Cystic fibrosis is basically a hereditary condition that is based upon the accommodation of the thick and sticky mucus in the body. The pancreas, lungs and other organs will be very much prone to damage as a result. This is the most prevalent genetic disease among kids and diagnosis of Cystic fibrosis at an early stage will significantly impact the disease control, quality of life and lifespan. Understanding the importance of early deduction with the help of paediatric hospital experts will be very much important for parents, caregivers as well as medical professionals.
In very simple terms, cystic fibrosis is an inherited disease that creates thick and sticky mucus to accommodate the organs which will eventually block and damage them. A lot of people have the misconception that it is a lung-related disease but actually, it will be acting on the breathing passage that will be leading to difficulty in breathing as well as leading to consistent infections. This particular damage will create a significant number of issues in creating the digestive enzymes which will make it very difficult to absorb the nutrients from the digestive system. Due to the defective proteins, minerals and other associated issues water will also be present in the entire process and mucus will remain very thick as well as sticky. Some of the common types of cystic fibrosis that you need to know are
- Classic cystic fibrosis: This is generally affecting several organs and mostly will be diagnosed during the early years of life.
- Atypical cystic fibrosis: This is a mild variant and will be impacting only one organ and will be creating the symptoms that will be fluctuating over the time. It is usually identified in older children and adults.
Some of the common symptoms associated with cystic fibrosis are:
- Consistent problem of lung infections
- Consistent coughing with very heavy mucus
- Wheezing
- Very oily and bulky motions in addition to diarrhoea or constipation
- Difficulty in gaining weight and inadequate height development
- Extremely salty perspiration
- Problem of fatigue with sinus consistent problem of infections and nasal polyps
Usually, this particular problem is a result of the mutation in the genes responsible for producing the CFTR protein and for any child to develop this problem they must inherit two copies of the faulty problem from each of the parents. Hence in this particular case, the children who have been suffering from this particular problem will be either producing the abnormal CFTR protein or will be failing to produce it altogether. The buildup of mucus in this particular problem will affect the lungs, trap the bacteria and increase the risk of infections, inflammation and breathing difficulties. Further, it will block the digestive enzyme flow, will prevent the pancreas from properly delivering the enzymes and also will impact the other organs including the sweat glands, reproductive system and liver. Some of the common details you need to know about the diagnosis of cystic fibrosis as recommended by the haematology and medical oncology experts are:
- Doctors in this particular case will be doing the painless sweat test if the screening test will be coming positive or the kids are exhibiting the signs of cystic fibrosis. This will be all about determining the amount of chloride, which is substance found in salt in sweat which has to be gathered to form a specific Result oriented approach.
- By the age of two years majority of the children who will be suffering from this particular problem will be receiving the diagnosis and having a moderate variety in this particular case will not be identified until adolescence.
- In some cases, cystic fibrosis testing will be recommended for the old children and the adults who are not at all at birth. If you are experiencing frequent pancreatic inflammation or chronic sinus infection then the healthcare provider in this particular case will be suggesting the genetic testing with the other testing to check out for the cystic fibrosis.
- Genetic testing in this particular case will be recommended by the doctors to identify the specific mutation in the genes which are responsible for this particular issue and the test will be done with IRT to confirm the cystic fibrosis diagnosis.
- Early diagnosis in this particular case will be very much important because earlier the condition has been detected the chances of preventing the severe lung damage will be very better and high. This will be helpful in dealing with the nutritional deficiencies very easily and will be making sure that incorporating of the things will be professionally done even before the symptoms will be appearing.
Some of the common details you need to know about the management of cystic fibrosis as recommended by the haematology and oncology doctors are:
- Cleaning the mucus from the lungs: In some of the cases the doctors will be recommending the removal of the mucus by engaging into regular physical activity, usage of the nebulizer and practising the controlled breathing with purposeful coughing. Undergoing the chest physiotherapy is another very important thing that you can go for so that you can enjoy relief.
- Prevent preventing and treating lung infections: To reduce the risk of infection children should wash their hands frequently, avoid close contact with sick individuals and maintain a distance of at least 6 feet from others suffering from this issue. Taking the prescribed preventive antibiotics whenever required is also very much recommended in this case.
- Supporting the digestion: Since this cystic fibrosis will be affecting the pancreas, majority of the children will be requiring the enzyme supplements to the digestion of food and absorb the nutrients very properly without any problem.
- Maintaining proper nutrition: Very high calorie diet with vitamin supplements will be required in this particular case to support the growth and overall health and make sure that there is no scope of any kind of problem at any moment of time.
Hence as parents, it is very important for you to stick to the plan of treatment, encourage physical activities and educate yourself about the entire condition so that you can manage the condition of the kids very well. By remaining informed and proactive you will be able to make sure that your child will be receiving the best possible care and further will be highly successful in managing and overcoming this paediatric genetic disorder very effectively.