The Two Defective Genes

Published Date: 02 Nov 2017

In CF the defective gene is known as CFTR.This gene is found on chromosome sevenwhich affects the glands that produce mucus, sweat and intestinal secretions resulting in the buildup of thick mucus mostly in the lungs and digestive tract,but can also affect other areas of the body.This gene which contains CF mutation interferes with the flow of water and certain salts in and out of the body's cells. Due to this, secretions which are normally thin and watery in normal people become very thick and sticky, resulting in the blockade of pathways to organs. This collection of mucus results in life-threatening lung infectionsas the bacteria that are normally cleared by the airways remain in the thickened mucus. Many of these infections continue to reoccur causing severe damage to the lungs. Digestion problems occur when the substances which aid in digestion and are secreted by the pancreas become thick, thuscausing ductsaround the body to become blocked. This results in fewer enzymes being transported around the body. These enzymes are needed to aid in digestion. Without these enzymes, the patient has difficulty with the absorption of nutrients such as fats, proteins, vitamins and certain other minerals. Due to theseneeds the CF patient is on constant medication and exercises which may lead to various psychosocial implications.

According to the‘Common Sense Model’as stated by Leventhal,the psychosocial implications are dividedinto six dimensions which explains how a person is most likely to perceive the symptoms of the chronic condition. The six dimensions are divided as follows:time-line, consequences, treatment control, personal control, emotional representations, identity, and illness coherence.

CFbeing a chronic disease may have various psychosocial implications both on the patient and on the family as a whole.Developing a sense of self that includes acknowledgement of the disease may take time for the patient. The patient goes through a phase of denial, may try not to think about CF as they pursue normal daily activities and plans. However, CF becomes an important factor in their life, depending on the severity of the diagnosiswhich varies from one patient to another.

A person suffering from CF may feel anxious, misunderstood, frustrated, guilty, isolated, and inferior when doing certain activities that may require a lot of energy.Families with a patient suffering from CFmay find it difficult to maintain normal family relationships. Less time with family members leads to the breakdown of adequate communication to discuss important family issues. Misunderstanding and tension generally leads to an increase in stress within the family.

The CF person develops a predictive belief of how long the condition might last (i.e. constantly asking questions regarding the nature of the condition whether it is acute or chronic). The patient is also constantly aware of the consequences the condition might have both physically and socially in his life.Fear of the unknown is very frustrating for the patient. Re-evaluation of the condition along time is a mean that canhelp the patientto adopt with this condition. The patient is frequently aware of the demands being put upon the family by the condition itself. These demands need to expressed openly as a whole family, if these are not discussed everyone is cought in their own thoughts and feelings of frustration. This results in a burden for everyone, including the patient, and can lead to psychological problems among the whole family.

The person suffering from a chronic disease often develops an individualistic idea about the perceived cause of the condition. The perceived causes of the condition are usually from external causal factors such as smoking and pollution believing that shortness of breath caused by smoking instead of CF. Another perceived cause is that of believing that this was meant to happen. It is important that the physician keeps in mind the importance of understanding the patient’s belief about the condition, before an individual care plan could be formed. The need to know more about their condition often drives the patient to consult friends, media sources, health professionals and family members for information, which may not be correct thus creating more damage. It is important that information about the condition is given from adequate sources and not only to the patient but also to the other members of the family.Due to stress the information givenmay be misunderstood. Thiscan be solved by clear explanation, asking the patient to repeat the information given and if needed,this information is written down by the patient to make sure that the patient has clear knowledge about the condition. The patient may feel anxious that he/she would not copetherefore it is important that other members of the family get involved and offer their support.

Peter Gollwitzer spoke about the importance of an individual action plan formed with the patient by discussing how, when and where? (Gollwitzer, 1999).Leventhal pointed out the importance of adherence. (Diefenbach, 1992)Non-adherence tends to arise for example, when a practitioner fails to discuss a treatment regime with the patient, give unneeded information, uses technical language and fails to monitor the patient’s performance of the regime on follow-up visits. When patients fail to see themselves vulnerable to the consequences of the condition, they would be less motivated to adhere to their treatment regime. On the other hand, those who accept their vulnerability will adhere more to the treatment regime. This shows the importance for the need that the individual participates in his/her own care by taking certain initiatives such as taking their own condition such as taking treatment. By assuming some responsibilities the patient gains more awareness on the changes that are occurring, and what his/her abilities and limitations are.

The patient and the family members often find it difficult to adaptto the needs caused by CF into their daily activities.One main need of a CF patient is regular chest physiotherapy. Physiotherapy helpsto clear the airways from the thick mucus which is a main symptom of this condition. The physiotherapist usually shows the parents or other family members how to do these procedures at home. This helps the family members to feel more involved in the care plan. An advantage of this is that it is more feasible as they do not have to drive twice daily to the hospital, leaving more time for family activities.

Some people find it tough to do all that is suggested or expected for the treatment of their condition. CF is a disease that requires a considerable amount of attention. It is very challenging for both the family and the patient to go suddenly from little or no treatments to a daily program of medications and therapy. Allocating time for these new treatments is challenging, especially for working and parenting adults. Treatment such asantibiotics, bronchodilators and enzymes are needed by the patient on a regular basis. The family and the patient may find it hard to follow a treatment plan because this requires a lot of time which must be taken from several outdoor family activities. This increases frustration and anxiety that they will not be able to cope with these changes leading to misunderstanding between the family members. Discussions between the patient, physician and the family members could lead to more understanding and appreciation of the burdencaused by CF. Parents with a child suffering from CF often have a tendency to blame each other and themselves for their child’s condition.

Siblings should be involved in the care plan of the condition as they are not given the usual attention by their parents. By clear explanation the siblings would have a better understanding of why they are not given the same attention as their other sibling.

It is also very important to encourage patients with CF to exercise and to be as active and fit as possible to strengthen the body’s resistance to infections. Participation in various sports such as running and swimming and continuing to practice hobbies on a regular basis has shown to ease the symptoms of CF. This may not always be easy as the person usually suffers from inferiority problems caused by feelings of stigmatization and fear to participate believing that he/she is not able to cope well with others

Families need to be able to make use of services offered to them by the community. These services are there to help give assistance on possible needs the patient and the family may encounter. Due to the short period of time that these families encounter a stressful situation they may need assistance to make use of services offered to them by the community. These services usually offer financial, spiritual, educational and psychological support. This is where the nurse’s role comes in. Nurses need to be fully aware of the organizations that are found today so that they can pass on this useful information. These organizations often offer more information about the condition than that offered by general practitioners. Meeting others suffering from the same condition helps the patientsto adhere more to their condition. By learningto cope more with their condition the patients gain more understanding of the care being given.The homecare services offered in Malta such as the MMDNAnurse service could free the family from constant care. Family Service Agenciescould be used for counselingregarding family problems.

In summary, this assignment enhances the need for the whole family to have an understanding and awareness of CF and to share such knowledge with one another. All problems of the family have to be taken into account not just those of the patient. Help from other professional people should be utilized along with sources of the community. In the end it is important to keep in mind that every person is unique and may have different needs.