Retinoblastoma is a rare and characteristically aggressive childhood cancer of the retina that is diagnosed in children younger than the age of 3 (Carter, 2009; Sacchetto, da Lustrosa & Miyuki, 2002). The retina is the layer of the eye that is sensitive to light and encodes and sends visual messages to the brain. Many of the processes of visual perception are produced as a result of this encoding and the processing of light into messages that can be interpreted by the brain into distinguishable images. Hence, the retina plays a central role in sight.
Retinoblastoma can occur in one eye or both eyes (Carter, 2009; Sacchetto, da Lustrosa & Miyuki, 2002). Its cause is a genetic defect and develops as a result of the rapid eye growth that takes place during the first few years of a child's life. Three hundred new cases of retinoblastoma develop each year in the United States, and one in 17,000 are affected. Forty percent of children with retinoblastoma have the congenital (hereditary) form of the disease, which places the child at a strongly increased risk for secondary cancers, and has been associated with excess mortality (Dommering et al., 2012).
The average age of a retinoblastoma diagnosis is eighteen months and is rarely found in children older than five (Sacchetto, da Lustrosa & Miyuki, 2002). For congenital retinoblastoma, children are usually diagnosed by age one. In congenital retinoblastoma, every cell in the body is missing one of the pair of retinoblastoma genes, which predisposes children to later cancers. This gene is a tumor suppressing gene that controls cell division. Without the normal pair of these genes, the body loses its ability to control cell division, and cells, specifically malignant cells can divide out of control. As a result, children with congenital retinoblastoma are likely to develop other cancers (Dommering et al., 2012).
Signs and Symptoms
One of the more common signs of retinoblastoma is leukocoria, which presents as a white pupil (Carter, 2009). Rather than reflecting off the retina, leukocoria is caused by light reflecting off the tumor in the eye. Sometimes the growth of the tumor can cause changes to the surface of the iris, which causes a change in the iris' color, called heterochromia (Carter, 2009). A misalignment of the eyes, similar to crossed eyes or wandering eyes, can take place as the tumor grows and interferes with the child's eyesight. As the child's eyesight degrades, the brain can no longer hold the eyes in their natural alignment, which may cause one or both of the eyes to drift inward or outward. Initially, the eye and eyelids can become inflamed or protrude from the eye socket, resembling an infection (Carter, 2009). This is the body's immune system mounting a defense against the malignancy. Other symptoms can include poor vision, which can be difficult to diagnose in young children, and pain (Carter, 2009; Dommering et al., 2012).
The treatment of retinoblastoma depends on the grade and stage of the tumor. The extent to which the tumor has invaded other areas of the eye, the lymph nodes, or other remote areas of the body determine the cancer's progression. With more progressed and invasive tumors, treatments are typically more complex over a longer period. Congenital retinoblastoma is a rare type of cancer that requires specialists for the unique needs and treatment options available. Usually general oncologists refer patients to major children's cancer centers that offer the best chance of recovery and preserving eyesight (American Cancer Society, 2014d).
Treatments include chemotherapy, cryotherapy, laser therapy, radiation, or enucleation, which is the removal of the eye (American Cancer Society, 2014d). When the disease has metastasized, doctor's may elect to treat the extensive cancer with stem cell transplantation (American Cancer Society, 2014e). Systemic chemotherapy is injected into a vein or given orally (American Cancer Society, 2014c). Periocular chemotherapy for advanced cancers are injected into the tissues surrounding the eye, and accomplished when the child is under general anesthetic. Intra-arterial chemotherapy is be injected directly into the ophthalmic artery, which supplies blood to the eye. This is usually done under general anesthesia every few weeks (American Cancer Society, 2014c).
Cryotherapy utilizes a small probe at freezing temperatures to kill the cancer cells by freezing them (American Cancer Society, 2014b). This type of therapy is most effective with small tumors at the front of the eye. It can cause damage to the retina and temporarily cause it to detach from the eyeball. Laser therapy utilizes infrared light to heat the tumor. It may be used in conjunction with chemotherapy or radiation therapy (American Cancer Society, 2014a).
