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Oct. 1, 2015

TOPIC: Patient Stories

From Mother to Daughter

Posted by Lisa Sencen

“Although this horrible rare disease has taken a lot of time away from normal life, my family and I are blessed for every breath, every smile, and every rainy day! We choose to get up, put our feet on the ground, and love life.”

Rhonda Avins-Powers knew from a young age that something was different about her body. She would become exhausted, and her doctor could not explain why. Frustrated, Powers stopped going to doctors’ offices and resolved to live her life without a diagnosis.

Many years later, after getting married, having three beautiful children, and starting a business with her husband, her youngest child began to have swelling in her feet and hands. Thinking it was an allergic reaction, Powers sought to get rid of all common household allergens like laundry detergent and milk. Still, Powers could not find shoes that would fit her daughter due to the severity of the swelling.

Rhonda 2 Desperate for answers, she drove her daughter hours away to an awarded children’s’ hospital. Instead of receiving a diagnosis, her symptoms were dismissed and Powers was investigated for abuse at home. Aggravated, Powers again stopped her search for answers.

It was not until Powers’ mother was explaining her granddaughter’s symptoms to a coworker that they had their first lead: Hereditary Angiodema (HAE). After calling a representative from the US Hereditary Angioedema Association (US HAEA), Powers finally found the answers she had been looking for since her own childhood. One small tube of blood and three short tests later, both Powers and her daughter were diagnosed with HAE.

HAE is a rare hereditary disorder characterized by recurrent accumulation of fluids outside of the blood vessels. This excess fluid causes blockages in the normal blood flow and rapid swelling of tissues, often in the hands, feet, limbs intestinal tract, and airway. The FDA has approved many drugs for the treatment of HAE. Learn more about the treatments here.

The Powers’ may never know where the hereditary disease began in their family lineage, but they are thankful for the diagnosis, medical treatment, and continued health.

Read more patient stories on NORD’s website and learn how to submit your own here.