Moving Mountains for Hereditary Angioedema (HAE) Patients

Jun 23, 2020 | Patient Blog


Recently on our Rare Perspectives podcast, we had the distinct honor of having Tony Castaldo, president of the US Hereditary Angioedema Association (HAEA), a nonprofit patient advocacy organization, join us as our guest to discuss his journey with rare disease and chronic illness, and what he and others are doing to move mountains for patients diagnosed with HAE. 

About Tony Castaldo

Tony is a co-founder of HAE International (HAEi) and has been president since the organization’s inception. He also serves as the president of HAEA and on the Board of Directors for the National Organization for Rare Disorders (NORD). He dedicated much of his life to driving improvement in HAE care and remains highly motivated by the challenge of global HAE advocacy.

What Is HAE?

Hereditary Angioedema is a very rare and potentially life-threatening genetic condition. HAE patients have a defect in the gene that controls a blood protein called C1 Inhibitor. The genetic defect results in production of either inadequate or non-functioning C1-Inhibitor protein.

Normal C1-Inhibitor helps to regulate the complex biochemical interactions of blood-based systems involved in disease fighting, inflammatory response and 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 edema.

What Are Symptoms For HAE?

HAE symptoms include episodes of edema (swelling) in various body parts including the hands, feet, face and airway. In addition, patients often have bouts of excruciating abdominal pain, nausea and vomiting that is caused by swelling in the intestinal wall. Airway swelling is particularly dangerous and can lead to death by asphyxiation.

How Many People Are Affected By HAE?

Exact figures regarding the incidence of HAE are not available. It is estimated that about 1 in 10,000 to 1 in 50,000 people are affected worldwide.

Rare Perspectives: A Conversation With Tony Castaldo (excerpt)

Tony: I contacted a bunch of the doctors that I knew and they said, “Tony, you know, we don’t have any experience with this. We wouldn’t know how to begin treating a child.” Meanwhile,  I’m looking at this beautiful precious fiber world (my daughter), just looking at me saying, “Daddy, I’m sick.”

I didn’t feel like I had anywhere to go, and when the scientist said, “No, we don’t have any experience with this and we wouldn’t know what to do,” it seemed like a dead end. I just said, “I’ve got to do something,” and there’s nothing more motivated than a parent. My story in the rare disease world Is not unusual. Look at most of the rare disease conditions. It was a concerned parent who decided to do something. So mine is nothing unique. But, I think motivated parents can move mountains, and when I saw what was happening to my child, I just said, “You know what, I’ve got to do something.”

Listen To Tony Castaldo On Rare Perspectives

You can listen to our entire Rare Perspectives podcast conversation with Tony on Apple Podcasts or Spotify. Be sure to leave a comment, write a review and share with your network. Together, we are making a difference.

Listen on Apple Podcasts here: 

Listen on Spotify here:

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