At six months of age, Deidra Flowers-Williams was diagnosed with sickle cell disease (SCD). The next four decades of her life were a tale of emergency room visits and long hospital stays, framed by constant, debilitating pain. By 2015, prostrate with the pain, unable to walk from her bed to the bathroom, Flowers-Williams grasped firmly at a last straw: a National Institutes of Health (NIH) clinical trial testing the use of stem cells to cure sickle cell in adults. She was patient #43 in the trial. On September 9, 2015, she tweeted a picture (link is external) of herself undergoing a blood transfusion with the caption: “One day this will no longer be my life! #SickleCellAwareness.” Two months later, on November 19, that day came: She received an experimental stem cell transplant and is now free of SCD. Related story

Kirti Dasu was born in South East India and was diagnosed with SCD at 4 months old. His two younger siblings were also born with the disease. In 1988, knowledge of sickle cell was limited everywhere, but in Dasu’s community it was almost unheard of. His younger brother died of sickle cell complications at age 3. “[The doctors] didn’t know much, so they treated him the way they treated me, and it was fatal,” Dasu said. His family was poor and, because Dasu’s condition was acute, repeated visits to the hospital strained their meager resources. Often, the kindness of neighbors seemed to be an answer to his mother’s prayers, as she sat on the doorstep wondering how they’d make it to the hospital this time … and how they’d afford the treatment. Related story

It was not until their daughter was born five years ago with SCD that Tanielle Randall and her husband found out he was a carrier of the disease. Two years later, she would discover that her second child had the disease. But Randall quickly decided she had to “emotionally move past the fact that my children have this illness and start being proactive and the best parent I could be.” So she dug in, learning everything she could, and eventually joined the board of the Kids Conquering Sickle Cell Disease Foundation. Now, in addition to holding down a full-time job while caring for her daughters, Randall offers resources and advice to other families who are on a similar journey. Related story

When Marqus Valentine went to junior college, he serendipitously took a film class, fell in love with the medium, and decided to use it to document his daily struggles with SCD, which have been lifelong. He posted his musings online and eventually turned them into a mini-documentary. It was his way of honoring the many friends he’d lost to the illness—and it led to his co-founding, with his sister Ashley Valentine, of Sick Cells. It is an organization that encourages the sickle cell community to influence public policy and awareness by sharing their own stories. Marqus Valentine’s dedication has grown—he personally appeared before a Food and Drug Administration (FDA) panel to lobby for sickle cell drug development, and last year made a successful pitch for approval of the drug Endari (L-glutamine oral powder). Related story

Stuck on sickle cell disease? We hammer out the basics of diagnosis, common sickle cell variants and their manifestations, preventive medicine, acute and chronic pain management, opioid use, and how to recognize and treat common complications like anemia, fever and acute chest syndrome. There is no clinical/laboratory standard for confirming an acute sickle crisis. There are several variants of Sickle Cell Disease (SCD) with treatment differences. Electrophoresis can confirm the diagnosis. Hydroxyurea can decrease crisis frequency, acute chest syndrome (ACS) events, need for transfusions, hospitalizations, and death. Indications for chronic red blood cell transfusion include: failed hydroxyurea therapy, severe disease with genoptyes other than HbSS, or secondary stroke prevention. Related story

Recently, I went to a Sickle Cell user group meeting. I had never been to one and so did not know what to expect; well it was well attended by SCD patients, their partners, mothers, (a few mothers on behalf of their children); a variable mix. There were about six medical staff (hematology consultants, psychology doctor, critical nurse specialist, head of hematology). A good balance of them versus us. Now the reason why I am writing about my experience is because of my interaction with other people there. There was a lot of talk about: SCD and psychology; new drugs in their testing stages and therapies available, like gene therapy and the most interesting one was about self-management. Related story

