Which would the nurse explain to parents about the inheritance of cystic fibrosis
Abstract Objective: A survey was conducted to estimate how many adult patients with cystic fibrosis who receive care at centers accredited by the Cystic Fibrosis Foundation (CFF) also have biological children with the disease. Methods: A six-item questionnaire was sent to 144 CFF-accredited care centers and satellites. After one month, a reminder e-mail was sent to the nonresponding centers. Results: A total of 119 responses were received. Forty (34%) of the responding centers reported having at least one and as many as five patients with cystic fibrosis who also had biological children with the disease. A total of 66 such patients were identified. Of these, 39 (59%) were newly diagnosed themselves as a consequence of prenatal testing or a child's diagnosis. Conclusion: Despite some study limitations, these findings show that a number of people with cystic fibrosis are having children who also have the disease. Moreover, many parents are learning that they have cystic fibrosis only after their child is diagnosed. Further research is needed to better estimate both the proportion of adults with cystic fibrosis who are having children with the disease and the proportion late-diagnosed, as well as to explore the psychosocial needs of these patients and their children. Show
Journal Information The American Journal of Nursing (AJN) is the oldest and largest circulating nursing journal in the world. The Journal's mission is to promote excellence in professional nursing, with a global perspective, by providing cutting edge, evidence-based information that embraces a holistic perspective on health and nursing. Clinical articles focus on acute care, health promotion and prevention, rehabilitation, emergencies, critical care, home health care, etc. Columns present additional perspectives on clinical care, such as ethics, the law, practice errors, pain and symptom management, and professional issues. Publisher Information Wolters Kluwer Health is a leading provider of information for professionals and students in medicine, nursing, allied health, pharmacy and the pharmaceutical industry. Major brands include traditional publishers of medical and drug reference tools and textbooks, such as Lippincott Williams & Wilkins and Facts & Comparisons; electronic information providers, such as Ovid Technologies, Medi-Span and ProVation Medical; and pharmaceutical information providers Adis International and Source®. Wolters Kluwer Health is a division of Wolters Kluwer, a leading multi-national publisher and information services company with annual revenues (2005) of €3.4 billion and approximately 18,400 employees worldwide. Wolters Kluwer is headquartered in Amsterdam, the Netherlands. Its depositary receipts of shares are quoted on the Euronext Amsterdam (WKL) and are included in the AEX and Euronext 100 indices. Rights & Usage This item is part of a JSTOR Collection. DiagnosisCystic fibrosis FAQsPulmonologist Sarah Chalmers, M.D., answers the most frequently asked questions about cystic fibrosis.
Hello. I'm Dr. Sarah Chalmers, a pulmonologist at Mayo Clinic. And I'm here to answer some of the important questions you may have about cystic fibrosis. Just because your baby's newborn screen came back positive does not mean that your baby has cystic fibrosis. Most babies who have a positive screening actually don't have CF. The newborn screen looks at a substance in the blood that is elevated in cystic fibrosis, but it can be elevated in other conditions as well, even premature birth. Some states also test for a gene mutation, but even if this comes back positive, it doesn't mean your baby has the disease. People with only one mutation are called carriers. It's very common in the United States and one in 20 people are CF gene mutation carriers. If your baby has a positive cystic fibrosis screen, they will need to see their doctor and have a sweat chloride test to see if they do have cystic fibrosis. CF gene mutations are actually passed from parent to children in a specific pattern called autosomal recessive. Each parent passes one CF gene to their child, and therefore each person has two CF genes. To get the disease, both genes have to have a mutation. People with one CF gene are called carriers. If a parent is a carrier, there's a 50 percent chance they'll pass on the gene with a mutation to their child. If both parents pass on a normal gene, or only one parent passes a gene with a mutation, the child will not have CF. If both parents pass on a gene with a mutation, then the baby will have two genes with the mutation and will likely get the disease. If both parents are CF mutation carriers, there's a 25 percent chance that each one of their babies will be born with cystic fibrosis. So both males and females can get cystic fibrosis. But females tend to have more symptoms, more lung infections, and they tend to start these symptoms of infections earlier in life as compared to males. No one