Role of Primary Care in Bridging Gaps in the Health Care System for Vulnerable Children in the United States of America: A Sickle Cell Disease Case Study

Abstract

Sickle cell disease (SCD) is a life-threatening condition. Given the nature of the disease and associated complications with high mortality and morbidity rates, it is imperative that patients are diagnosed in early infancy, are established with specialists and general pediatric care immediately, and receive continuity in care. A percentage of patients diagnosed with SCD fall within a vulnerable, at-risk population. This population may face greater social barriers that lead to missed or late diagnosis and therefore delayed management, significantly increasing the risk of morbidity and mortality. Screening tools such as state newborn screens help to identify the diagnosis early. However, patients in vulnerable, at-risk populations who are not established in the health care system may not receive timely communication about their illness and necessary next steps for care. We present a case of a 12-month-old female who is an example of one of the many patients who despite having undergone newborn screening, fell through the cracks due to social barriers including housing instability, food insecurity, and lack of access to transportation. This paper emphasizes the need for and provides a real example of the benefit of access to longitudinal primary care for vulnerable patients. We also demonstrate the role of primary care in clearing the care gaps and coordinating services quickly to ultimately prevent life-threatening complications specifically for children with previously undiagnosed chronic illnesses.

Background

As detailed by Sundd, Gladwin, and Novelli in their Pathophysiology of Sickle Cell Disease, sickle cell disease (SCD) is an inherited blood disorder characterized by a point mutation in the beta-globin chain called hemoglobin S. ¹ The most common genotypes include homozygous HbSS, or compound heterozygous states such as hemoglobin S-beta zero thalassemia, hemoglobin S-beta plus thalassemia, and hemoglobin SC disease. ¹

SCD affects the shape of red blood cells, causing them to become crescent- or “sickle”-shaped. These sickle-shaped red blood cells can get stuck in blood vessels, leading to a range of complications such as pain, infections, stroke, and organ damage. ¹ People who inherit only 1 copy of the sickle cell gene are carriers of the trait, also known as having sickle cell trait. ¹ Most people with sickle cell trait do not experience any symptoms and lead normal lives. However, they can still pass the sickle cell gene on to their children.

Sickle hemoglobin is less soluble than normal fetal or adult hemoglobin which leads to hemolytic anemia, microvascular vaso-occlusion, and eventually end-organ ischemia-reperfusion injury and infarction. ¹ SCD has clinical manifestations in every organ system in both acute and chronic settings. Major acute complications include infections, severe anemia, and vaso-occlusive phenomena such as acute painful episodes, stroke, venous thromboembolism, and others. Examples of chronic complications include pain, anemia, impaired kidney function, pulmonary hypertension, hepatotoxicity, neurologic deficits, and decreased lifespan. ¹ Patients with SCD are also at risk of treatment-associated complications, such as those related to chronic iron transfusion and pain management with long-term opioid use.^2,3

Early diagnosis and close follow-up are crucial for managing SCD and preventing complications. Newborn screening is an important tool for early detection, as it can identify infants with SCD or sickle cell trait shortly after birth. ⁴ This allows for early intervention and monitoring to prevent or manage complications.

Regular medical care, including monitoring for complications and preventive measures such as vaccinations and prophylactic antibiotics, can help improve the quality of life and reduce the risk of morbidity and mortality in individuals with SCD. ⁵ Close follow-up with a specialist in SCD is recommended for those with the condition.

A 12-month-old African American female with a reported history of sickle cell trait presented to our general pediatric clinic to establish care. The patient’s past medical history was unremarkable except for sickle cell trait, which the family was told during her first pediatrician appointment at birth. Family history of sickle cell trait was present in the patient’s mother and siblings. She had 1 emergency room visit for acute viral illness; otherwise, no other hospital or emergency care visits occurred since birth. The patient had not seen a pediatrician since their first newborn visit and was reported by her mother to be under vaccinated, but the mother was unsure as to what extent and did not have any health care records to reference.

