Twinmom, wife, and pediatric hematologist specializing in sickle cell disease. Social media

Beverly Ndukwu was diagnosed with sickle cell disease when she was two years old and living with her family in Brandon, Man. For years, she longed to find someone else who shared in her experience with the disease. Then when Beverly was 14, her little sister Andrea was born, and she had sickle cell too. But one morning in November 2007, she woke up with flu-like symptoms. By the next evening she was gone. Watching Andrea suffer with sickle cell disease changed things for Beverly. Later she was introduced to the Sickle Cell Disease Association of Canada. That was where Beverly found the community she'd always longed to find. Beverly then co-founded the Sickle Cell Association of B.C. and started advocating for education around the disease. Beverly started an organization called the Sickle Circle of Manitoba to raise awareness and build community for Manitobans living with the disease. Beverly is now actively involved in working for people with sickle cell disease. Related story

Hassenfeld Children’s Hospital at NYU Langone is one of the most advanced pediatric hospital in New York. Experts at the hospital provide family-centered, comprehensive care for children with sickle cell disease. This inherited blood disorder can cause painful episodes due to reduced blood flow to the limbs and organs and other potentially serious complications. A team of experts—including blood, brain, and lung specialists as well as genetic counselors, physical and occupational therapists, social workers, and psychologists—cares for children with sickle cell disease and their families. They work together to ensure that your child’s immediate and long-term needs are met, every step of the way, throughout childhood and beyond. Official website

In 2010, the Foundation for Women & Girls with Blood Disorders (FWGBD), a non-profit 501(c)3 organization, was launched to serve as a single site, single source where physicians and healthcare providers can obtain information. Provider education, across disciplines, will be the focus of the Foundation. We will benefit women and girls by educating their providers. The Foundation is dedicated to achieving correct diagnosis and treatment of blood disorders and accompanying reproductive problems in women and girls with von Willebrand disease (VWD), other factor deficiencies, thrombophilias, sickle cell disease (SCD), hemoglobinopathies, immune thrombocytopenic purpura (ITP) and anemias. FWGBD is an innovative organization that will build the education resource base in these important areas. The Foundation is a partner of THSNA - the Thrombosis & Hemostasis Societies of North America. Official website

Etta Pete is Executive Director at Southwest Louisiana Sickle Cell Anemia, Inc. which is a nonprofit organization in Lake Charles, Louisiana. She studied at Southern University, McNeese State and was previously a teacher at Calcasieu Parish School Board. She is actively working to enhance the quality of life for persons with sickle cell disease, their families, and the community through education, networking, guidance, and referral of needs to support services. Her organisation works towards ensuring a network of committed partners and informed volunteers dedicated to promoting a healthy lifestyle for individuals affected with sickle cell disease. Online profile

Dr Marina Jerebtsova is an assistant professor of microbiology at Howard University. She is actively involved in research in the field of sickle cell disease and HIV/AIDS. Dr Jerebtsova's research focuses on the effect of Sickle cell disease on the kidney and various biomarkers associated with it, chronic kidney disease in sickle cell anemia, and interrelationships between HIV infection and sickle cell disease. She is mainly involved in research on HIV associated nephropathy. Current HIV/AIDS Research Activities: • Development of novel model to study glomerular permeability factors in the urine from patients with HIV-1 associated nephropathy (HIVAN) • Investigation of secretome in the glomerular epithelial cells from HIVAN patients • The role of tubular iron accumulation in the development of HIVAN in the HIV-Tg mouse model • Development of HIV-1 restricted macrophages from genetically modify iPSC   Representative Publications: RON kinase inhibition reduces renal endothelial injury in sickle cell disease mice Identification of ceruloplasmin as a biomarker of chronic kidney disease in urine of sickle cell disease patients by proteomic analysis Increased iron export by ferroportin induces restriction of HIV-1 infection in sickle cell disease Online profile

Objectives: To develop patient-reported experience measure surveys for patients with sickle cell disease (SCD) to understand their healthcare and lived experience in the UK and for their use in future to inform healthcare service development. Design: Picker methodology was used as follows: (1) qualitative scoping by focus group discussions; (2) questionnaire development through stakeholder consultations; (3) construct validation of questionnaires through cognitive testing; and (4) further assessment of construct validity by a nationwide pilot survey. Setting: Patients with SCD and their carers were eligible. Focus group discussions took place in non-hospital settings, arranged out of hours. Cognitive testing took place in specialist sickle cell clinics. The pilot survey was available to UK participants only and was administered through web-based questionnaires, face-to face completion and in sickle cell community events. Participants: Thirty-three patients and carers took part in the focus groups, 21 participants undertook cognitive testing and 722 respondents completed the pilot survey. Results: Findings highlighted a widespread prevalence of poor knowledge about SCD among healthcare providers and the public. Poorer experience of care was present in the emergency setting compared with planned care, of which lack of timely provision of pain relief was of concern. Adolescents and young people reported significantly poorer experience of care in several domains compared with children or adults. Conclusions: The new surveys functioned well, with good evidence of validity, and were accessible to the SCD patient population, supporting their future use in assessing patient experience to inform service delivery and improvements in care quality. Abstract source Full text

