Living with chronic illness — for many — can mean a lifetime of stress, trials and tribulations.
On the Health Economics and Outcomes Research (HEOR) team, we strive to understand patient communities through conducting research with both quantitative and qualitative data. We want to provide context beyond the numbers.
As a part of our in-depth, interview-based research into the lived experiences and daily impacts of living with serious illnesses — we spoke with people living with sickle cell disease (SCD) and transfusion-dependent beta thalassemia (TDT) — two genetic diseases in which Vertex continues to investigate. Below, you'll find some of their firsthand experiences.
Debilitating chronic pain, daily fatigue and unplanned disruptions — those are just a few examples of what people living with these diseases can face 365 days a year. “It’s a lot of trauma, you know, from a young age just being in the hospital seeing this and that and growing up trying to juggle between a lot of stuff in life and [on] top of this your health, like it gets very overwhelming, very stressful,” said one interviewee living with TDT.
Transfusion-dependent beta thalassemia: It never goes away
What’s it like to live with TDT?
“On a typical day, waking up in the morning my entire being, it just feels tired. And your pain, you’ve got pain everywhere,” said one person living with TDT. “So you're never really 100%. You have aches and pains that are constant, but it’s part of your being. So some days it affects you, some days you're not thinking about it. But there’s never a week where you can go by and say, ‘I’ve had a pain free week,’ it’s never happened.”
That pain trickles into every aspect of one’s life. From relationships to daily tasks like grocery shopping — people living with chronic illness can experience major anxiety over whether to share their condition for fear of being stigmatized. They also mourn what was and could have been.
“I was a social butterfly. I traveled to over 20 countries. I lived in Italy, I lived in Cyprus. You would find me from Cyprus to Lebanon to Egypt. That’s the kind of lifestyle I had in my twenties and thirties,” said a person diagnosed with TDT. “The osteoporosis the past five years has advanced so much and it’s given me so much pain. Just last year within a few months, October and December, I had two fractures. My collarbone and my fibula. I’m on now temporary disability until my fibula heals properly.”
Sickle cell disease: An uphill battle
People living with SCD can also face significant uphill battles. Immense exhaustion, neurological complications and chronic debilitating pain are just a few daily burdens that can impact one’s quality of life.
“I started work full-time, but I couldn’t stay at full-time because obviously I wasn’t well a lot of the time, so I had to reduce my workday to part-time, and then it just kept going down, down, down, because obviously I kept getting sick,” said one person living with SCD.
Work demands and deadlines are challenging enough — without adding on financial instability. “Right now, I am staying with my brother, but then everyone needs privacy. The time will come when I need to move out, I need to be by myself, but I can't afford that. I can't keep up with the rent, I can't keep up with the bills and everything.”
The stress doesn’t stop with finances — some people living with SCD have reported being treated like a second-class citizen while undergoing medical treatment. “I’ve had people say that they have to dress a certain way to be treated a certain way. Even in the middle of a crisis, fix your hair, put this on...When I first heard that, I thought it was the craziest thing I’ve ever heard. It makes a difference.”
Where do we go from here?
Part of working to develop potential therapies for people — means doing our absolute best to understand their lived experience.
As the HEOR team looks to the future, we are encouraged that our research will help make a difference by sharing the voices of study participants at scientific congresses and peer reviewed journals – so those who are eager to change the status quo of TDT and SCD treatment have access to our findings. We also share our research with patient communities and advocate for incorporating the patient perspective in holistic value assessments of potentially transformative therapies.
Check out our other stories that will dive deeper into the HEOR team’s research, from career impacts of the disease to measured outcomes on health inequities.