Mucoviscidosis FAQs 
| FAQ ? Frequently asked questions about mucoviscidosis |
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How is cystic fibrosis diagnosed?
The basic examination used to diagnose cystic fibrosis
is a sweat test. The sweat test is performed by using an electrode
filled with pilocarpine. The electrode is placed on the inner forearm,
and a second electrode is placed on the outer forearm. A current is run
through the electrodes delivering the pilocarpine under the skin. Is prenatal detection of cystic fibrosis possible? Yes. Modern technologies have enabled diagnosing and exclusion of cystic fibrosis in 1st and 2nd trimester of pregnancy. Unfortunately, it is very difficult to obtain necessary amount of foetus?s cells because of the danger it can bring to a baby. What is more, this examination is not 100% certain because of the number of mutations CF virus may have. What examination should be done in order to check whether you are a carrier of a mucoviscidosis gene? Carrier state testing are based on identification of a CF gene?s mutation. It is carried out by a blood test of all family members of the sick person. When it comes to the patient?s siblings, there is 50% chance he or she is a carrier of a CF gene. Do carriers of mucoviscidosis genes suffer from any symptoms of the sickness? Carriers of cystic fibrosis do not suffer from any symptoms of the sickness. These people are called silent carriers. What is the risk of giving birth to a child with cystic fibrosis? It is estimated that 1 out of 25 Polish citizens is a carrier of a gene determining activation of cystic fibrosis called CFTR (cystic fibrosis transmembrane conductance regulator). Will children of people suffering from mucoviscidosis be always sick? 98% of sick men are infertile, but they may be helped with modern reproductive techniques. That is why, there is a huge chance for them to become a father thanks to the latest medical developments. In women, fertility is decreased secondary to viscid cervical secretions, although many women with CF have carried pregnancies to term. However, the incidence of maternal complications and preterm births is increased. If one parent is not a carrier, there are no worries--there is a 50% chance each of the kids will be carriers and all will be healthy. If a parent is a carrier, then there is a 25% chance that a couple that are both carriers will have a child with CF, and a 50% chance that the child will be a healthy carrier (and a 25% chance that they will not have the problem at all). What are the symptoms of mucoviscidosis?
90% of people with CF note symptoms connected with
respiratory system: thick and sticky mucus, builds up in your lungs and
blocks the airways and results in cough and difficulties with breathing
(first symptoms may appear at a very early age), recurring bronchitis
and pneumonia. CF may develop overgrowth of the nasal tissue (nasal
polyps) which occur in majority of sick adults and adolescents. Can you Get infected with CF from someone else? No. cystic fibrosis is a genetic disease, with which a human is born. No patient can infect anyone else with his or her illness. A child with CF does not pose any threat to other children at school. Can you be sick with cystic fibrosis without being aware of it? Such situation is possible, although not very common. It may happen in mild forms of the illness, which are much more difficult to be diagnosed because they can be easily confused with different respiratory and digestive systems? ailments. Very often cystic fibrosis is mistaken with asthma and allergy. What is the life expectancy of patients with CF? It is very difficult to estimate the exact life expectancy of people suffering from cystic fibrosis because all cases differ. Obeying doctor?s tips and recommendations, rehabilitation and inhalations may prolong patients? lives. In the past, the life expectancy of a person with cystic fibrosis was around 10 years. Today it is 35 years and more. Unfortunately there is no effective cure for this illness. How is cystic fibrosis treated? Treatments for cystic fibrosis are intended to help prevent and control lung infections. Treatments are also used to loosen thick mucus and remove it from the lungs, prevent intestinal blockages, and help the patient absorb an adequate level of nutrition. To this end, antibiotics are often prescribed, as well as exercise, physical therapy, and other medications. s part of treatment, individuals with cystic fibrosis must follow a high-calorie diet. This is typically supplemented with vitamins (especially A, D, E, and K) and medications that help the body absorb nutrients. In fact, some cystic fibrosis patients consume more than 20 vitamins and medications per day. Additionally, a variety of medications are taken to prevent infections, ease breathing, thin mucus, and reduce inflammation. Costs of the treatment may differ. Nevertheless, all costs can be estimated from 800 PLN to 3000 PLN every month. What should I do if suspect my child of suffering from cystic fibrosis? You should immediately contact your doctor or healthcare professional to do quantitative pilocarpine iontophoresis sweat test. Where is the best place to do the medical examination and tests? The full list of medical centers is available on our site. If you have any doubt, contact our Foundation directly. Our worker will help you. Should screening examinations of newborn infants be understood always 100 % certain and definite? As any other laboratory test, sweat tests are rarely 100% certain. That is why, if you are unsure whether your child?s tests were done properly, consult your medical advisor and ask for a repeat. A child should be under constant medical observation. |