According to the Cystic Fibrosis Foundation, more than 30,000 people in the United States have cystic fibrosis. Every year, 1,000 people are diagnosed with it globally.
Have you heard of this disease? Is there anyone in your family who suffers from it? Let’s find out what it is.
Having Someone You Love Diagnosed with Cystic Fibrosis Can Be Overwhelming
Cystic fibrosis (CF) is a genetic disease that causes thick, sticky mucus that builds up in various organs, blocking and damaging them.
While many people consider CF a lung disease because it affects the lungs and airways, making breathing difficult and causing frequent infections, it also impacts other organs.
CF causes cysts and scarring in the pancreas, blocking ducts that release digestive enzymes and making it hard to absorb nutrients. Additionally, CF can affect the liver, sinuses, intestines, and sex organs.
There are many resources and treatment options available to help your loved one live a full and active life even if CF is a lifelong illness.
What is Cystic Fibrosis?
People with cystic fibrosis (CF) have a genetic mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene controls the CFTR protein in every organ that creates mucus. It is also present in other organs and tissues, including the:
- Lungs
- Pancreas
- Intestines
- Liver
- Heart
- Immune system
- Sweat glands
Types of Cystic Fibrosis Mutations
Cystic fibrosis mutations are divided into five classes:
Class 1: Protein Production Mutations
- Amino acids do not code correctly for the CFTR protein.
- Nonsense mutations stop protein production prematurely.
- Splice mutations add irrelevant code, disrupting the genetic sequence.
Class 2: Protein Processing Mutations
- Wrong amino acids are added or deleted.
- Changes the CFTR protein’s shape.
- Prevents the protein from reaching its proper place in the cell.
Class 3: Gating Mutations
- CFTR protein acts as a gate for chloride movement.
- Mutations prevent the gate from opening fully.
- Limits or stops chloride movement through the cell.
Class 4: Conduction Mutations
- CFTR protein forms the correct shape.
- Impairs the protein’s function.
- Slows chloride movement through the protein channel.
Class 5: Insufficient Protein Mutations
- More CFTR protein is needed in each cell.
- Caused by low production, non-functioning proteins, or quick breakdown.
- Reduces the function of the chloride channel.
Symptoms of Cystic Fibrosis
If you’re worried a loved one might have cystic fibrosis, recognising the symptoms early can make a big difference in managing their condition. Here are the symptoms to watch for:
- Frequent lung infections (recurrent pneumonia or bronchitis).
- Loose or oily poop (stool).
- Trouble breathing.
- Frequent wheezing.
- Frequent sinus infections.
- A nagging cough
- Slow growth.
- Failure to thrive (inability to gain weight despite having a good appetite and taking in enough calories).
Atypical Cystic Fibrosis
Cystic fibrosis typically presents in childhood with the symptoms listed above. However, some people have a milder form called atypical cystic fibrosis. This means they may not experience symptoms until later in life and may have fewer or less severe symptoms than those with classic CF.
Atypical CF can affect one or more organs and some of the additional symptoms you might see over time include:
- Chronic sinusitis
- Nasal polyps
- Dehydration or heatstroke from abnormal electrolyte levels
- Diarrhoea
- Pancreatitis
- Unintended weight loss
Understanding these symptoms can help in managing the condition more effectively. If you notice any of these signs, seeking medical advice is important.
How Is Cystic Fibrosis Diagnosed?
Healthcare providers often test for CF during newborn screening using a few drops of blood from the baby’s heel to check for immunoreactive trypsinogen (IRT).
IRT is a chemical made in the pancreas. High levels of IRT can indicate CF, but other conditions, like preterm delivery, can also raise IRT levels. Therefore, a positive IRT test alone doesn’t confirm CF. Further tests are needed for a final diagnosis.
In some cases, the newborn screening may miss CF. If you or your child shows symptoms of CF, a sweat test and additional tests will be performed.
Treatment for Cystic Fibrosis
There’s currently no cure for cystic fibrosis, but treatments can help manage symptoms and improve quality of life. The best approach depends on a person’s specific symptoms. Here are some treatment options:
Airway Clearance
Loosen and clear mucus from the lungs to ease breathing and reduce infection risk.
Techniques include:
- Postural Drainage: Using gravity to move mucus to the centre of the airways.
- Percussion: Clapping cupped hands against the chest to loosen mucus.
- Vibration: Exhaling while a therapist makes light, repetitive movements against the chest.
- Breathing Techniques: Specific exercises to dislodge mucus.
- Positive Expiratory Pressure: Using a device to support airflow and move mucus.
Medications
- Bronchodilators: Relax lung muscles to expand airways and clear mucus.
- Hypertonic Saline: Sterilised salt water to clear mucus and improve lung function.
- Ibuprofen: High doses to slow lung function decline.
- Dornase Alfa: Inhaled drug to support mucus clearance.
- Antibiotics: Oral or IV antibiotics to treat bacterial lung infections.
Infection Management
Antibiotics: Treat bacterial infections.
Preventative Measures
- Follow treatment plans closely.
- Get recommended vaccinations, like flu and pneumococcal vaccines.
- Wash hands regularly, especially before eating, taking medications, using breathing equipment, and after using the restroom.
Nutritional Therapy for Digestive Symptoms
Dietary Guidance from a registered dietitian:
- High-Fat Diet: Counteract nutrient malabsorption with high-fat foods and vitamin supplements.
- Increased Calorie Intake: Prevent weight loss by consuming 2,500–3,000 calories per day for females and 3,000–3,700 calories per day for males.
- Increased Salt Intake: Compensate for salt lost through sweat, especially in hot climates or with exercise.
- Pancreatic Enzyme Supplements: Help with digestion, weight maintenance, preventing malnutrition, and improving bowel movements.
These treatments can help manage cystic fibrosis and improve the quality of life for those affected.
Do You Need Cystic Fibrosis Home Care Assistance?
As CF is a progressive disease, the level and type of support needed can vary from person to person. It is best to find a registered NDIS service provider in Queensland that understands this and creates a customised home care assistance plan for each individual.
CF home care assistance provider should offer the following services:
- Emotional support for you and your loved ones
- Advice and education for loved ones on managing the condition
- Administering medications
- Coordination with other services such as occupational therapy, speech therapy, and physiotherapy
- Nutritional advice
- Mobility and personal care support if required
We, Beacon Support, can provide you with CF home care support. We aim to help your loved ones live more independently and continue enjoying the activities they love.
Cystic Fibrosis Home Care Support
We offer daily help with personal routines and treatment plans for people with cystic fibrosis. Our services include reducing the risk of infection through thorough cleaning and disinfection, supporting safe outdoor activities to improve lung function and well-being, and providing palliative care.
Our team of registered nurses and carers understand the unique challenges of cystic fibrosis. With over 17 years of experience, we develop strategies to enhance your quality of life and independence. We will also help you navigate NDIS insurance funding and other available subsidies.
Contact us today for a free consultation to discuss how Beacon Support can help you manage your cystic fibrosis effectively and live a more independent life.
