Woman with rare disease overcomes adversity one mountain at a time

(BPT) - For most of her life, 44-year-old Tanya Howell was considered unreliable. She missed many days of work, even lost jobs and would frequently cancel on her friends and family at the last minute. She was particularly devastated when she needed to cancel on group outings, because she loves exploring and conquering the outdoors. The reason for her ‘flakiness,’ a term many of Tanya’s friends used to describe her, was because she was suffering from unexplained, debilitating swelling attacks that would come on quickly and cause swelling in different parts of her body at any given time. Most often the swelling and excruciating pain were located in her abdomen. These seemingly uncontrollable attacks used to confine Tanya to her bed for several days at a time.

Tanya’s mysterious nightmare lasted for two decades and entailed visits to specialist after specialist in pursuit of an explanation for her swelling attacks along with frequent visits to the emergency room. Over the years, she was misdiagnosed with a litany of conditions including ‘muscular uterus,’ gall stones, ulcers and allergies. Despite her determination to find answers, healthcare providers had failed to pinpoint the cause for her seemingly helpless condition. This caused Tanya extreme frustration, and she even suffered from bouts of depression.

Two years ago, Tanya finally found an answer to her unexplained swelling attacks. She visited an allergist and immunologist who recognized her symptoms and accurately diagnosed her with hereditary angioedema (HAE), an extremely debilitating and potentially life-threatening disease that can rob people of educational and career opportunities and cause decreased overall mental and physical health. HAE is a rare genetic disease that affects about 6,000 people in the United States. The disease causes repeated swelling attacks that can occur anywhere in the body, including arms, legs, hands, feet, stomach, genitals, face or throat.

The average HAE patient endures about 10 years of repeated misdiagnosis before the disease is accurately identified. In fact, approximately 68 percent of people with HAE in the United States are initially misdiagnosed because the symptoms of HAE mimic other disorders, such as an allergic reaction, appendicitis, and ulcers, among many others. There is a need for increased awareness of HAE given that patients have therapy options to help them.

After receiving an accurate diagnosis of HAE, Tanya was put on a preventive prescription therapy. With the frequency and severity of her HAE attacks helped by therapy and by seeing her physician regularly, Tanya has even been able to ski the Rocky Mountains and hike the Ice Lakes located in the San Juan Mountains of Colorado. She has also reached the summit of Mt. Humphreys in Arizona, followed by Mt. Whitney in California. She hopes to someday reach the summit of Aconcagua in Argentina, which is the highest peak in both the Western and Southern Hemispheres, and would be her biggest adventure yet.

“Whether it was meeting friends for a hike, a bike ride or even competitive events, having an HAE attack made it impossible. I was simply unable to show up because of the unbearable pain and swelling,” says Tanya. “I am grateful there are treatment options for people like me living with HAE because today, I feel I can do just about anything I put my mind to.”

Tanya also just recently competed in her first mountain bike race in Flagstaff, AZ and hit another major milestone – celebrating her one year anniversary with her husband. Tanya is so thankful that she and her husband can have a future together that is not purely dictated by her disease.

Now that Tanya has finally reached a place in her life where she is knowledgeable about HAE and feels in control of her condition and her future, her advice to other people who are living with a rare or chronic disease is to not be discouraged when seeking an accurate diagnosis, search for resources, know your limitations and shoot for the moon!

“I suggest that you leave no stone unturned in your quest to live a happy and active life,” says Tanya. “Do not be afraid; you are not alone. Being diagnosed with a rare disease is just one part of your journey."

To learn more about HAE and hear other stories from HAE patients like Tanya, visit www.HAEandMe.com, an online resource for people with HAE and their loved ones. To find a health care professional, visit www.HAEA.org, the official Web site of the U.S. Hereditary Angioedema Association.