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All in the family: patient’s hereditary disease comes full circle

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Susan Alger and daughter, Sonia, snorkeling in Hawaii.

Susan Alger will tell you that there’s power in knowledge.

For many years, she and family members on her mother’s side lived with a rare, undiagnosed disease. Unbeknownst to them, they all had the same condition.

Her grandfather suffered more than anyone. Not knowing what was wrong with him, he experienced severe depression and a lifetime of unexplained medical maladies that led to the removal of any and all organs he could possibly live without. Agonizing alongside him were devoted family members with their own unexplained symptoms.

But, before he died, Alger’s grandfather learned the truth – he was not crazy. There was a name for the rare disease that inflicted them all: Hereditary Angioedema, or HAE for short.

When Alger’s sister was finally diagnosed in college, they learned all they could about the rare, genetic condition they shared.

According to the U.S. Hereditary Angioedema Association (HAEA), this potentially life-threatening disease occurs in about 1 in 10,000 to 1 in 50,000 people. Symptoms include swelling in various body parts, including the hands, feet, face and airway.

Swimming with the turtles in Hawaii.

In addition, patients often have bouts of excruciating abdominal pain, nausea and vomiting, all caused by swelling in the intestinal wall. Airway swelling is particularly dangerous and can sometimes lead to death by asphyxiation.

Alger remembers times when her mother would be crawling around on the floor, writhing in pain, trying to take care of her family, while she and her sister suffered from their own symptoms, including facial and throat swelling and abdominal pain.

"My sister had her appendix removed when she was 14, and I was very sick on and off throughout high school," she says. HAE patients, they learned, have a defect in the gene that controls a blood protein called C1 inhibitor. This defect causes the production of either inadequate or non-functioning C1-inhibitor protein. That protein helps regulate complex biochemical interactions of blood-based systems that fight disease, inflammatory response and blood coagulation.

Because defective C1-inhibitor does not adequately perform its regulatory function, a biochemical imbalance can occur and produce unwanted peptides that induce the capillaries to release fluids into surrounding tissue, thereby causing swelling. A child has a 50 percent chance of inheriting the disease if one of his or her parents has it.

Skiing at Odell Lake near Willamette Pass, Oregon.

Having a child, however, would have been all but impossible for Alger and her husband had it not been for the help of Dr. Kraig Jacobson and access to a research drug through a clinical trial at Allergy & Asthma Research Group, the research arm of Oregon Allergy Associates.

"Without him, I would not be a mom," says Alger, who was referred to Dr. Jacobson by a friend after moving to Eugene in 1996.

"He was warm, approachable, and very willing to work with me. And you have to remember – I’m a high-maintenance patient, not the kind of patient most doctors are looking to take care of."

During her pregnancy, Alger took a C-1 inhibitor clinical trial drug that allowed her to carry her daughter full term, although, her pregnancy didn’t come without its ups and downs.

"When I was pregnant and on the trial, (Dr. Jacobson) treated me 24-7, whenever I needed him, even holidays. And when she was born, he was there, ready to treat me – well, when he wasn’t holding the camera," she says with a laugh. "His nurse, Judy, was there, too."

Susan and her family kayaking in Baja, Mexico.

Alger, who is now 44, says one of the greatest challenges of living with a chronic illness is acknowledging you have one. She takes all the necessary steps to maintain her health and has learned that symptom relief can be found in alternative therapies, such as focused breathing. For her, it’s about taking control, advocating for research and not being a victim of the disease.

In 2010, Alger traveled to Washington D.C., where she successfully lobbied for federal funds to research the disease. And earlier this year, she attended an HAEA conference and worked with children who have HAE, teaching them how to manage their anxiety through breathing techniques and dance therapy.

A trained dancer who spent two years with the National Dance Theater Co. of Jamaica and a former rafting guide, Alger enjoys life to the fullest. When she’s not working full-time as a medical services manager for PacificSource, she’s traveling with her family, kayaking and white water rafting, or scaling giant trees with her husband, Scott Altenhoff, a certified tree arborist employed by the City of Eugene.

Horseback riding in Mexico.

Funny and bright, their daughter, Sonia, is their little ballerina. At 9 years old, she is already learning to speak French, loves horses and wants to be a veterinarian someday. Sonia, like her mother, is also being treated for HAE. The frequency and severity of attacks varies dramatically among patients, and even among family members; onset symptoms often begin during puberty. Already, they have a plan of action in place at school for when Sonia experiences symptoms. "We have a really unique relationship with (Dr. Jacobson) because of this disorder," Alger says. "I consider him family, because without him, I wouldn’t have a family."

Independent and progressive, Oregon Allergy Associates provides comprehensive care for Allergy, Asthma and Immunology patients, and treats multiple associated diseases.