September 12, 2024
This article originally appeared in AABB News, a benefit of AABB membership. Join AABB today to read the rest of this month’s issue.
Life for Tesha Samuels, 42, before gene therapy was often riddled with debilitating pain that impacted her quality of life and emotional wellbeing. Diagnosed with sickle cell disease (SCD) at age two, Samuels endured many health complications throughout her youth—a life-threatening crisis at age seven, a minor stroke at 13 and acute chest syndrome at 16.
“Doctors put me in a month-long induced coma because of the severe pain,” Samuels told AABB News. “I had to relearn how to walk and bathe myself again. That’s difficult for a 16-year-old who’s supposed to be gearing up for life’s best. I was just fighting to live and make it to my next birthday.”
The battle intensified as she navigated life with SCD as a newlywed and adult. The sickle cell warrior reached a place of despair in 2016 when, at age 34, doctors mentioned severe organ failure (due to iron overload) and told her there was nothing else they could do. Samuels took matters into her own hands and became her own advocate. Through her research, she discovered a promising gene therapy clinical trial for SCD through the National Institute of Health (NIH). She enrolled in an autologous gene therapy transplant trial and received a transplant in March 2018.
Samuels, who had undergone more than 250 blood transfusions from age 13, said the gene therapy she received as part of the clinical trial changed everything. She described the process and recovery as grueling. However, four months after her transplant, the painful side effects of the chemotherapy treatment subsided, and her body was fueled with energy.
“I felt like I could run a marathon. I realized I didn’t have the usual pain or fatigue,” she said.
Literature cites mental health conditions, such as depression and anxiety, as significantly common among people with SCD. In addition, depression and anxiety have been shown to predict worse mental and physical health outcomes in this patient population, resulting in increased pain and disruptions. Psychosocial challenges facing patients with SCD include poor body image, behavioral/emotional problems, sleep disturbances, stigmatization, neurocognitive defi cits, peer bullying and a reduced quality of life.
Yvette C. Tanhehco, MD, PhD, MS, CABP, associate professor of pathology and cell biology at Columbia University Irving Medical Center/New York-Presbyterian Hospital, noted a strong correlation between reducing psychosocial distress and improving the quality of life for patients with SCD.
“In our field, there's a lot of discussion about gene therapies and drugs, but we're forgetting that for anyone to do well, they need to be well mentally, emotionally and psychologically,” stated Tanhehco, whose education session at the 2024 AABB Annual Meeting will focus on the role of psychosocial support and advocacy for patients with SCD. “Research shows that holistic care and addressing psychosocial challenges helps to improve patient outcomes, as well as support from family and friends,” she said. “SCD is a chronic illness, and as with any chronic illness, you need coping mechanisms and a social support network to help you manage the everyday struggles. Patients with SCD can't do it alone.”
Cecelia Valrie, PhD, associate professor of psychology and director of the Virginia Commonwealth University Health and Development Lab, echoed the same sentiment. “All the psychosocial aspects are strongly impacted by sickle cell symptoms, pain and frequent hospitalizations,” Valrie said. “One's emotional state and the support they have can help them recover faster in relation to physical symptoms, or it can make things worse. The physical, mental and emotional are so interconnected and linked to each other.”
Valrie’s research explores biopsychosocial factors that influence pain, sleep and adjustment in individuals with SCD. She noted that a loving and strong community can change the trajectory of a patient’s path even while facing the serious symptoms of SCD. A community can help raise you up, but it can also help build the pieces within you so that even when the community is not around, they are still with you, Valrie pointed out.
“As a kid, you just want to be a kid like everyone else, but sometimes SCD gets in the way of how often you’re in school because of hospitalizations. Children might feel different from their peers, which can lead to social and emotional issues such as depression or anxiety,” Valrie explained. To ignore the psychosocial and emotional aspects of this chronic disease is like ignoring and overlooking the person battling the disease, Valrie added.
“Seeing this patient population as solely a disease is a huge disservice,” Valrie pointed out. “I meet so many thriving pediatric and adult patients with SCD. They exemplify the definition of a warrior while fighting for their lives and their emotional health. They remain resilient in the face of challenge. They might get down for a while, but they pick themselves back up again. The strength of the sickle cell community is seen in that every day.”
Research shows that health-related stigma can lead to anxiety and depression, profoundly affecting patients’ physiological and psychosocial wellbeing and hindering adequate treatment. Racism and bias are cited as contributing factors, as Blacks comprise the majority of the U.S. patient population with SCD.
Yvette Miller, MD, ABIHM, American Red Cross executive medical officer for the Donor and Client Support Center in Charlotte, N.C., noted that stigmatizing beliefs about SCD inflict additional emotional stress and psychosocial trauma on a patient population that can have very little control over their disease or symptoms.
“Imagine being a patient with pain as the primary manifestation of your lifelong condition, and you go to a local hospital where you think people are going to meet your needs. Yet, you get denied access to treat your disease,” Miller said. “The medical care system has consistently failed them, and they are repeatedly stigmatized by a community that’s supposed to provide them with the best care. That's depressing and demoralizing.”