Background: Sickle cell anaemia (SCA) is prevalent in sub-Saharan Africa, with high risk of complications requiring emergency care. There is limited information about presentation of patients with SCA to hospitals for emergency care. We describe the clinical presentation, resource utilization, and outcomes of SCA patients presenting to the emergency department (ED) at Muhimbili National Hospital (MNH) in Dar es Salaam, Tanzania. Methods: This was a prospective cohort study of consecutive patients with SCA presenting to ED between December 2014 and July 2015. Informed consent was obtained from all patients or patients' proxies prior to being enrolled in the study. A standardized case report form was used to record study information, including demographics, relevant clinical characteristics and overall patients outcomes. Categorical variables were compared with chi-square test or Fisher's exact test; continuous variables were compared with two-sample t-test or Mann-Whitney U-test. Results: We enrolled 752 (2.7%) people with SCA from 28,322 patients who presented to the MNH-ED. The median age was 14 years (Interquartile range [IQR]: 6-23 years), and 395 (52.8%) were female. Pain 614 (81.6%), fever 289 (38.4%) were the most frequent presenting complaint. Patients with fever, hypoxia, altered mental status and bradycardia had statistically significant relative risk of mortality of 10.4, 153, 50 and 12.1 (p < 0.0001) respectively, compared to patients with normal vitals. Overall, 656 (87.2%) patients received Complete Blood Cell counts test, of these 342 (52.1%) had severe anaemia (haemoglobin < 7 g/dl), and a 30.3 (p = 0.02) relative risk of relative risk of mortality compare to patients with higher haemoglobin. Patients who had malaria, elevated renal function test and hypoglycemia, had relative risk of mortality of 22.9, 10.4 and 45.2 (p < 0.0001) respectively, compared to patient with normal values. Most 534 (71.0%) patients were hospitalized for in patients care, and the overall morality rate was 16 (2.1%). Conclusions: We described the clinical presentation, management, and outcomes of patients with SCA presenting to the largest public ED in Tanzania, as well as information on resource utilization. This information can inform development of treatment guidelines, clinical staff education, and clinical research aimed at optimizing care for SCA patients. Abstract source Full text

Sickle cell disease (SCD) is an inherited blood disorder that is present at birth. This means it is passed down through a parent’s genes. Children with SCD make an abnormal type of hemoglobin. This is the protein in red blood cells that carries oxygen to all parts of the body. With SCD, the body organs and tissues don’t get enough oxygen. Healthy red blood cells with normal hemoglobin are round and move easily all over the body. When a child has SCD, the red blood cells are hard and sticky. They are shaped like the letter C (and like a farm tool called a sickle). These damaged red blood cells (sickle cells) clump together. They can’t move easily through the blood vessels. They get stuck in small blood vessels and block blood flow. This blockage can cause pain. It can also damage major organs.   Abstract source

Background: Approximately 100,000 persons with sickle cell disease (SCD) live in the United States, including 15,000 in the Midwest. Unfortunately, many patients experience poor health outcomes due to limited access to primary care providers (PCPs) who are prepared to deliver evidence-based SCD care. Sickle Treatment and Outcomes Research in the Midwest (STORM) is a regional network established to improve care and outcomes for individuals with SCD living in Indiana, Illinois, Michigan, Minnesota, Ohio, and Wisconsin. Methods: STORM investigators hypothesized that Project ECHO® methodology could be replicated to create a low-cost, high-impact intervention to train PCPs in evidence-based care for pediatric and young adult patients with SCD in the Midwest, called STORM TeleECHO. This approach utilizes video technology for monthly telementoring clinics consisting of didactic and case-based presentations focused on the National Heart, Lung and Blood Institute (NHLBI) evidence-based guidelines for SCD. Results: Network leads in each of the STORM states assisted with developing the curriculum and are recruiting providers for monthly clinics. To assess STORM TeleECHO feasibility and acceptability, monthly attendance and satisfaction data are collected. Changes in self-reported knowledge, comfort, and practice patterns will be compared with pre-participation, and 6 and 12 months after participation. Conclusions: STORM TeleECHO has the potential to increase implementation of the NHLBI evidence-based guidelines, especially increased use of hydroxyurea, resulting in improvements in the quality of care and outcomes for children and young adults with SCD. This model could be replicated in other pediatric chronic illness conditions to improve PCP knowledge and confidence in delivering evidence-based care. Abstract source Full text