We conducted a multicenter pilot investigation of the safety and feasibility of bone marrow transplantation (BMT) in adults with severe sickle cell disease (SCD) (NCT 01565616) using a reduced toxicity preparative regimen of busulfan (13.2 mg/kg), fludarabine (175 mg/m2 ) and thymoglobulin (6 mg/kg) and cyclosporine or tacrolimus and methotrexate for graft-vs-host disease (GVHD) prophylaxis. Twenty-two patients (median age 22 years; range 17-36) were enrolled at eight centers. Seventeen patients received marrow from an HLA-identical sibling donor and five patients received marrow from an 8/8 HLA-allele matched unrelated donor. Before BMT, patients had stroke, acute chest syndrome, recurrent pain events, were receiving regular red blood cell transfusions, or had an elevated tricuspid regurgitant jet (TRJ) velocity, which fulfilled eligibility criteria. Four patients developed grades II-III acute GVHD (18%) and six developed chronic GVHD (27%) that was moderate in two and severe in one patient. One patient died of intracranial hemorrhage and one of GVHD. Nineteen patients had stable donor chimerism, 1-year post-transplant. One patient who developed secondary graft failure survives disease-free after a second BMT. The one-year overall survival and event-free survival (EFS) are 91% (95% CI 68%-98%) and 86% (95% CI, 63%-95%), respectively, and 3-year EFS is 82%. Statistically significant improvements in the pain interference and physical function domains of health-related quality of life were observed. The study satisfied the primary endpoint of 1-year EFS >=70%. This regimen is being studied in a prospective clinical trial comparing HLA-matched donor BMT with standard of care in adults with severe SCD (NCT02766465). Abstract source Full text

Objectives: Pain is common in women with sickle cell disease (SCD), but the prevalence of dyspareunia in this unique patient population is unknown. In this study, we sought to determine whether chronic pain is associated with an increased prevalence of dyspareunia in premenopausal women with SCD.   Methods: A cross-sectional study of premenopausal women with SCD was systematically assessed for symptoms of dyspareunia and chronic pain using a standard questionnaire. These results were correlated with each subject's clinical pain phenotype determined by a review of the patient's electronic medical record.   Results: Ninety-one premenopausal women with SCD were examined. Thirty-two percent of the women reported dyspareunia. Women with dyspareunia were more likely to have a history of chronic pain (90% versus 61%, p = .006), report more pain days per week (median (interquartile range): 6 (4-7) vs. 3 (0-7), p = .005)), and had a higher oral morphine equivalent dose (145 (45-226) mg vs. 60 (9-160) mg, p = .030). Using a multivariable classification tree analysis, number of days of pain experienced per week was an important predictor of dyspareunia (p = .001).   Conclusion: Dyspareunia is common in women with SCD, and more common in women with SCD and chronic pain. Providers should assess women with SCD for dyspareunia, especially those with a chronic pain syndrome. Abstract source Full text

The aims of the current study were to investigate whether SCD incurs an additional risk for poor sleep over and above the influence of sociodemographic factors (ie, race and sex) during adolescence, and to explore the relationships between sociodemographic, physical (ie, age and pubertal status), and disease-related factors (ie, SCD genotype and hydroxyurea use) on sleep problem risk during adolescence. Black adolescents (age, 12 to 17 y) with SCD (n=53) were recruited from regional pediatric SCD clinics in the southeast and a sample of healthy black adolescents (n=160) were recruited from middle and high schools. Regression analyses indicated that SCD was uniquely related to sleeping more, and worse sleep quality over and above the influence of sociodemographic factors. Having a more severe SCD genotype was related to worse sleep quality and higher pubertal status was related to sleeping longer during the week. Results indicate the need for systematic assessments of sleep problems, with more a focus on youth with more severe genotypes and higher pubertal status. Future research should focus on characterizing trajectories of sleep problems in this population, identifying key risk factors, and elucidating mechanisms linking risk factors to sleep problem risk to aid in tailoring interventions for this population. Abstract source Full text