When Lacey Williams was 4, she received a medical diagnosis that changed her life – and just may have saved it.
She was diagnosed with hereditary angioedema, a rare, potentially fatal swelling disorder affecting around 6,000 people in the United States. HAE patients have a defect in the gene that controls a blood protein called C1 inhibitor.
“My dad has it,” Williams said. “When my brother was born my parents decided to get us both tested. My brother and I both have it.”
HAE is characterized by debilitating swelling attacks that can occur at anytime, anywhere on the body. The frequency and severity of attacks vary among patients but can include:
• Swelling of the hands and feet, which may be so uncomfortable that patients cannot participate in normal daily activities.
• Facial attacks that can render patients unrecognizable until it resolves.
• Abdominal swelling that causes excruciating stomach pain, nausea, vomiting, diarrhea and dehydration.
• Laryngeal (throat) swelling that may lead to death due to asphyxiation.
Williams, 20, a student at Gonzaga University, said, “It’s a very deadly disease. Technically, I could not wake up tomorrow.”
Indeed, her family has firsthand knowledge of just how deadly HAE can be – Williams’ grandmother died from the disease. “My dad was 5 when she died. She was taking a nap. Nobody was home. Her throat swelled shut. When they found her she was reaching for the phone – but it happens so fast.”
When Williams’ father was 18, doctors discovered the disease could be treated with low-dose anabolic steroids. This treatment has helped her father, but isn’t suitable for women or children because of the side effects of the steroids.
Though diagnosed at 4, Williams remained symptom-free until 13. Dr. Richard Gower, allergist and immunologist at Marycliff Allergy Specialists in Spokane, said, “Females have the worse end of (HAE). They have more frequent attacks due to hormonal changes.”
Williams described the genesis of an attack. “I feel really fatigued and lethargic. I get a rash on the inside of my wrists that moves up my arm and around my neck.”
Her attacks often occur in her stomach. “It feels like someone’s twisting and pulling your internal organs. It’s very painful and you vomit uncontrollably.”
While growing up in Portland, she didn’t want to tell her classmates about her condition. “She said, ‘I didn’t want to be known as the ‘sick girl.’ ”
In fact, she considers herself one of the luckiest people with the disease. “I was part of the first study to get a drug approved in the U.S.”
Currently, four drugs have been FDA approved to treat HAE. These drugs are not a cure – they simply make the symptoms of the disease more manageable. Until recently, patients had to receive IV treatments at a medical facility.
When Williams moved to Spokane to attend college her condition worsened.
“Triggers vary from patient to patient and can include colds, infections, some medications, trauma and stress,” said Gower, who treats Williams and 24 other patients with the disease.
Williams’ trigger is stress.
She described a particularly horrific attack during finals week of her freshman year. “I woke up throwing up uncontrollably. I tried to get up but could barely move because my knees and feet were so badly swollen. My hands were so swollen I couldn’t grab anything.”
Williams managed to call Gower’s office to tell them she was coming in and then called a cab.
“I literally dragged myself to the taxi,” she said. She is forever grateful for the kind cab driver who got out and helped her to the door.
And that wasn’t her worst experience with HAE.
“Last summer I woke up and my throat hurt,” she said. “I went back to sleep which is the worst thing someone with HAE can do.” When she woke again, she couldn’t breathe – her larynx was swelling shut.
Thankfully, a new drug for acute attacks was recently approved. Williams was able to inject herself and avert disaster.
Despite living with this challenging condition, Williams remains optimistic. Her family history enabled her to be diagnosed before having an attack.
Because the disease is so rare, Gower said it can take eight to nine years before a patient is diagnosed. He said, “Forty-two percent of people, who present the first time with upper respiratory symptoms, die.”
That’s because the symptoms resemble anaphylactic shock, and drugs for anaphylactic shock don’t work for HAE.
Lack of awareness is why Williams feels compelled to share her story. “Most doctors aren’t familiar with it, so many people go undiagnosed,” she said.
“This group of people has suffered greatly,” Gower said. “But life expectancy is much better than it was. Patients should be able to live a normal life.”
Williams is a junior majoring in business administration and works for a local marketing firm.
“I haven’t let HAE get in my way,” she said. “I could live in fear all the time, so I just try not to think about it.”
She has made one concession to the disease – Williams doesn’t want to have children.
“They say it’s a 50/50 chance my kids would get it, but looking at my family tree I’d say the odds are much higher. I wouldn’t want to put this on a child.”
On the Web: For more information about hereditary angioedema visit www.haea.org.