Tips for people with undiagnosed health conditions
On April 25, 2009, Mareander Mare’ of Bellingham went to clean up a fallen soap dispenser in the backroom of the jewelers where she worked. She slipped and fell face-first into a buffing machine.
“There was so much blood,” she recalls. “I remember getting up and I just couldn’t see because there was so much blood.”
Her left foot felt like it was broken and she had a large cut down her side. She spent more than seven hours in the emergency room, Mare’ says.
Two days later, her lips were still swollen and her left foot still hurt, but Mare’ presumed it was carry-over from the accident. Then, while lying in bed, she suddenly began to feel the swelling spreading and worsening.
“I started to realize that something was really wrong,” she says. “By that time I couldn’t even call out for my husband.”
I thought, how could this happen to me? I’m just one person in the universe, how could this happen to me?
Mareander Mare’, Bellingham
Mare’, 58, doesn’t exactly remember how, but she was taken to the emergency room at St. Joseph hospital, where a tube was inserted into her airway so she could breath even as the swelling escalated. It’s an unpleasant procedure called intubation.
Swelling episodes continued to sporadically send Mare’ to the hospital for almost four years. During that time, Mare’ says, doctors began to treat her as if she were faking the attacks.
“I’m thinking, ‘Have you ever been intubated?’ that is just the most miserable situation,” she says. “I thought, ‘Why would you want to be intubated?’”
It was a friend of Mare’ who eventually told her about hereditary angioedema (HAE), a rare and potentially fatal genetic condition characterized by episodic swelling in the hands, feet, face, and airway. Airway swelling can become so severe that patients die from suffocation.
The condition is so rare that patients often remain undiagnosed or wrongly diagnosed for years.
Mare’ discovered that not only did she have HAE, she had HAE type three, the rarest form of the disease. In addition, while there are medications for HAE types one and two, the medications for type three are not guaranteed to work for everyone.
“I thought, how could this happen to me?” she says. “I’m just one person in the universe, how could this happen to me?”
Fortunately, Mare’ found two physicians in Washington who work with HAE patients. One of them, Dr. Leonard Altman of Seattle, prepped staff at St. Joseph hospital in the protocol for dealing with HAE flareups.
If you don’t have hope, what do you have?
Mareander Mare’, Bellingham
Mare’ then began seeing Dr. Arthur Vegh of Tacoma, who has been treating her with infusions that cost $27,000 each.
In the meantime, Mare’ had her dog, a harlequin Great Dane named Howard, trained to push a button on an emergency-response system in her home whenever she has a swelling attack. When Howard triggers the system, responders call the home. If they don’t receive an answer, they send paramedics.
When she can, Mare’ takes comfort in collecting clothes and shopping online. She has always appreciated fashion, jewelry, and shoes.
But life is difficult with HAE. Mare’ says she feels trapped in her home. She still has difficulty walking on her left foot, but tells herself that life can change for the better.
“What it is is hope,” she says, “because if you don’t have hope, what do you have?”
U.S. Hereditary Angioedema Association: haea.org or 866-798-5598.
Genetic and Rare Diseases Information Center: GARD provides information for people who have, or might have, rare or genetic diseases, including tips for people who are undiagnosed, and how to find a disease specialist.
Contact GARD at rarediseases.info.nih.gov, at 888-205-2311, or by mail at Genetic and Rare Diseases Information Center, P.O. Box 8126, Gaithersburg, MD 20898-8126.