Sarah Smith

"My family leads a normal life, but always in the background we know there could be a dangerous attack and that’s something you have to learn to live with."

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In the 1970s Sarah Smith left her home in the US and relocated to Spain. She married the man she had begun dating years earlier while studying abroad in Madrid and they started a family.

Shortly after settling in Spain, her father-in-law suffered a severe and fatal attack of swelling in his throat. Physicians could not identify his condition. Because Sarah's husband and sister-in-law also frequently experienced severe and painful swelling, the family set-out to find the cause.

After working with physicians in both Spain and the US, Sarah's husband and sister-in-law were diagnosed with Hereditary Angioedema also known as HAE.

HAE is a rare, life-threatening genetic disorder caused by an inherited deficiency of C1-inhibitor (C1-INH). Symptoms of HAE include episodes of edema or swelling in the hands and feet, the face, the abdomen and/or the larynx.

People who have abdominal attacks of HAE can experience episodes of severe pain, diarrhea, nausea, and vomiting caused by swelling of the intestinal wall. HAE attacks that involve the face can cause painful distortion and swelling, while attacks involving the larynx can result in airway closure, asphyxiation, and, if untreated, death.

Because the condition is hereditary, Sarah and her husband had their children tested, and the couple's three daughters were also diagnosed with HAE.

"I'm glad we knew what disorder they had growing up as some of the attacks could be extremely scary," Sarah said. "My family leads a normal life, but always in the background we know there could be a dangerous attack and that's something you have to learn to live with."

She added, "We've had the fortune to learn about treatment options that are available like C1-esterase inhibitor. My oldest and second oldest daughters have both used this therapy on-demand when an attack is happening."

Inspired by her family's experiences, Sarah has dedicated her life to helping people who are living with HAE. At the urging of several physicians, in 1998 Sarah and her family helped develop the Spanish Association for Hereditary Angioedema due to C1-Inhibitor Deficit (AEDAF). In addition to being a founding member of the organization, Sarah also serves as its President.

"I was very surprised at the number of people in our community that were affected by this rare disease," Sarah said. "The organization is made up of volunteers and we strive to be a resource and advocate for those impacted by HAE."

AEDAF has nearly 300 members (which include patients, families and physicians) and is dedicated to helping people who are living with HAE find a proper diagnosis and treatment.

"Receiving the appropriate information and support from the medical community really made a difference in helping my family manage HAE," Sarah said. "It's satisfying to be able to assist others who are experiencing what we went through."