limited diet and have to drink a nasty amino acid based medical formula called Neocate to get my daily nutrition. The inflammation from EoE causes me to choke on foods and even liquids, so eating anything is a chore. Because of this, many people with EoE have to get feeding tubes. Along with having trouble swallowing, I also deal with nausea, esophageal spasms, constant sore throats, and fatigue.”
Because of these restrictions, social life can be difficult since many events revolve around food. For Sarah, this can be depressing when this means there will be pizza and a dozen more things she can’t have. Planning for vacations or trips are also difficult because the whole trip becomes about what she can eat, how she’s going to manage to take along what she needs and how to get it cooked.
“People who do not live with an Eosinophilic Disorder have a hard time understanding what the day to day is like. It is exhausting and so much more than ‘just allergies!'”.