My Long Journey To Diagnosis: An HAE Story

May 15, 2018 | Patient Blog

“Finally, the medical world announced treatment by infusion. I was getting 2 vials every 3 days which freed me of the attacks completely.”

His name is Charles and he is one of between 10,000 and 50,000 people with Hereditary Angioedema. Charles has had HAE nearly his entire life. Sadly, it would take until adulthood for him to finally receive a diagnosis which would lead, albeit eventually, to the right treatment.

Thankfully, if it weren’t for a co-worker having a baby and handing out cigars, Charles might not have ever known.

What Is Hereditary Angioedema?

According to the U.S. National Library of Medicine, Hereditary angioedema is a disorder characterized by recurrent episodes of severe swelling (angioedema). The most common areas of the body to develop swelling are the limbs, face, intestinal tract, and airway. Minor trauma or stress may trigger an attack, but swelling often occurs without a known trigger. Episodes involving the intestinal tract cause severe abdominal pain, nausea, and vomiting. Swelling in the airway can restrict breathing and lead to life-threatening obstruction of the airway. About one-third of people with this condition develop a non-itchy rash called erythema marginatum during an attack.

What Are The General Symptoms Of HAE?

Symptoms of hereditary angioedema typically begin in childhood and worsen during puberty. On average, untreated individuals have an attack every 1 to 2 weeks, and most episodes last for about 3 to 4 days. The frequency and duration of attacks vary greatly among people with hereditary angioedema, even among people in the same family. Symptoms also include edema (swelling) in various parts of the body, including: hands, feet, face and airway (throat) and is hereditary. Children have a 50% chance of inheriting HAE if one of the parents has the disease.

Yet, for many, like Charles, the road to HAE diagnosis, which is hereditary, can be a long, discouraging and life-threatening journey.

Charles Shares His Story And Journey To HAE Diagnosis

I have had periodic terrible stomach sicknesses since the age of 2 1/2 years old. My mother also had the same thing. Her spells of sickness were about 10 days apart and mine were every 7 days.

Yet, nobody knew why.

When I reached puberty, my stomach spells suddenly went from every 7 days to every 10 or 11 days. Still not having any answers as to why, my parents sent me to a clinic when I was 8 years old for 11 days in hopes of diagnosing the problem.

Of course, I did not get sick while there.

However, the clinic determined that I was just throwing my spells to accomplish my aim. Yet, my mother, her father and sister, and one of my older brothers had this problem to some degree, they knew this was not the case.

Fast forward many years and after I had gotten married, my wife was determined to find an answer. So, she sent me to every kind of doctor she could in hopes of finally getting a diagnosis.

Doctors gave me upper and lower GIs, prescribed digestive enzymes, and even had my wife make me separate meals of soft food, etc. She was also told to have a calm quiet environment thinking it was attacks of nerves.

But, nothing helped.

One time when I was getting sick, my wife and I decided to have an upper GI. My doctor told us that we did not want to do that. But we pressed forward and had it done.

After 2 hours post x-rays, my doctor came running in the room saying “We finally found something wrong with you. Nothing left my stomach in 2 hours. So, they thought something was wrong with the exit to my stomach but that was a serious operation, so despite having found something, nothing was done for another year.

How A Co-Workers Baby Led To An HAE Diagnosis

One day, one of my co-works was celebrating the birth of his newborn baby and to celebrate, he gave me a cigar. But, after I began smoking the cigar, my throat started swelling up to the point of needing to get to the ER before my airway became so restricted that it would completely block my airway.

While in the ER, my doctor asked an immunologist to look at it and it was them that decided it looks like angioedema because of the glassy appearance. To confirm this, I was given a blood test which eventually confirmed that what I had been battling since childhood, was indeed angioedema.

For treatment, I was initially given pills that were supposed to impede the spread of swelling. Unfortunately, I was still getting sick, but to a slightly less degree. I was then given anabolic steroids. That really helped but didn’t free me from the attacks completely.

Finally, the medical world announced treatment by infusion. I was getting 2 vials every 3 days which freed me of the attacks completely.

Treatment for Hereditary Angioedema

The U.S. Hereditary Angioedema Association states on their website that HAE symptoms are not the same for every person, even within the same family. Therefore, patients must partner with an HAE treating specialist to create an individualized treatment plan that leads to a healthy life.

Hereditary Angioedema And Charitable Assistance Programs

For decades, PSI has led the way in pioneering charitable assistance programs so that thousands of patients like Charles can receive and afford the critical treatments needed to sustain their life and provide a hope that can paint a bright future.

James, who is another PSI patient with HAE had this to say about how charitable assistance programs like PSI has helped sustain his life,

“Without the Charitable Assistance Programs, I would have a higher risk of dying. I have been living with this disease for 74 years and the only quality of life that I have found is when I started receiving PSI charitable assistance and it allowed me to keep insurance and provide me with the high copays of the medicine that I require to sustain life. I would not be able to get these medications without PSI, therefore detrimental that we are able to receive copay and premium assistance.”

Have You Been Diagnosed With HAE?

If you or someone you know has been diagnosed with Hereditary Angioedema, you are not alone. You can learn more about how PSI and what we do by visiting our patients page and read about the various programs available for HAE based on your type of insurance.

Do You Have An HAE Story?

PSI is looking for stories from others who have been diagnosed with HAE. If you would like to share your story with us, and in by doing so, help others, you can send us your story by email to [email protected]

DYK That Health Care Charities (Like PSI) Are Under Threat?

You can learn more about why health care charities like PSI are under threat as well as what you can do by visiting our #LetCharitiesBeCharitable action page on our website here.

Read more PSI News

Give Back on Giving Tuesday 2020

Give Back on Giving Tuesday 2020

Patient Services Inc., the nation’s first patient assistance charity, is participating in Giving Tuesday 2020 this holiday season, a global day of generosity that brings people across the world...