Mother and son talk about their battle with hereditary angioedema

By Eliza Kruczynski

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    ELLINGTON, CT (WFSB) — A rare inherited disease isn’t stopping Carl Johnson of Ellington from living his life to the fullest.

He and his mother are glad tomorrow’s Denise D’Ascenzo Foundation Walk to Fight Rare Diseases is bringing more awareness to these life-threatening conditions.

Just like every other 11-year-old boy, Carl is fast on his feet and full of energy.

Most of his days are spent outside, playing with friends.

But he has something not many people have.

“Me and my mom have a rare disease called hereditary angioedema, also known as HAE,” Carl said.

HAE is a life-threatening blood disorder that causes cells to leak fluid under the skin, resulting in rapid swelling.

Carl has had three flareups since they started last July.

“One of them was on my eye, one was on my stomach. The stomach, I was really sick. I didn’t think I was going to live,” said Carl.

“They’re excruciatingly painful. It’s like childbirth and a kidney stone at the same time,” said Pamela Johnson, Carl’s mother. She also has HAE.

The flareups can be deadly.

“He had gotten hit in the head with a soccer ball. Most kids get a bump or a bruise. But ours will swell, the eye will swell, it’ll travel down the face. The mouth will swell, the tongue will swell, the throat will swell,” Pamela said.

One in three people who have HAE will die if the swelling makes it to their throat.

Anything can trigger it.

“It’s stress, it’s anxiety,” said Pamela. “It can be repetitive activities like using scissors, raking leaves, typing on a computer. Sitting on hot pavement.”

“For me, I just don’t let that stop me from doing my sports and doing what I like because my mom has medicine for me. If I do get an attack, so what, I have medicine,” Carl said.

The medicine is crucial in preventing and controlling the attacks but because HAE is so rare, access to treatment is expensive and challenging.

“Even though he started getting sick in July, I could not get insurance to approve it, get assistance in place and get actual medication in my hands until November,” said Pamela.

Awareness and advocacy only help, and that’s the goal of Saturday’s Walk to Fight Rare Diseases.

“These walks and everything really help spread awareness and sometimes hopefully bring the prices down of the medication so we can get it easier so we’re not suffering,” Carl said.

Carl isn’t letting HAE stop him from doing anything.

“All the kids out there, all the people out there with a rare disease, live life. Live your best life possible. Life is short and you want to live it all,” said Carl.

For information on the Denise D’Ascenzo Foundation’s Walk to Cure Rare Diseases, visit: thedenisefoundation.com

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