We met Allyson and her son Peter in our counseling class. Peter has spinal muscular atrophy (SMA) since he was born. The aim of meeting them is to expose us GC students in real world, learn the way people with disability dealing with their life on a daily basis, the hardships patients’ family get through which we healthy people barely think about. The story is touching and inspiring, like many other personal accounts I’ve read.
It all started when Peter was about 6 months old. Allyson noticed something wrong when her baby boy. He barely moved his legs. A neurologist later diagnosed the boy as SMA. Since then, the tough mother started her journey of bringing the best out of her son’s life. She is the primary caregiver and enthusiastic advocate for SMA society. SMA patients are usually thought to have short life span. But her son is 6 years old now and he was not sick last year. He is doing pretty well in school. I would definitely call it a triumph.
What did I learn from this story?
1. Again, living with and taking care of disable people are very challenging. In many cases, family is leading a roller coaster life. They feel hope when the patient is doing well, whereas people are depressed when patient’s condition deteriorates. It is heart-wrenching. She experienced days and nights in the hospital when her son’s condition was getting worse. Parallel the physical pain resulted from taking care of a sick kid, dealing with health insurance companies, bearing people’s ignorance even indifference about the disables also tortured her. But she went through all those hardships positively. She is obviously an optimistic and strong mom.
2. I echo her feelings when the neurologist told her that her son had SMA and would die within 2 years in a matter-of-fact fashion. When I was told my baby had IUGR, I felt bad and had no idea where to seek help, especially when the doctor told me the baby was asymmetrical. “What am I carrying”, “What the baby looks like” were the questions popped into my head immediately. I was scared and even prepared to accept a baby with mental and/or physical disabilities. It is understandable that health care providers have seen numerous cases, some are even worse. It is not unusual to them. They just tell the truth or symptom to their clients, they are doing what they are supposed to. But for every single patient and their family, they are facing the disease the first time. They are scared and frustrated, especially at the moment when the message is delivered. For pregnant women or those who just give birth, their entire life, at that moment, is the baby. The information their baby is sick and will certainly die will kill them. So it is extremely important to pay attention to how the information is conveyed as well as what information is conveyed. I believe showing empathy and being positive, bringing them hope is important. We can tell them that the baby could lead a full life with some kinds of therapies such as physical therapy or speech therapy, or medicine is always developing, we may find a way to at least improve the approaches to manage the condition in the near future. As a matter of fact, a great deal of evidence has proved that the advancement of medical intervention has elongated the expectancy of those who suffer fatal diseases. Here is a caveat though that people may feel discouraged when what they expect has failed to come in their time frame. Only when the health care providers are optimistic, the patients could be encouraged to lead a healthy and productive life. Attitude and perspective are keys for people to choose the way they live.
3. How ordinary people look at those disables? Allyson didn’t encounter disrespect and even discrimination from ordinary people. One reason is her kid is not as severe as many other disables who are dependent on ventilation or oxygen tank, or who is plugged with many tubes, visually make people feel unpleasant. He is very out going and easily makes friends with everyone. You can’t ignore a kid’s smile even he has mobility disability. Another reason, in a large picture, people generally accept disables, a good sign of development of the society and civilization. I couldn’t help comparing the situation of disables in
4. Dealing with bad news in a positive way will bring an invaluable network. In this case, when Allyson was informed that Peter had SMA, the woman talked to her families, friends, neighbors and colleagues. She proactively seeks help from any sources she could find. Her husband, on the other hand, “lying on the floor all day without saying a word” in her words. It turned out that the net work did benefit her. For example, by talking to her friend’s friend, she could have the opportunity to see a neurologist 2 months earlier than her appointment. Therefore, talking to people, releasing your frustration and getting help are very beneficial for patients and their family. GCs are responsible to provide information for patients and their families to establish useful network.
5. My supervisor told me that she was not so optimistic last year as this year due to her kid’s several hospital stays last year. It is tragic when a mom sees her kid getting worse though I believe they all sort of prepare to accept the death of this boy. When it really approaching, it is still hard to accept. It indicates that people’s perspective is changing based upon their current conditions. So hope for the best and prepare for the worst, enjoy everyday is always the right thing to do. It is ok to feel helpless when things are really getting worse. We are human beings not God.
6. Again, I have to point out that her family are well educated and belong to high socioeconomic level. Her financial status allows her son to possess the most advanced equipments. What if she was not financially secured? Can she do the same? Socioeconomic status always poses impact on people’s perspectives toward the world and decision making. So does cultural background.
7. In a nutshell, as a genetic counselor what should I do?
1) Pay great attention to the way message is delivered. Show sympathy and concerns to patients and their families. Be positive and optimistic. Provide as much and accurate information, especially most updated information in follow ups.
2) Meet the psychosocial needs of patients and their family. Follow up from time to time if possible.
3) Take them first as a person who needs help, then medical help. Engage some small conversations. Care about their family (like a regular friend). Establish a trustworthy relationship.
4) Take a bit time to learn about the patient’s personality, socioeconomic status and cultural background which will decide the way the information is provided and their decision making. Learn to listen to people.
The following is excerpted from SMA foundation website.
SMA is characterized by a progressive loss of muscle control and movement and increasing weakness due to the loss of motor neurons in the spinal cord. Proximal muscles (muscles closest to the center of the body, such as those in the trunk and neck) are more severely affected than distal muscles (muscles furthest from the center of the body, such as those in the hands and feet). Normal growth and development can place additional demands on already weakened muscles. There is a wide range of severity of SMA; however, even in its moderate form, SMA can limit function and mobility. People with SMA either never acquire, or progressively lose, the ability to walk, stand, sit and eventually move. Although the disease varies in terms of age of onset and severity, most patients start to show symptoms during infancy or as toddlers. People with SMA often develop bone and/or spinal deformities which may require surgical treatment. Respiratory illnesses may be more common for people living with SMA and can be severe. Good multidisciplinary care, including physical therapy, occupational therapy, respiratory therapy, and nutritional support, can improve quality and length of life for people with SMA and is recommended. It is important to note that children with SMA undergo normal intellectual and emotional development and, with help and support, can participate in many childhood activities.
