UpGrace

Healthcare continuously evolves. Clinicians have to be open to the constant changes that occur in different settings where care is rendered. Despite the constant changes, the crux of healthcare has always been the provision of quality, safe, holistic, and person-centered care. This is a story of a Neonatal Intensive Care Unit (NICU) baby who had multiple uncommon anomalies.

During her NICU orientation, the author had the opportunity to take care of a baby, B.J., who was born with multiple congenital anomalies. It was an interesting case, to say the least. Nevertheless, it was the constant interaction with the family that left an indelible mark on the writer. This short paper will discuss B.J.’s demographics. It will also include the nurse-patient relationship, the disease/condition overview, and the nursing processes utilized. It will end with the authors’ personal critique and reflection.

Patient Demographics

B.J. was delivered on August 7, 2019, via Cesarean section (CS) due to breech presentation and suspected multiple congenital anomalies. His birth weight of 2.115 kilograms was considered small for gestational age. It was at one percentile (1 %ile) for his 38- week age of gestation. His Apgar scores were six, seven, and eight for one, five, and 10 minutes after birth, respectively. He was admitted to the NICU due to intrauterine growth retardation (IUGR), respiratory distress, and right (R) humerus fracture. The fracture was due to difficult breech extraction. He also presented with ambiguous genitalia, possibly related to congenital adrenal hyperplasia (CAH) secondary to 21-hydroxylase deficiency. The mother received multiple genetic counseling prior to the delivery.

The baby’s mother is a 27-year-old who had been pregnant three times. She gave birth to premature six-year-old twin boys aside from B.J. All of her prenatal laboratory results were unremarkable except for her non-immunity to rubella and varicella. She is living with her boys in the United States. However, her husband is in Africa. Her mother and her brother are her main sources of support.

 Nurse-Patient Relationship

Although not the admitting nurse, the author was able to help with the initial resuscitative steps. Upon arrival in the NICU, the neonatologist immediately intubated B.J. and connected him to the ventilator. She also immobilized the right humerus fracture using a splint. The admitting nurse started the total parenteral nutrition (TPN) and intralipids. She infused them via the umbilical venous catheter. Another NICU nurse drew blood specimens via the umbilical arterial catheter and sent them to the laboratory. Then the NICU nurse administered the first dosage of intravenous (IV) antibiotics to prevent sepsis.

The Initial Encounter

The first encounter the author had with his mother was when she was updated regarding the baby’s status in the NICU. She was in the Mother-Baby unit recovering from her CS and she expressed not being able to understand English. The author had to utilize the iPad interpreter for Rohingya, an uncommonly spoken African dialect. The mom asked that her brother interprets for her via Facetime. The author emphasized that it was important to utilize accredited interpreters. This was to ensure that effective communication was facilitated between the two parties.

Mother-Infant Bonding

On B.J.’s second day of life, the author and her preceptor were his primary nurses. Initially, he was noted to be uncomfortable and was started on Fentanyl drip. The neonatologist updated his mother that he had been tolerating respiratory weaning protocol. Thus, he was disconnected from the ventilator, extubated, and switched to a high-flow nasal cannula (HFNC). He spontaneously adapted to the supplemental oxygen delivered via HFNC. The orthopedic doctor assured her that no surgery was necessary to fix his right humerus fracture. The pediatric surgeon assured the mom that she has a boy despite having ambiguous genitalia. The doctor, through an interpreter, informed her that his penis was buried between bilateral hydroceles and bilateral inguinal hernias.

B.J.’s mother tried to bond with him by doing skin-to-skin care whenever she can. His monitor leads, umbilical lines, orogastric tube, and oxygen HFNC made her feel uncomfortable touching him at first. She expressed fulfillment when she was able to hold him outside of his isolette for the very first time. She spoke and hummed a melody to him to keep him calm and comfortable.

Upon seeing that initial bonding opportunity, this author complimented her courage in facing all the challenges she continues to overcome ever since she was pregnant with B.J. This was when she opened up that during her prenatal check-ups, the clinic staff counseled her several times to have an elective abortion because B.J. will have so many health issues. She, however, stated that she has a very strong faith. She truly believed that she will not be given a situation that she cannot handle.

Baby’s NICU Milestones

This nurse took care of B.J. several times until his discharge on September 23, 2019. Throughout that period, he spontaneously breathe and tolerated gastric tube feedings. Splinting healed his right humerus fracture. His mother came daily and on the rare occasions that she wasn’t able to come, she religiously called to get an update regarding his care and condition. The face-to-face and phone encounters with B.J.’s mother fostered a trusting relationship between this author and her. She verbalized that she was comfortable leaving him in the NICU because the nurses showed her that they genuinely cared for him.

Disease Overview

While B.J. was diagnosed with multiple congenital anomalies in utero, the two things that were significant after birth were his CAH and corpus callosum dysgenesis (CCD) with the absence of callosal body and splenium. CAH is one of the most common forms of cortisol biosynthesis disorders in the adrenal cortex (Dorr, Penger, Albrecht, Marx, & Volkl, 2019). When the active gene CYP21A2 mutates, it causes impairment in 21-hydroxylase deficiency activity resulting in CAH (Dorr et al., 2019). CAH-suspected babies usually have higher birth weights and lengths, but both were untrue in B.J.’s case (Dorr et al., 2019).

