Summer reading summary
During the summer vacation, I’ve read several personal accounts including “The cure” about a father’s fight for Pompe disease; “Count us in” about two teenagers’ triumphant life with Down syndrome; “Worth the ride” about a productive life of a DMD patient and “The year of magical thinking” about handling grief caused by the author’s husband’s sudden death; “Sarah’s song” about fighting and surviving with HIV. Every story is heart wrenching yet inspiring. They made me think and I could not simply let them go. I’ve learned how the life led by a person with fatal disease looks like; the hardships patients and their family go through; their tenacity when facing difficulties; their perspectives toward diseases and the world; and what and how a genetic counselor can be helpful.
Progressive genetic disorders shatter lives and dreams of patients and their families. Take “The Cure” as an example. Megan and Patrick with rare fatal disease fundamentally changed the life of entire Crowley family. John and Aileen faced unexpected challenges so early in their marriage. Witnessing their kids chronically deteriorating when they should grow and develop happily was heartbreaking. Even John, the positive man, sometimes wanted to quit, or at least run away from this miserable life, when he could barely see any hope. The endless battle to save their kids nearly cost their marriage. Exhausting work and little hope changed the dynamic relationship between John and people around. Putting my feet in their shoes, I understand the unimaginable difficulties they encountered in their life on a daily basis. Naturally people will undergo several stages when the horrible unexpected diseases happen to them. They are shocked and deny what happened when confronted by the news. Some people are even obsessed with the question “why me” for a long while even they know nothing could be changed. Some parents became emotionally detached from their kids as a result of feeling guilty and selfish. Since the nature of genetic disorders is to affect more than one generation in a family, patients usually feel difficult to uncover their diagnosis to their relatives and inform them to be tested. It is also difficult for them to explain to their kids the difference between them and others. Social isolation could prevail in some areas where bias to disables has been rooted in certain social norms or culture, which more likely makes patients and their families feel shame and withdraw from their previous social life. Even worse, genetic disorders are thought to be a punishment from super power by ignorant people who possess superstitious beliefs. Apparently, psychosocial predicament is an unavoidable problem aside from physical pain.
While people accept the reality, they start positively coping with the new challenges and adapting to the new conditions with strength and support from family and professionals. The graceful resilience depicted in these stories is very touching and encouraging though the process of adjustment is painful and full of ups and downs. “Be fabulous, don’t let one thing ruin your life” (quoted from a progeria patient) becomes the life philosophy for most patients and families. They manage to meet each everyday with bless and happiness. They establish a new normal life with dreams, thoughts and feelings specifically beneficial for their conditions. As “The cure” described, John was committed to spearhead the effort to interact with scientists and investors, and accelerate the therapeutic research with the help of his education and network. His determination bonded the family closer and tighter, and inspired people working with him. None of the patients and their family asked for people’s sympathy. In contrast, I am inspired by their optimism and persistence, their strong desire of leading a full quality of life as possible as they can, their never-ending love and support with each other and determination of never giving up. They teach me invaluable life lessons. Meanwhile, the disables serve as vehicles to educate general public and advocate scientific research for shedding light on the molecular pathogenic mechanisms and developing target drugs.
Where do genetic counselors fit in this big picture? Genetics and counseling are two wings for genetic counselors to provide efficient service for their patients and families. Dysfunction of either of the wings would lead to ineffective service resulted from the significantly harmed relationship between genetic counselors and their clients. Genetic counselors should take a patient first as a human being who needs special help. I really hate to see such a young sick boy was exposed in front of hundreds of medical students and showing them the symptoms in the movie “Lorenzo’s Oil”. It is too cruel to benefit medical students without taking into account of the patient’s feeling. Engaging some small conversations and caring about their family would lessen the patients’ anxiety and facilitate the establishment of a trustworthy relationship which will benefit both genetic counselors and their patients. Genetic counselors are standing in the forefront of genetics; updated genetics information will bring hope to patients and their families, effective psychological therapies would be of help for taking patients through the psychological transition, gaining confidence to manage genetic disorders in a positive way. For example, the genes causing cystic fibrosis and Duchenne muscular dystrophy were discovered in 1980s. No effective cure thus far. However, CF or DMD patients’ life expectancy has been dramatically extended within the past two decades by effective medical interventions. Thus, being positive and making efforts to bring about the best outcome is the responsibility of genetic counselors.
Genetic counselors should be sensitive about personality, culture, value and religion and provide personalized service suitable for both the patients’ genetic makeup and their psychosocial specificity. John’s family, for instance, was relatively rich and belonging to upper middle class. And the experience of studying in Harvard Business School had helped him establish an important network. The first fund he raised for the Children’s Pompe Foundation was through his Harvard classmates. If his family was poor and he was not one of Harvard alumni, what would he do? Or if he had no health insurance or access to the most updated and useful information about Pompe treatment, could he do the same? What if John’s family were newly immigrants? Should a genetic counselor work the same way in different scenarios? Socioeconomic status, cultural background, education level and religion beliefs all contribute to a person’s perspectives and attitude toward the disease. The poor have different concerns from those well-to-dos in decision making. I believe the more a genetic counselor learns about a patient’s and their family’s socioeconomic and cultural status, the more effective she will help their decision making and management of the diseases.
If genetic disorders could be cured as many common diseases, patients and their families would suffer much less pain and anguish. Our counseling work would be much easier. In another word, what patients and their family really need is a cure, which has been passionately portrayed in “The cure” and “Lorenzo’s Oil”. Unfortunately, the majority of genetic disorders will affect multiple organs and are incurable; the molecular mechanisms have not even been fully veiled yet. Insufficient information about diagnosis, management and treatment makes genetic diseases very complicated. The ultimate goal of medicine is to prevent and treat diseases, improve the quality of life. To reach the goal, scientific research is the key. However, science is a marathon rather than a sprint. It takes time and patience to translate lab results into clinical application. But the better we understand our genes, the faster and more effective we will be able to apply the knowledge to improve our lives.
Need to point out that no one is God. Genetic counselors have their limitations. It is critical for health care professionals, patients and their families as well as social supporting groups to work together in order to improve the quality life of patients.
