Patient Shares Journey with APDS on “The Balancing Act” Airing on Lifetime TV - by Kristie Cline
There’s strength in the stories of people living with rare diseases.
The struggles and victories described by these individuals can offer meaning and a sense of connection to fellow patients, who can often feel isolated by their diagnoses. Such stories can also help educate the larger community about little-known conditions, enabling a greater understanding of the experiences of underserved groups and, ultimately, improving the recognition of symptoms so that more patients can be accurately diagnosed.
As the leader of Patient Advocacy efforts at Pharming, these stories inspire me, and I’m proud to say that many of our company’s accomplishments have been driven by insights from individuals living with rare diseases. That’s why Pharming is proud to have partnered with Lifetime TV to facilitate an on-air interview with a patient about his experiences living with the rare immunodeficiency APDS, or activated PI3K delta syndrome.
The interview with Tyler aired on “The Balancing Act” as part of a series exploring rare genetic diseases. The series, Behind the Mystery, highlights the physical, emotional and medical aspects of these conditions through conversations with patients, families and advocates.
In the interview, Tyler recalls a childhood marked by frequent illness and a long medical journey to his diagnosis with APDS. Now that he’s receiving more personalized treatment, he describes looking forward to a brighter future.
Pharming is thankful for the opportunity to meet Tyler and his family and help him share his story with the Lifetime TV audience.
Watch Tyler’s full patient journey video below or CLICK HERE.
Read on for an excerpt between the conversation with Kristie Cline, Senior Director and Head of Patient Advocacy, and Tyler, an APDS patient, below:
Kristie Cline: What was life like for you, and can you describe the symptoms you experienced before you were diagnosed with APDS?
Tyler: When I was young, I didn’t really have a day where I wasn’t sick. Sometimes I’d be hospitalized a month at a time. I missed so many days of school and it was tough to get caught up on my schoolwork. Often, it was pneumonia getting so bad I could barely breathe properly. I had a massive amount of sinus infections, and I ended up having so many ear infections I had to have 20 sets of ear tubes put in. My liver and spleen both swelled up so big that they both went past my rib cage. I had lymph node growths on the side of my neck and face. Even in their normal state they would sit there the size of golf balls. Every night I would have to take 11 pills, and every morning I would have to take nine, and it was a constant reminder that I wasn’t able to live a normal life.
Kristie Cline: What was a turning point for you in your journey to find answers?
Tyler: A pivotal moment happened when I was 13. Our doctor referred my sister and I to NIH’s Undiagnosed Disease Program, and that’s when they started doing genetic testing to try to find the answers. The genetic test showed the genetic variant that caused APDS, and I was diagnosed with it. They then searched genetic records trying to find other cases. Ten other people were diagnosed, including my sister.
Kristie Cline: How did your life change after receiving an APDS diagnosis and starting treatment tailored to managing the symptoms of APDS?
Tyler: As my symptoms were more managed and I started to finally feel better, it gave me greater hope for the future. I now have started enjoying a lot of things I couldn’t before. I went from a couch potato to walking 5Ks and there was just this joy in the access to it, like just being able to go on a walk without having an asthma attack for that first time. I ended up going to college and started my career in game design. There’s a joy in being able to just try to figure things out now just like any other 20-year-old.