Randall Simmons – PI3K-delta syndrome Patient Story

UPMC Children’s team follows clues to treat young man’s mystery illness 

Randall Simmons was a complex puzzle missing one crucial piece. He spent his childhood in hospitals, sick with constant infections, submitting to arm and stomach injections for medications that barely kept his immunodeficiency in check.

“From the age of 1 to 6 everything was kind of normal. Once 7 came it was like there was a switch inside me that got flipped that made my life go downhill,” says Randall, now 23. “Most of my childhood was spent in a hospital bed. I never really had a childhood.”

But life has changed for the better, thanks to a newly discovered medical condition, dedicated doctors, and access to a drug trial with amazing results.

It’s the patient story that ignites the most passion for Hey Chong, MD, PhD, chief of the newly created Division of Allergy and Immunology at UPMC Children’s Hospital of Pittsburgh. “It just warms my heart to see how happy he is and to see what an impact this new treatment has had on his life,” she says.

The new division is designed to increase the focus on UPMC Children’s Hospital’s unique capabilities and expand in-demand services for children, adolescents, and young adults to treat immunodeficiencies, asthma, and all types of allergies, including skin, food, drug, and seasonal. The Primary Immunodeficiency Clinic — in collaboration with the hospital’s Center for Rare Disease Therapy — manages patients like Randall with dysregulated immune systems. It’s here, under the care of Dr. Chong, that he finally found the relief he’d waited for all his life.

Battling the unknown

“He used to cough up phlegm every day. He couldn’t talk in complete sentences without getting out of breath. He had to inject himself with immunoglobulin every week in the abdomen. His spleen started growing. He had anemia and damage to his lungs,” says Dr. Chong. “He had multiple tests and for years people didn’t really know what he had.”

Although UPMC Children’s complete approach to care built a team of talented immunologists, hematologists, pulmonologists, and other specialists for Randall, doctors didn’t know the cause of his symptoms because his rare condition was unknown in medical literature.

The experience has been daunting for Randall, his parents, and two brothers, although none of his family members have signs of the genetic condition.

“It’s been an eye-opener for all the stuff he’s gone through,” says his mother, Lea Ann Simmons.

At the onset, he had multiple bouts of pneumonia that landed him in the Intensive Care Unit at Punxsutawney Area Hospital near his home in Big Run, Pennsylvania. A life-threatening scare sent him to UPMC Children’s via helicopter in 2001.

“He’s had all kinds of stuff done to him. We didn’t know. We had no clue. When he was taken by helicopter to Pittsburgh, we didn’t even know if he was going to make it home or not. That’s how bad it was,” Lea Ann says.

“They were treating him for a whole spectrum of stuff because they didn’t know what was wrong with him,” adds his father, Anthony Simmons.

Something caused his body to produce abnormal immune system cells that fail to fight bacteria and viruses. But what? 

Turning point

Dr. Chong started caring for Randall soon after she joined the staff at UPMC Children’s in 2011. Vigilant for a more precise treatment for Randall’s condition, Dr. Chong came across an article about a newly discovered disease published in the medical journal Nature Immunology in 2013 — the same year Randall graduated from high school. His diagnosis was confirmed following genetic testing in 2016.

“A lot of these diagnoses that we make wouldn’t be possible without our phenomenal genetics team and genetics counselors,” says Dr. Chong.

In the body, the PIK3CD gene provides instructions for making a protein subunit of the enzyme phosphatidylinositol 3-kinase (PI3K). The subunit, called PI3Kdelta, is specifically found in white blood cells, including immune system cells. Mutations in the PIK3CD gene can cause a form of immunodeficiency called activated PI3K-delta syndrome. Beginning in childhood, people with activated PI3K-delta syndrome develop recurrent infections, particularly in the lungs, sinuses, and ears, according to the U.S. National Library of Medicine.¹

Once Randall’s diagnosis was confirmed, Dr. Chong suggested a National Institutes of Health study for an experimental PI3Kdelta inhibitor drug. Randall began traveling to Bethesda, Maryland, for the study every three to six months, with follow-up care in between at UPMC Children’s. His injections were replaced with a red capsule two times a day.

He felt the effects right away.

“I feel like I took a life pill. I could breathe better and had more energy and I could just do more things,” Randall says. “I couldn’t put my finger on it. It felt weird, but at the same time it felt good.”

The encouraging results from all six participants in the first 12 weeks of the study were published in the November 2017 issue of the medical journal Blood. Randall continues to receive the medication as part of a study extension.

Before the study, he couldn’t carry on a conversation without coughing, but now he talks nonstop. He had to wear a plastic guard to protect his enlarged spleen, but now his spleen is shrinking. Moving around made him too tired to leave the house, but now he walks miles a day playing Pokemon Go on his mobile phone.

“I had to be real limited, but I’m not limited anymore,” says Randall. “I feel good now. I feel amazing.”

For Dr. Chong, “It’s about being able to treat someone better than we’ve ever been able to before.”

1 U.S. National Library of Medicine. Genetics Home Reference: Activated PI3K-delta syndrome. https://ghr.nlm.nih.gov/condition/activated-pi3k-delta-syndrome. Accessed July 10, 2018.

Contact Us

For more information, contact the Center for Rare Disease Therapy at UPMC Children's Hospital of Pittsburgh.