Congenital Adrenal Hyperplasia

CAH is diagnosed via the state-mandated newborn screening (NBS) program. The CAH-specific goal of NBS is to diagnose infants early. Early diagnosis prevents acute adrenal insufficiency which may result in increased morbidity and mortality (Witchel, 2019). This may help allay the family’s anxiety regarding a genetic diagnosis, particularly if the baby is asymptomatic (Witchel, 2019). This is one of the reasons why B.J. had a referral to an outpatient endocrinologist for a follow-up appointment after discharge.

Corpus Callosum Dysgenesis

CCD is caused by maternal infectious diseases (e.g. toxoplasmosis, rubella, cytomegalovirus, and herpes [TORCH]), maternal vascular or metabolic disorders, or genetic factors that may disrupt the fetal callosal development (Manganaro et al., 2017). The corpus callosum is the central white matter that connects the left and the right hemispheres of the brain. Its disrupted development may result to genetic anomalies such as cortical development defects, cerebellar malformations, microcephaly, craniofacial and cardiac malformations (Byard, 2016; Manganaro et al., 2017). Fortunately for B.J., his eye exam revealed no optic nerve hypoplasia. However, nurses monitored him for seizures, developmental delay, and other signs and symptoms of central nervous system abnormality. These are some common features of CCD (Byard, 2016).

The neonatologist informed his mother that this may have something to do with her and B.J.’s dad being biological first cousins. Manganaro et al. (2017) included parental consanguinity as one of the risk factors associated with developing CCD. The obstetrician conducts genetic testing in utero during amniocentesis.  B.J. was referred for early intervention, physical therapy (PT), occupational therapy (OT), and speech therapy (ST) follow-up one month after discharge. A home health visiting nurse will visit him regularly post-discharge.

Nursing Process

Nursing Diagnosis: Ineffective Infant Feeding Pattern related to baby’s inability to tolerate oral feedings

Goal (G): B.J. will be able to tolerate oral/tube feedings without exhibiting signs and symptoms of intolerance such as vomiting, increased abdominal girth, and weight loss.

Assessment (A): Baby was unable to tolerate oral feedings. B.J. had a weak suck and an inability to coordinate sucking and swallowing. The patient was dependent on nasogastric (NG) tube feeding after TPN was discontinued.

Plan/Intervention (P/I): The nurses checked his daily weight. They monitored his intake and output every shift. Feedings were administered via NG tube. The pediatric surgeon surgically inserted a gastrostomy tube (GT) prior to discharge. The discharging nurse instructed his family on how to administer tube feedings to the baby. She also informed them on what to do when the G tube becomes dislodged. She instructed them about the importance of giving Ranitidine via G tube, as ordered. They were educated to monitor for signs and symptoms of feeding intolerance such as vomiting, increase in abdominal girth, respiratory difficulties, etc.

Evaluation (E): The family verbalized understanding regarding GT care and feeding administration at home. They were also able to return demonstrate checking the G tube patency, using the Kangaroo pump provided by the home health care staff, and administering the prescribed oral medications and feeding. After discharge, his mother reported that B.J. gained weight continuously and did not have any episodes of vomiting or respiratory distress.

Nursing Diagnosis: Impaired Physical Mobility related to the right humerus fracture

G: B.J. will be able to move his right arm spontaneously without manifesting any signs and symptoms of discomfort such as irritability, facial grimacing, and guarded position.

A: Limited movement noted to right arm due to humerus fracture. However, the nurses did not notice any discoloration in the affected extremity. They all confirmed good circulation in the distal pulses of the right arm and hand.

P/I: The orthopedic doctor examined patient. He immobilized the baby’s right arm using a splint. OT worked with the baby. She removed the splint two weeks prior to discharge. Follow-up appointments with ortho, OT, and PT were scheduled.

E: Baby was able to move his R arm better as compared to when he was born, but still with some limitations noted. The OT observed an on and off facial grimacing and guarded position when she exercised the affected arm. His mother verbalized understanding of the importance of bringing the baby to his scheduled follow-up appointments.

Nursing Diagnosis: Risk for Delayed Development due to congenital anomalies

G: B.J. will be able to meet his personally-set milestones despite his congenital anomalies-related issues.

A: The baby had a weak suck and poor suck-swallow coordination resulting in the utilization of an NG tube for oral feeding (Children’s National, n.d.). Poor muscle tone and coordination may be associated with CCD.

P/I: Family instructed that it is important to watch out for signs and symptoms of developmental delays such as visual, hearing, and cognitive impairment, delay in motor (e.g. sitting, walking, etc.) and language skills, and other difficulties such as attention deficit disorder and learning disabilities, among others (Children’s National, n.d.). The NICU staff reiterated the importance of keeping all the scheduled appointments with different specialties. This way providers may anticipate, mitigate, and manage problems in a timely manner.