Like the treatment options, which depend on the progression of the tumor, the prognosis for retinoblastoma depends on the grade and stage of the tumor as well. In congenital retinoblastoma, the gene mutation has an impact on immune functioning throughout the child's life, and has a prognosis of excessive mortality (Dommering et al., 2012). This cancer carries a less favorable prognosis since secondary cancers are common because of the genetic defect. Additional cancers return after an average of 10-13 years after the successful treatment of the initial cancer (Dommering et al., 2012).
Affects of Diagnosis on Children and Adolescents and Their Families
When a child or adolescent is given a cancer diagnosis, parents experience psychological crisis, which is ordinarily more severe than the child or adolescent's reaction to the diagnosis, especially if the child is young (Greening, & Stoppelbein, 2007; Norberg & Green, 2007; Stuber, 1995). Receiving a pediatric cancer diagnosis creates a sense of helplessness for parents because of its uncontrollable nature (Greening & Stoppelbein, 2007). It is one of the most traumatic events that a family can be forced to endure (Fletcher, 2011). Nine to forty percent of parents experience depression, posttraumatic stress disorder, and generalized anxiety disorder for up to three years after their child's diagnosis (Greening & Stoppelbein, 2007). Pediatric malignancies are perceived by parents as life-threatening even though there has been a dramatic increase in effective treatments and children's prognoses (Stuber, 1995). However, the diagnosis of childhood cancer is traumatic and perceived by parents as a life threat for their child. It is stressful for the patients, but equally or more traumatic for their families, especially the parents (Fletcher, 2011; Stuber, 1995).
Further, the child or adolescent patient may interactively respond to the parents' stress reactions to their child's diagnosis. In effect, children may interpret the danger and trauma of the diagnosis according to their mothers' responses. Stuber (1995) likened the psychological sequelae of pediatric cancer diagnoses to post traumatic stress in child and adolescent patients and their parents. The child or adolescent patient experiences anxiety similar to combat veterans, although it is the parents who are at a far greater risk of post traumatic stress (Stuber, 1995).
Affects of Treatment on Children and Adolescents and Their Families
The effects of treatment on the child or adolescent patient are numerable and have been associated with psychological and physiological effects (Gorin & McAuliffe, 2008; Mertens, et al., 2002; NCI, 2014). These effects can cause deficits in basic essential functions as well as secondary cancers, which are common and expected in congenital retinoblastoma. When the removal of the eye is involved, this has obvious implications for the child's eyesight. For children whose treatment is more complex or long-term, deficits in thought and learning processes may occur, which place them at risk for keeping pace with peers and classmates (Gorin & McAuliffe, 2008; NCI, 2014; O'Leary, Krailo, Anderson, & Reaman, 2008). Many children require special education and this can have a profound effect on children and their peer relationships (Gorin & McAuliffe, 2008).
Stuber (1995) found children did not necessarily appreciate the life-threatening aspect of cancer, but found treatment the more difficult component of the disease. Mothers serve as buffers for their children's treatment experience, although the psychological and physiological cost to mothers is significant (Stuber, 1995). The treatment of cancer involves contending with side effects, the limitations of maintaining a normal schedule, the disruption of social interactions and typical family roles. For example, older siblings may have to double as parents during times when parents must work or be available for other siblings or social events. "The increased burdens and stressors that accompany childhood cancer present formidable challenges for parent and family functioning" (Pai et al., 2007, p. 407).
Family conflicts, too, may occur because of the changing roles of families with a child or adolescent patient. Parents may have increased expectations of siblings because caring for the ill child is demanding and daunting for parents (Pai et al., 2007). This can cause conflict between siblings and between siblings and parents. Parents may feel an increased parenting burden, even after successful treatment has been completed (Norberg & Green, 2007). Often during cancer treatment, the relationship is strained between parents and healthy siblings, and they can become distant. Siblings may also exhibit socio-behavioral reactions, such as acting out, anger, fear, or clinginess (Norberg & Green, 2007).
