Rare swelling Disease
How one woman helped change the treatment landscape for a rare swelling disease:
(ARA) – For more than 30 years, Janet Long’s life was a medical mystery. At the age of 7, she began experiencing unexplained, repeated and painful episodes of swelling all over her body.
For years, Long went from doctor to doctor to try and find a cause and a remedy for her swelling attacks, yet every doctor she saw was baffled by her symptoms, and a diagnosis was never made. As Long got older, her swelling attacks became more severe and debilitating, making it hard for her to do everyday tasks, like driving a car, typing on a keyboard, or holding down a job and maintaining an active social life.
“At my sickest, my swelling attacks would come one after the other, most frequently in my stomach and abdomen. I was pretty much incapacitated. During an abdominal attack, I would often look like I was four to six months pregnant,” Long says. “It was very painful, and I spent a lot of time just lying on the bathroom floor due to the pain, nausea and vomiting.”
Over the years, Long’s swelling was mistakenly linked to an assortment of conditions, ranging from allergies to sinus drainage. One physician even told her that there was nothing wrong with her, that it was all in her head. Despite the frustration of never knowing what was causing her swelling attacks, Long did not give up. She took control of her health by not taking “no” for an answer. Finally, at 40, Long was diagnosed. The cause – a rare, potentially fatal genetic disorder called Hereditary Angioedema (HAE).
HAE affects about 6,000 people in the United States. HAE is caused by a deficiency in a protein in the blood that controls swelling and is characterized by repeated swelling attacks that can occur anywhere in the body, including the arms, legs, hands, feet, stomach, genitals, face and most dangerously, the tongue or throat where swelling can cause death by suffocation.
Despite finally getting an accurate diagnosis of HAE, Long’s relief was short lived; she soon realized there were no viable treatment options available for her HAE. Recognizing the need for more awareness and better management options for people living with HAE, Long became empowered to ensure that she and the voices of all HAE patients were heard. She became executive vice president of the U.S. Hereditary Angioedema Association (HAEA), the premier advocacy organization for people living with HAE. Throughout the last 10 years, the organization has led the charge in advocating for more research and better treatment options for people with HAE. The HAEA’s efforts have been instrumental in the FDA approval of and access to new targeted therapies available for people with HAE.
While Long’s lengthy road to an accurate diagnosis and fight for treatment options may seem unique, it can be a common story for the 30 million people in the United States living with one of 7,000 rare diseases. Without widespread knowledge of many of these rare diseases and with a lack of medical experts and treatment options available, people living with rare diseases must become empowered to take control of their own health.
Long believes that everyone deserves access to a quick and accurate diagnosis and effective therapy – no matter how rare their disease – and has some tips for other people to advocate for their own health.
There is strength in numbers, so get involved with a patient advocacy organization like the HAEA. By becoming a part of a group dedicated to increasing awareness about your disease, you will be able to connect with others who share your journey and you will have access to more resources to help strengthen your own individual advocacy efforts. Create or join a listserv of people with your condition and refer often to your patient association’s website to stay updated on disease-related events or news. Become a volunteer for your patient group, perhaps adding your own life experience to educational materials that can be used to help raise disease awareness.
Educate your community
Educating others can be easy. Ask your doctor to write a letter about your condition to share with your school or employer, or print off information from your patient group website that you can use to explain your condition to doctors and emergency medical staff in your community. “You can also reach out to your local newspapers, radio and TV stations and ask them to help you raise awareness about your disease,” says Long.
Become your own expert
Today’s easy access to health-related information and resources on the Internet gives patients the ability to educate themselves about the latest disease research and treatment options, and as a result, become a more informed advocate. Just make sure the resources are from a reputable source, like the National Institutes of Health, a professional medical society website or the official patient advocacy group website. Staying up to date on new treatment developments can also help you better work with your doctor to identify the best treatment option for you.