E: His mother verbalized understanding of the instructions. She added that the family will pay close attention to the baby’s progress. She stated that she will notify the pediatrician of any untoward signs that she or the family observe on the baby.

Nursing Diagnosis: Risk for Impaired Communication related to B.J.’s mother’s inability to communicate in English comprehensively

G: B. J.’s mother will be able to express understanding of all the instructions given regarding the baby’s healthcare needs upon discharge and beyond.

A: His mother mainly speaks Rohingya despite understanding a little English.

P/I: The NICU staff utilized the iPad interpreter to update that family on the baby’s condition and discharge plans. His mom roomed in prior to discharge. She practiced taking care of the baby with the option to call the NICU nurses in case she needed help. The nurse discussed with her the discharge instructions using the Rohingya interpreter. B.J.’s uncle who spoke and understood English reiterated them.

E: She was able to verbalize understanding all the instructions given prior to discharge. She was also able to do a return demonstration of the care processes she needed to learn prior to discharge.

Nursing Diagnosis: Risk for Caregiver Role Strain related to family dynamics

G: The family will be able to effectively cope despite B. J.’s health concerns and expected developmental challenges.

A: B.J.’s mother was the primary caregiver of six-year-old twin boys and an infant with complicated care needs while her husband is in Africa. Her family, while they were very supportive, did not live with her.

P/I: Instructed her that she has to ask for support whenever she needs it. The staff taught her simple relaxation techniques such as meditation and praying. This was to help her overcome the daily, and often taxing, task of taking care of a baby with special needs. The nurse emphasized the importance of her taking care of herself so that she can be an effective caregiver to her sons. During the days when she wasn’t able to visit, the NICU staff used the iPad for Zoom visits.

E: She verbalized to this author that she continues to rely on her prayers as she believes that they will continue to sustain her in taking care of her kids just like they did throughout her pregnancy. She also said that she regularly meditates and tries to rest as much as she can.

Personal Critique and Reflection

Taking care of a patient with complicated needs, such as B.J., has allowed this author to appreciate the importance of providing safe, quality, holistic, and person-centered care for the patient and his entire family. Building a trusting relationship early on has facilitated open communication and mutual sharing between this nurse and his mother despite the language barrier. Being a nurse, in this particular case, did not necessarily mean doing something for the family, but most importantly, just being present and willing to listen to their concerns as they try to navigate the complicated course of B.J.’s recovery even beyond discharge.

The singular, most significant aspect of healthcare that the family acknowledged was the compassionate and kind nature of care provided for him in the NICU. His mother expressed her gratefulness that he received personalized care tailored according to his unique needs. She added that the NICU staff always made her feel at ease and that meant the world to her and her family.

Provision of Holistic and Person-centered Care

B.J.’s uncommon case highlights the importance of providing care that is both holistic and person-centered. Clinicians should anticipate and administer care that addresses the unique needs of every patient, and often, transcends the physical signs and symptoms manifested or even the medical diagnosis. Early involvement enabled the family to anticipate and prepare for their post-discharge responsibilities. Frequent and repetitive education may be necessary to adequately prepare the family for the baby’s post-discharge care needs.

As a popular African proverb goes: “It takes a village to raise a child.” This is undeniably true in B. J.’s special case. That village includes the NICU staff who effectively and seamlessly handed over the safe care of B. J. to his loving, yet anxious, family. Involving the family in his care during his NICU course slowly diminished that anxiety. It also ensured their readiness to facilitate B.J.’s continuous progress.

References

Byard, R. W. (2016). The corpus callosum and forensic issues – An overview. Journal of  Forensic Sciences, 61(4), 979-983. doi: 10.1111/1556-4029.13097

Children’s National. (n.d.). Pediatric agenesis of the corpus callosum. Retrieved from https://childrensnational.org/visit/conditions-and-treatments/fetal-      carepregnancy/agenesis-of-the-corpus-callosum

Dorr, H. G., Penger, T., Albrecht, A., Marx, M., & Volkl, T. M. K. (2019). Birth size in neonates with congenital adrenal hyperplasia due to 21-hydroxelase deficiency.

             Journal of Clinical Research in Pediatric Endocrinology, 11(1), 41-45. doi: 10.4274/jcrpe.galenos.2018.2018.0149

Manganaro, L., Bernardo, S., De Vito, C., Antonelli, A., Marchionni, E., Vinci, V.…& Pizzuti, A. (2017). Role of fetal MRI in the evaluation of isolated and non-isolated

corpus callosum dysgenesis: Results of a cross-sectional study. Prenatal Diagnosis, 37, 244-252. doi: 10.1002/pd.4990

Witchel, S. F. (2019). Newborn screening for congenital adrenal hyperplasia: beyond 17-hydroxyprogesterone concentrations. Jornal De Pediatria, 95(3), 257-259.

https://doi.org/10.1016/j.jped.2018.06.003