I am continually amazed at the strength of character and resilience of the most vulnerable among us. EM, born with pulmonary atresia, a ventricular septal defect, and coarctation of the aorta, has undergone three major cardiac surgeries with more planned, and thus, is still a "blue baby."
Born 4 weeks early, she weighed over 5 pounds, but failed to gain weight regularly. A gastrostomy tube was inserted when she was 2 months old because difficulty swallowing, malabsorption, and a weak gag reflex were contributing to poor growth. This eliminated the need for repeated insertions of a nasogastric tube for feeding. The only formula she could tolerate was very expensive.
At 6 months, two bulging inguinal hernias suddenly appeared and needed repair. She may have experienced a stroke in utero; later studies confirmed a diagnosis of partial hemiparesis cerebral palsy. Delayed skeletal growth on the left meant wearing braces on both legs to improve balance and walking. An eye abnormality, however, does not affect her vision. The absence of bile ducts in her liver causes severe jaundice and chronic itching, making her also a "yellow/green baby." Because of this, a liver transplant may be in her future.
She is extremely hypersensitive to external stimuli, causing unpredictable emotional outbursts. Not surprisingly, she is very attached to her mother and does not readily accept care from others, including nurses and other members of the healthcare team. Despite these physical and emotional challenges, she has a beautiful smile that lights up a room. In addition, she is a natural in front of the camera.
Alagille syndrome
EM is a 19-month-old who lives one day at a time with Alagille syndrome. I had never heard of this rare congenital disorder until a little angel with the condition was born into my extended family.
The incidence rate in the U.S. is less than 1 in every 100,000 live births. The primary means of transmission is autosomal dominant, and most babies are diagnosed during the first 2 years. Phenotypic expression falls along a spectrum with individuals having few to many associated manifestations. Life expectancy is variable, and some adults with mild Alagille can lead normal lives. Exact numbers of affected individuals is unknown, but Alagille is on the National Institutes of Health (NIH) Office of Rare Diseases Research (ORDR) list. However, it is exceptionally rare for a child to exhibit all the combinations of conditions that EM has with Alagille.
A message for nurses
Over time, family members caring for someone like EM become competent at maneuvering complicated medical equipment and learn indications, dosages, administration, and adverse reactions of potent medications that have a narrow index between therapy and toxicity, especially in small children. I asked EM's mother what message she had for nurses and others who might care for chronically ill children with rare disorders. She stressed that healthcare professionals should be sensitive to the complexities of the disorder in relationship to the child and recognize that there is no "cookie-cutter approach" to working with a child with special needs. She emphasized that the need for her to always explain EM's condition becomes exhausting, whether to a health professional unfamiliar with the disorder or to a curious woman at the supermarket.
This is a powerful message to all of us regardless of whether or not we regularly work with chronically ill children. How can we help caregivers like EM's mother thrive in caring for their children? I still wonder what makes the little ones, although weakened and fragile, so strong and resilient. I wish they could share their secrets with the rest of us.
Jamesetta Newland, PhD, RN, FNP-BC, FAANP, FNAP
[email protected]