Firstly I am not a medical doctor. The following is for informational purposes only. It may serve as a starting point if you, or a loved one, has recently been diagnosed. It should not replace any professional advice you have received.
The reason I include such blogs is because of my own experiences regarding diagnosis in the past. I received a disability diagnosis about one of my children but no one told me what it meant or where to seek help. I felt like I was drowning and I don’t want anyone else to every experience that again.
What Is Cystic Fibrosis?
Cystic fibrosis (CF) is a genetic condition that mainly affects young people. Ireland has one of the highest CF per capita rates in the world. About 34 new cases are diagnosed in babies each year.
Cystic fibrosis can be a life threatening condition. Some people will live until their teens while others can live longer lives in to their 20’s 30’s and 40’s. People with CF can still lead an independent and active life when their condition is managed properly.
In Ireland with the introduction of a new born screening test (2011) most babies with CF should now being diagnosed more quickly. This test is done as part of the heel-prick test all babies receive not long after birth. Alongside CF other conditions are tested for at this time: Phenylketonuria (PKU), Congenital Hypothyroidism, Maple Syrup Urine Disease, Classical Galactosaemia and Homocystinuria.
Some Facts About CF.
The gene that produces CF leads to the production of mucus that is thicker and sticker than normal. This affects multiple organs but mainly clogs the lungs and obstructs the pancreas. It makes breathing difficult and leads to severe lung problems.
It can also lead to complications for other organs such as the liver and digestive problems. This can result in malnutrition. There is also a higher risk of diabetes and osteoporosis among CF patients.
There is no known cure as yet. But with good nutrition and taking steps to thin and expectorate mucus the condition may be helped and people with CF can lead independent lives.
Symptoms Of Cystic Fibrosis.
The most common symptoms of CF are:
- Very salty-tasting skin
- Persistent coughing
- A shortness of breath
- Wheezing
- Poor weight or growth gain even with an excessive appetite
- Greasy, bulky stools
Complications With Cystic Fibrosis.
There are a number of complications that can arise because of cystic fibrosis. These can affect the respiratory, digestive and reproductive systems, as well as other organs.
Respiratory System Complications.
- Bronchiectasis. A chronic lung condition with abnormal widening and scarring of the airways. This makes it harder to move air in and out of the lungs and clear mucus from the bronchial tubes.
- Chronic infections such as sinus, bronchitis or pneumonia may occur. Thick mucus in the lungs and sinuses provides an ideal breeding ground for bacteria and fungi.
- Nasal polyps caused because the lining inside the nose is inflamed and swollen.
- Coughing up blood (hemoptysis). Often this is only a small amount of blood, but it can also be life-threatening.
- Pneumothorax a condition where air leaks into the space that separates the lungs from the chest wall and part or all of a lung collapses.
- Respiratory failure occurs over time as cystic fibrosis can damage lung tissue so badly that it no longer works.
- Acute exacerbations may be caused by worsening respiratory symptoms. Sometimes this may be treated at home but hospitalization may be needed.
Digestive System Complications.
- Nutritional deficiencies.
- Diabetes.
- Liver disease and sometimes gallstones.
- Intestinal obstruction.
- Distal intestinal obstruction syndrome (DIOS) is partial or complete obstruction where the small intestine meets the large intestine. This requires urgent treatment.
Other Complications.
- Infertility in men.
- Reduced fertility in women.
- Osteoporosis plus joint pain, arthritis and muscle pain.
- Electrolyte imbalances and dehydration.
- Mental health problems such as depression, anxiety and stress to name a few. Dealing with a chronic illness that has no cure is difficult for all involved. Reaching out for support is crucial.
Treatment For Cystic Fibrosis.
There is no current cure for CF but treatment can manage the symptoms. Symptoms can vary so treatment plans will be individualized.
Lung therapies include using nebulizers, inhalers, sinus rinses and sprays, oral antibiotics and supplementary oxygen if required. Daily physiotherapy to clear lungs is essential to help loosen and get rid of mucus. This is crucial for improving breathing and to minimize lung infections. Hospitalization and intravenous antibiotics may be required also if respiratory symptoms worsen.
Gastrointestinal therapies can include the use of high calorie diets to get enough nutrients and vitamins absorbed. Plus taking enzymes to aid digestion and absorption plus also taking multi-vitamins and supplements. People with CF may also require osmotic laxatives and anti-reflux medication. PEG feeding may also be required to help weight gain.
Cystic fibrosis related diabetes affects about 40% of people with CF. This will need to be monitoring and treatment. About 70% of CF suffers may have a glucose intolerance and must monitor their glucose levels on a regular basis. They will also need to follow a well balanced diet.
Lung transplants, although not a cure for CF, can help with serious illness and advanced loss of lung function.
Causes And Diagnosis Of CF.
CF is an inherited condition and both parents must be carriers of the gene for their child to be born with CF. People who are carriers do not have any symptoms or the condition. Around 1 in 19 people in Ireland carry the CF gene and testing is available, please speak to your GP about this.
Not all children born to two gene carriers will be born with CF. There is around 25% chance that a child will be born with CF is both parents are carriers. There is also a 50% chance that a child will also inherit the gene but not have CF.
As I said already all new born children are screened for CF when they are born. This can indicate that they might have the gene and require further testing.
This is done through a sweat test. It is a simple test in which a small amount of sweat is collected. It tests for chloride, a component of salt, if this is high it is an indication of CF. Genetic tests can be used to confirm if the child has CF if the sweat test is unclear.
Support And CF.
Research in Ireland has shown that there are improvements in recent which is encouraging indicators for those living with CF. Although attendance of school/college/work still remains difficult for many reasons. Treatment can take up to 2-3 hours a day plus more time off if further treatment is required. Therefore communications and better understanding are key components to helping people with CF to live independent lives.
It is also crucial that people with CF and their families understand their rights and entitlements under the law in Ireland. Please click the link to CF Ireland below for further information about CF, employment, education, rights, etc.
Links To National Support Groups.
Europe And Other Countries Around The World.
Parenting And CF
I have a variety of blogs and videos to help parents of special needs children. You might be interested in the following ones specifically: Dealing with guilt as a special needs parent, Choosing a school for a disabled child, Accessing services in third level with a disability and information on other disabilities.
You as a parent also need support for yourself including your mental health. Coming to terms with any diagnosis can be hard. I would strongly advise you to make sure you create a positive support system around you.
Reach Out For Support
One part of that positive support system is working with a therapist. A strong positive support system will provide you with tangible, informational, emotional and social support. As a parent of a special needs child that is invaluable and vital. Believe me I know how vital the right support can be at this time.
My Workbooks
I offer a variety of tips and discuss a range of topics in my workbooks The Building Blocks Of Self-Care, Moving Towards Self-forgiveness, The Little Book Of Reflection And Gratitude and Building Acceptance Into Your Life. You can purchase them on Amazon or here.
You must be logged in to post a comment.