Miller’s number one advice to health care professionals: When a patient with SCD presents to an emergency room, believe what they tell you and treat them. Honor their story and their lives.
“We know that anxiety escalates pain, and these patients likely have a lot of anxiety before arriving to the emergency room, especially if they were mistreated and ignored during a previous visit,” Miller said. “That's why the psychosocial component of treatment for these patients must be addressed in a defined and deliberate way.”
Valrie added that some of her adult patients have faced medical mistreatment because no one took their pain seriously. “Health-related stigma combined with navigating a medical system that's not built for you can lead to increased amounts of hopelessness or depression,” Valrie said.
Samuels encourages more health care professionals to listen to their patients with SCD. “Many times, they want to define us by a broad stroke and the stigma that we're all the same and drug seeking,” Samuels said. “See us for the person we are. Try to understand our goals. Reach out to your network and provide a referral. Physicians should share resources and literature amongst one another to help patients and their families. We really need to rebuild the trust between the medical system and the Black and Brown community.”
Miller agreed. She expressed her passion for advocating for the sickle cell community and dismantling health disparities. “The medical community is just beginning to understand and acknowledge the unrelenting suffering of patients with SCD,” Miller told AABB News. “While it's certainly improving, the fear of not having access to the health care system to relieve suffering at any given moment is still a question mark for these patients. There's still a tremendous amount of stigmatization and marginalization. And that must weigh on them every single day.”
Samuels noted the mental transition after treatment challenged her. She credits her faith, strong support system and coping strategies, such as journaling, for keeping her grounded while navigating SCD pre-gene therapy and post-therapy.
“There were times I wanted to bang my head against a wall because you don't know what to do with all your feelings and emotions,” Samuels said. “I'm blessed to have a family and a faith-based community that supported me.”
Samuels emphasized the importance of building a community and prioritizing mental health. Whether it's family or a coworker, define your community and establish a support system, she advised.
“Mental health care is so important for sickle cell warriors, and it's becoming more accepting in the Black and Brown community,” she said. “Warriors are extremely resilient, but so often we feel alone. That loneliness is not a good place when you're in pain and your mind wanders to dark places. It’s important to focus on your mental health and spiritual well-being. Whatever that looks like to you.”
Samuels aims to close gaps in SCD treatment and raise awareness about holistic care through her organization: Journey to ExSCellence. “Some medical practitioners may not know how to treat our pain and provide us with services for mental and spiritual health. All those things come into play when taking care of sickle cell warriors because the disease affects so many things,” Samuels said. “We want to get that information to patients and caregivers and spread the word.”
Tanhehco noted that all SCD programs should provide holistic care and psychosocial support. “It's important to raise awareness so that our field doesn't just focus on medical therapies,” she said. “We should also explore improving the mental, emotional and psychological aspects to provide holistic care for the patient if we truly want to treat the entire patient and personalize their care.”
Valrie encourages providers to become their patients’ advocate and a true partner in their health care journey.
“I appreciate health care providers who advocate for their patients publicly and within their health care system. They also educate other providers and act as a pathway between various specialties that patients with SCD must navigate because the disease is so complex and requires coordination of care,” Valrie said.
The National Heart, Lung, and Blood Institute (NHLBI) Cure Sickle Cell Initiative (CureSCi) Patient Readiness and Resilience Working Group (PRRWG) recently developed a set of consensus recommendations and best practices for assessing psychosocial factors prior to gene therapy for SCD. Valrie, current co-chair of PRRWG, shared that the group is currently developing best practices and recommendations for SCD post-gene therapy to assess risk and protective factors that could influence a patient’s psychosocial well-being, self-care and health after gene therapy.
We need to explore how we can continue to provide psychosocial support that is needed on the other side of a transformative treatment, she added.
“With the recent approval of gene therapies, we're moving into a new age of SCD. As we start talking more about these transformative therapies, it is important we do not forget about the possibility of new psychosocial challenges and to be responsive if we want to provide the maximum support,” Valrie said.
Samuels understands firsthand the benefits of psychosocial support after gene therapy. She conceded she still grapples with her new normal post-transplant. “I really went through a period where I didn't know who I was without SCD because everything I had done had been tied so closely to my health. It felt like a grieving process as I tried figuring out my identity without the disease,” Samuels said. “It’s also a huge change for my caregivers as they discover how to fit into my world today. I’m figuring out my new norm, as they're figuring out theirs.”
Samuels also mentioned the weighted struggle of survivor’s guilt whenever she encounters a warrior facing a pain crisis. “I recently cried on the phone last week with someone because I know so intimately the pain and despair they're feeling,” she said. “I feel guilty for feeling as good as I do, especially when the warrior doesn’t qualify for a gene therapy trial.”
Despite these challenges, Samuels described her life today as an indescribable joy. “I didn't know I wasn't living life until I had the gene therapy transplant,” Samuels said. “I wake up every day thanking God I no longer need opioid medication just to function. Now I'm going after everything sickle cell tried to take from me, including my dreams, goals and ability to be a wife and daughter at my fullest potential. It’s an outstanding feeling I can't put into words.”
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