History

Upon further history, the family had a complex social situation. The family was homeless and had been moving from 1 shelter to the next, across multiple cities and states. The patient had been started on some solid food intake when it was available, but due to food insecurity, she was predominantly breastfed. The patient and her siblings were under the care of a single mother who for undisclosed reasons did not have a support network of family or friends. They had been without stable housing since the patient was born, initially fleeing their home state due to a natural disaster. Their mother had briefly found employment in another city when they were staying at a different shelter and was in the process of establishing the family with essential services. Tragically, the shelter in the city where the family was beginning to establish a more stable life unexpectedly burned down. This forced the family to use what little funds they had available to move to a different shelter in the city near where the authors’ clinic was located. The mother used this new shelter’s resources to search for pediatric clinics in the area that did not require health insurance and then presented to our clinic for care.

Physical Examination

Initial vitals included temperature of 99.1°F, heart rate of 130 beats per minute, and respiratory rate of 25 breaths per minute. Weight was 7.27 kg (0.0th percentile), length was 78 cm (44th percentile), and head circumference was 47 cm (80th percentile). Aside from the patient’s obviously malnourished state, the remaining physical examination was unremarkable.

Laboratory Tests

At this initial encounter, the patient received initial catch-up vaccinations, had initial blood samples drawn, and was instructed to follow-up in 1 week, as the family had no means to contact the clinic. Screening for anemia and lead showed hemoglobin 9.6 g/dL, red blood cell distribution width 22.7%, and mean corpuscular volume (MCV) 57.6 FL. Lead levels were in normal range <3 mg/dL. Iron studies showed iron 34 µg/dL, percent iron saturation 8%, total iron binding capacity 437 µg/dL, transferrin 312 mg/dL (Table 1). In the light of the significantly low MCV and history of sickle cell trait in family and patient, we contacted the newborn screening department from the patient’s home state.

Table 1.

Initial Versus 8 Month Follow-Up Blood Counts.

	Initial	8 month follow-up
Weight (kg)	7.27	9.5
Weight (percentile)	0.0	0.7
Hemoglobin (g/dL)	9.6	10.1
Red blood cell distribution width (%)	22.7	18.3
Mean corpuscular volume (FL)	57.6	62.1

After initial difficulties in obtaining the patient’s newborn screening records due to the patient’s mother not having any identification, the results were finally obtained almost 2 weeks later, and the patient was found to have sickle cell beta plus thalassemia and not the trait as was told to us by the mother. Medical records from the patient’s home state also indicated that the patient had only received 1 hepatitis B vaccine at birth and no vaccinations since then. Hemoglobin electrophoresis conducted at initial hematology appointment confirmed the diagnosis of sickle cell beta plus thalassemia (Hb A = 17.6, Hb A2 = 5.4, Hb F = 12.0, and Hb S = 65.0).

Treatment

As the mother was unaware about the diagnosis and thus was uninformed about appropriate preventative medicine practices for her child, over the next several visits and as a concerted effort between hematology and general pediatrics, significant discussion and counseling about the patient’s specific SCD phenotype and the expected effect over her lifetime was initiated and continues as a part of her holistic care. The patient was started on ferrous sulfate supplementation and penicillin prophylaxis, and additional SCD-specific preventive measures including additional vaccinations and planned antibiotic use before dental visits were discussed at length with the patient’s mother. The social work team also helped connect the family with vital resources including shelter and daycare.

Management and Follow-Up

In the 8 months following the patient’s initial presentation, her weight has increased to 9.5 kg (0.7th percentile), she has continued with her catch-up vaccinations as scheduled, and her mother is doing her best to ensure she takes her prophylactic iron and penicillin as prescribed, though complete compliance is difficult due to their previously discussed social barriers to health. Complete blood counts are improving with most recent hemoglobin 10.1 g/dL, red blood cell distribution width 19.4%, MCV 61.6 FL (Table 1). The patient and her family are still working to find stable housing and continue to stay at a local shelter.

