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Rare Genetic Disorder Brings Families Together

San Diego, California (NAPSI) - While the bonds that unite families are usually associated  with positive events, such as weddings or holidays, those bonds can be more challenging  when entire families are impacted by a hereditary disease. Christie Hardin  knows this firsthand.

For years, she and more than 30 members of her extended  family have lived with hereditary angioedema,  or HAE, a rare genetic disorder that can  cause severe swelling in various body parts including the hands, feet, face,  gastrointestinal tract and airway. But now, on-demand treatments are helping  generations of families affected by HAE take more control of their lives.

Living with the Disease

“As a child, I could remember my mother having swelling attacks in  just a matter of minutes and my brothers would miss school due to painful  abdominal swelling that would leave them both bedridden for days,”   recalls Hardin. “It wasn’t until my teens, when I started  experiencing the same painful swelling, vomiting, nausea and limited  mobility, that I understood the severity of HAE.”

HAE affects an estimated 6,000 to 10,000 people in the United States,  and is caused by a genetically inherited deficiency of a protein in the blood  called C1-esterase inhibitor. Symptoms are often misdiagnosed as allergic  reactions, colitis and appendicitis. While inaccurate diagnoses result in  prescriptions for ineffective treatments and unnecessary exploratory medical  procedures, a single accurate diagnosis can often lead to answers for an  entire family suffering from the symptoms of HAE. Even with an accurate  diagnosis, patients like Hardin struggle to get their family members engaged  in learning more about and managing their condition while seeking appropriate  treatment options.

“Education and understanding are the foundation of managing any  condition,” said Hardin. “As an advocate for HAE awareness,  I’ve encouraged many patients, especially my family, to become their  own advocates.”

Treatment Options

On-demand treatment for HAE can decrease the duration of an attack from  days to less than an hour, providing patients and their physicians with the  option to develop an HAE treatment plan tailored to meet their unique needs.  Hardin—who, after receiving treatment, encouraged other family members  to work with their physicians to develop a treatment plan—credits these  new therapies with giving families like hers control of their lives again.  Patient assistance programs ensure that all eligible patients have access to  therapy.

“While HAE is a lifelong condition, thanks to the availability of  therapies, my entire family can now live their lives knowing these attacks  are treatable,” said Hardin.

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