Receiving a diagnosis for congenital retinoblastoma is a tragic and traumatic experience for families. Although medical science has increased the number of effective treatments and the rate of survival for diagnosed children, this disease has the potential to ravage families because of the psychological costs extorted from the patient and each family member. The initial diagnosis is perceived as a life threatening crisis, especially for the parents, and the ongoing treatment creates significant and sometimes insurmountable challenges that leave remnants of psychological stress for years.
American Cancer Society. (2014a). Thermotherapy for retinoblastoma. Retrieved March 22, 2014, from http://www.cancer.org/cancer/retinoblastoma/detailedguide/retinoblastoma-treating-thermotherapy
American Cancer Society. (2014b). Cryotherapy for retinoblastoma. Retrieved March 22, 2014, from http://www.cancer.org/cancer/retinoblastoma/detailedguide/retinoblastoma-treating-cryotherapy
American Cancer Society. (2014c). Chemotherapy for retinoblastoma. Retrieved March 22, 2014, from http://www.cancer.org/cancer/retinoblastoma/detailedguide/retinoblastoma-treating-chemotherapy
American Cancer Society. (2014d). How is retinoblastoma treated? Retrieved March 22, 2014, from http://www.cancer.org/cancer/retinoblastoma/detailedguide/retinoblastoma-treating-general-info
American Cancer Society. (2014e). High-dose chemotherapy and stem cell transplant for retinoblastoma. Retrieved March 22, 2014, from http://www.cancer.org/cancer/retinoblastoma/detailedguide/retinoblastoma-treating-high-dose-chemo-stem-cell
Carter, J. (2009). Recognizing the signs of retinoblastoma. Practice Nursing, 20(8), 394-397.
Dommering, C., Marees, T., van der Hout, A., Imhof, S., Meijers-Heijboer, H., Ringens, P., & ... Moll, A. (2012). RB1 mutations and second primary malignancies after hereditary retinoblastoma. Familial Cancer, 11(2), 225-233. doi:10.1007/s10689-011-9505-3
Fletcher, P. C. (2011). My Child has Cancer: Finding the Silver Lining in Every Mother's Nightmare. Issues In Comprehensive Pediatric Nursing, 34(1), 40-55. doi:10.3109/01460862.2011.557905
Gorin, S. S., & McAuliffe, P. (2008). Implications of childhood cancer survivors in the classroom and the school. Health Education, 109(1), 25–48.
Greening, L., & Stoppelbein, L. (2007). Brief Report: Pediatric Cancer, Parental Coping Style, and Risk for Depressive, Posttraumatic Stress, and Anxiety Symptoms. Journal Of Pediatric Psychology, 32(10), 1272-1277. doi:1o.1o93/jpepsy/jsmo57
Mertens, A. C., Yasui, Y., Neglia, J. P., Potter, J. D., Nesbit, M. E., Ruccione, L.,...Robison, L. L. (2002). Late Mortality Experience in Five-Year Survivors of Childhood and Adolescent Cancer: The Childhood Cancer Survivor Study. Clinical Pediatrics, 41(1), 64-65. doi: 10.1177/000992280204100115
Norberg, A. L., & Green, A. (2007). Stressors in the Daily Life of Parents After a Child's Successful Cancer Treatment. Journal of Psychosocial Oncology, 25(3), 113-122. doi: 10.1300/J077v25n03_07
O'Leary, M., Krailo, M., Anderson, J., & Reaman, G. (2008). Progress in childhood cancer: 50 years of research collaboration, a report from the Children's Oncology Group. Seminars In Oncology, 35(5), 484-493.
Pai, A. H., Greenley, R., Lewandowski, A., Drotar, D., Youngstrom, E., & Peterson, C. (2007). A meta-analytic review of the influence of pediatric cancer on parent and family functioning. Journal Of Family Psychology, 21(3), 407-415. doi:10.1037/0893-322.214.171.1247
Sacchetto, U., da Lustrosa, C., & Miyuki, R. (2002). Congenital retinoblastoma: report of a case Retinoblastoma congênito: relato de caso. Arquivos Brasileiros De Oftalmologia, (5), 571
Stuber, M. L. (1995). Stress responses to pediatric cancer: A family phenomenon. Family Systems Medicine, 13(2), 163-172. doi:10.1037/h0089256