Treatment Advances and Patient Advocacy in Sickle Cell Disease: A Conversation with James Griffin

Sickle cell disease (SCD) refers to a group of inherited disorders that affect the shape and function of red blood cells. In sickle cell disease, instead of being round and flexible, red blood cells become rigid and shaped like a sickle or crescent. ¹

The abnormally shaped cells can block blood flow in small vessels, leading to episodes of pain, called pain crises or ‘sickle cell crises’. Sickle cell disease can also lead to other complications, including but not limited to: infections, chronic pain, strokes and chronic kidney disease. ^1,2

Sickle cell disease remains a significant global health challenge, affecting roughly 100,000 people in the United States and 8 million worldwide². In the U.S., the vast majority of those affected, over 90%, are non-Hispanic Black or African American.  Between 3% and 9% are Hispanic or Latino. ³

Historically, sickle cell disease treatment options were limited to supportive care such as blood transfusions and pain management. The past decade, however, has  seen rapid advances in therapy development. ⁴

Today, US patients have access to FDA approved disease-modifying drugs like hydroxyurea, L-glutamine, and crizanlizumab, which target different aspects of the disease.⁵ Blood transfusions remain a cornerstone for managing some acute complications, while bone marrow transplantation has been shown in some patients to offer long-term benefit.² The most transformative progress has come from gene therapies, including CRISPR-based interventions, which are now reaching clinical practice and can offer durable cures for some patients.⁴

Despite these advances, challenges persist in access, awareness and long-term outcomes. This makes patient advocacy and education more important than ever.

Diagnosis journey with sickle cell disease

John: Could you describe your experience in getting a diagnosis for sickle cell disease?

James: I was diagnosed at age 2. I was playing with my older siblings and my hand swelled up to the size of a baseball. My mother took me to the emergency room, where blood tests revealed sickle cell disease. This was in the 1980s, before newborn screening was introduced. Since 2006, newborn screening has been mandated in the US, so most patients are diagnosed at birth. Before that, people often discovered their condition through painful episodes.

Sickle cell treatment history and care

John: What treatments were available when you were diagnosed?

James: There were no FDA approved therapies available when I was diagnosed. Hydroxyurea wasn’t FDA approved for sickle cell disease until 1998 – that was the first real therapy. Before that, treatment in the US consisted of pain meds, IV fluids, and blood transfusions, which were my primary treatments as a child.

I remember getting my first blood transfusion at age 6. It provided immediate relief and re-energized me. For years as an adolescent, I hoped new therapies would come through, but nothing materialized for a long time.

The power of advocacy and raising awareness

John: How did you get involved in advocacy?

James: My advocacy began in my 20s after experiencing racial stigma in pursuing  care. I once waited over 5 hours in the emergency room while in severe pain. When I finally saw medical staff, they showed no compassion and told me “if you were really in pain, you would have come in sooner”.

The doctor wasn’t much better. I was given minimal medication and sent home in the same pain that I had I arrived with. I had to return to the hospital with my mother to be taken seriously and admitted.

This experience opened my eyes to the bias sickle cell disease patients face on the basis of our skin color. As a child, I always received compassionate care, but as an adult, I encountered stigma for the first time. This led me to write a book about living with sickle cell and start speaking out at age 28.

The challenge of invisible illness

James: Sickle cell is challenging because to the outside, we look completely normal despite being in excruciating internal pain. If someone came in to the hospital with a visible injury, like a severed arm, there would be no question about their need for care. But with sickle cell, we have to constantly explain and prove our pain.

There’s also racial bias at play. Presenting to the emergency room requesting strong opioid medications can fuel additional stigma around drug-seeking behavior, especially for the black and Hispanic populations that sickle cell disease predominantly affects in the U.S. I’ve also heard about situations where medical staff have doubted Hispanic patients who report having sickle cell disease. There’s a common misconception that sickle cell disease only affects African Americans, but that isn’t true.

Learning about new therapies

John: How do patients in your community learn about new treatments for sickle cell disease?

James:  The sickle cell disease community can learn a lot through different conventions and conferences, or through pharmaceutical reps that partner with nonprofit patient advocacy organizations. The reps pass out information on what treatments are in the pipeline and what clinical trials are available.

There’s also a lot being shared online in patient support groups and different networks. Often patients are the ones learning on their own and bringing this information to their doctor’s attention. The patient community has become quite empowered, and doctors sometimes learn about new treatments from us rather than the other way around.

Perspectives on gene therapy for sickle cell disease

John: How does the sickle cell community view gene therapy?

James: I think a lot of people are keeping an eye on it and hoping that it works for sickle cell patients, but I’d say overall there are mixed views. I think it represents the future of treatment for our community. However, a true cure for all patients is what we’re looking for.

Two gene therapies came to the U.S. market in 2023, but many people still don’t understand what gene therapy is or how it differs from gene editing. This is where continued education and advocacy comes in. We must continue to share information within the sickle cell disease community about potential treatment options and how they work. This will help patients become more involved with decisions about their care, and whether or not they would like to participate in research.

Insurance coverage is also a major concern with gene therapy because of its extremely high cost; the community needs payers to cover these potentially curative treatments so that patients don’t have to bear a huge financial burden.

What BioPharma can do to support the sickle cell community

John: What could BioPharma do better to engage with the sickle cell community?

James: I think BioPharma needs to continue to actively listen to patient needs, including understanding the social determinants that can affect access to their research. If you have trial sites that patients can’t get to easily, it just won’t work. This means addressing real barriers like transportation, lost wages, and family considerations which prevent patients from being able to participate.

I’m committed to showing up for advisory efforts with BioPharma, but also attending things like Capitol Hill days, where we can speak directly to stakeholders about our unmet needs and the critical importance of advancing therapies. Advisory boards should prioritize diverse patient voices to ensure that decision-making accurately reflects community needs. Ultimately, this should be a true team effort focused on solving the disease problem itself, rather than simply advancing individual company pipelines.

How healthcare providers can better support sickle cell patients

John: What changes would you like to see from healthcare providers?

James: I’d like to see healthcare providers better understand patient individuality, recognizing that everyone’s sickle cell experience is different. It’s crucial that they understand emergency room visits are a last resort for us – patients try everything at home before coming in.

Healthcare providers need to address unconscious bias through education and diverse workforce development, and they should bring patients to the table to share their stories with medical professionals. Most importantly, they need to acknowledge the reality of our pain and treat us to the best of their ability. We rely on healthcare professionals to help us when we can no longer help ourselves.

Key takeaways

• Sickle cell treatment options were virtually nonexistent until the late 1990s.
• Sickle cell diagnosis has improved dramatically over the years with newborn screening becoming mandatory in the US since 2006.
• The nature of an invisible illness presents unique challenges in healthcare settings.
• Racial bias and stigma around pain medication significantly impacts care quality.
• Patient empowerment and advocacy around sickle cell disease continues to grow substantially.
• Gene therapy is being researched and developed but faces access and coverage challenges.
• Collaborative approaches between patients, providers, and industry are essential.

This interview is published with the full knowledge and written consent of James Griffin, who has generously shared his personal experiences to help raise awareness and advocate for the sickle cell disease community.

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