Discussion

Given the numerous, severe sequelae of SCD, it is not surprising that screening for SCD in newborns is mandated in all 50 states. ⁶ These screenings have led to decreased morbidity and mortality for those with SCD via timely diagnosis, education, initiation of prophylaxis, and establishment with a specialized care team. ⁷ Housing instability is a large, ongoing problem in United states. ⁸ Families experiencing housing instability have limited access to both prenatal care and well-child visits. It is easy to imagine how such patients with positive newborn screens may slip through the cracks.^9,10

Social barriers leading to care gaps are a vast hurdle to providing appropriate care to vulnerable patients such as ours. SCD is largely a disease of individuals of African ancestry who often experience disproportionate socio-economic stressors such as housing, food, and transportation that all are social determinants of health and effect medical adherence. ¹¹ In the United States, parents will be contacted by their children’s physician or the hospital where their child was born if there is an abnormality on a newborn screen. ⁶ However, given that our patient’s family did not have access to a mobile phone and did not have a mailing address, this patient’s mother was unable to be reached at an earlier date to deliver the newborn screen results. Had the patient’s mother been aware of her daughter’s diagnosis and its implications on her lifelong health they may have presented to care sooner than described in this case.

The authors would like to note that while the patient and her family theoretically could have accessed other community-based health care resources before presenting to the authors’ clinic system and thus began the diagnosis and management process earlier in the patient’s life, there are numerous other barriers to care individuals experiencing homelessness face. Some of these barriers include having limited funds to address competing needs such as food, shelter, and transportation before being able to search for health care. ¹² Health care utilization for homeless youth is further made more difficult by a lack of pediatric-trained, primary care, homeless-care providers, lack of knowledge regarding navigating and using the health care system, and distrust of health care providers by homeless families.^13,14 As many patients experiencing homelessness and other difficult social situations lack a source of primary care, they instead often rely on acute and emergency services for health maintenance and therefore have significant gaps in standard preventative care measures.^15,16 However, when vulnerable patients are able to find a longitudinal medical home and have resources to assist them in navigating the healthcare system, they experience increased likelihood of having anticipatory guidance provided, reduced healthcare disparities, and improved long-term health-related outcomes.^{12,17 -19}

The authors recognize that there are significant, systemic barriers that require multi-faceted solutions in order to establish this patient population in a medical home. A more immediate intervention to be considered is the implementation of a universal health care record that can be accessed by health care providers across state lines to avoid misses such as those described in this case and to better support continuity of care for these patients. This eventually will help to improve health outcomes and reduce health care disparities for vulnerable populations. Examples may include electronic health records that can be accessed by health care providers across different states or regions, as well as tools that allow individuals to access their own medical records and share it with their health care providers.

Ideally, once a newborn screen identifying a potential SCD diagnosis is confirmed, a patient’s family would be immediately connected to a comprehensive SCD center. This is important not only for imperative preventative care measures for SCD patients such as additional vaccines and penicillin prophylaxis, but also because undetected signs of SCD sequalae can start in early childhood and may not be recognized by most caregivers, such as silent cerebral infarcts that affect cognition and school functioning. ⁵

Despite a late diagnosis, unvaccinated status, and no penicillin prophylaxis for the first 12 months of life, our patient did not have any major complications at the time of diagnosis. Once the diagnosis was identified, we were able to quickly coordinate with the appropriate specialists and provide the necessary medical care and counseling in addition to helping the family navigate the medical system in the context of their difficult social situation.

Conclusion

This case emphasizes how primary care providers can play a role in bridging care gaps and overcoming social barriers. Once established with a medical home, primary care providers act as advocates for their patients and help connect them with necessary resources and services, such as housing assistance, transportation assistance, and social support services. They can also provide education and support to help patients manage chronic health conditions, such as SCD, which can be especially challenging for those experiencing social barriers.