knows for sure why this is so. Actually, nearly 10 percent of cases of CF are diagnosed in adulthood. You're born with cystic fibrosis, but there are several reasons why it may not be diagnosed during childhood. Prior to 2010, some states didn't even screen for cystic fibrosis. So if you were born before 2010, you may not have received a newborn screening test for cystic fibrosis as a baby. Some gene mutations cause very mild disease and symptoms may go unnoticed until adulthood. CF symptoms, how the disease affects the patient's organs and how it impacts their life is very different from one person to the next. Some people have very mild disease with only one organ affected and very few symptoms, while others have more severe disease with troublesome symptoms and multiple organs that are affected. Many factors including gene mutation type determine the impact on the patient. But your cystic fibrosis care team can work with you as an individual patient to create a personalized treatment plan that meets your individual needs. Fertility is affected in both men and women with cystic fibrosis. Women with CF have thicker cervical mucus and they may also have irregular menstrual cycles. So it may take longer for women with CF to become pregnant. But most can become pregnant, have a normal pregnancy and a normal delivery. Almost all men with CF have infertility. Men with CF make normal sperm, but the sperm canal is absent. Because they still make sperm, assisted reproductive technologies can be used to help male CF patients have biologic children. Whether your children get CF or not depends on the combination of genes passed on from you and your significant other and can range from zero chance if neither parent has a gene mutation to a near 100% chance if both parents have CF. Always be honest with your health care team. Let us know which medications you're taking and how often you're doing your treatments. Write down your questions before you come to your appointment so that we can make sure that we are meeting your needs. Thanks for your time. And we wish you well. To diagnose cystic fibrosis, doctors typically do a physical exam, review your symptoms and conduct several tests. Newborn screening and diagnosisEvery state in the U.S. now routinely screens newborns for cystic fibrosis. Early diagnosis means that treatment can begin immediately. In one screening test, a blood sample is checked for higher than normal levels of a chemical called immunoreactive trypsinogen (IRT), which is released by the pancreas. A newborn's IRT levels may be high because of premature birth or a stressful delivery. For that reason, other tests may be needed to confirm a diagnosis of cystic fibrosis. To evaluate if an infant has cystic fibrosis, doctors may also conduct a sweat test once the infant is at least 2 weeks old. A sweat-producing chemical is applied to a small area of skin. Then the sweat is collected to test it and see if it's saltier than normal. Testing done at a care center accredited by the Cystic Fibrosis Foundation helps ensure reliable results. Doctors may also recommend genetic tests for specific defects on the gene responsible for cystic fibrosis. Genetic tests may be used in addition to checking the IRT levels to confirm the diagnosis. Testing of older children and adultsCystic fibrosis tests may be recommended for older children and adults who weren't screened at birth. Your doctor may suggest genetic and sweat tests for CF if you have recurring bouts of an inflamed pancreas, nasal polyps, chronic sinus or lung infections, bronchiectasis, or male infertility. TreatmentThere is no cure for cystic fibrosis, but treatment can ease symptoms, reduce complications and improve quality of life. Close monitoring and early, aggressive intervention is recommended to slow the progression of CF, which can lead to a longer life. Managing cystic fibrosis is complex, so consider getting treatment at a center with a multispecialty team of doctors and medical professionals trained in CF to evaluate and treat your condition. The goals of treatment include:
MedicationsOptions include:
Medications that target genesFor those with cystic fibrosis who have certain gene mutations, doctors may recommend cystic fibrosis transmembrane conductance regulator (CFTR) modulators. These newer medications help improve the function of the faulty CFTR protein. They may improve lung function and weight, and reduce the amount of salt in sweat. The FDA has approved these medications for treating CF in people with one or more mutations in the CFTR gene:
A milestone treatment for CFTim Myer has lived with cystic fibrosis (CF) his whole life. He was awaiting a lung transplant when a new medication approved by the Food and Drug Administration changed everything. Myer and Dr. Mark Wylam, a Mayo Clinic pulmonologist who is Myer's physician, share the remarkable story. Mayo Clinic Q&A podcastDoctors may conduct liver function tests and eye exams before prescribing these medications. While taking these drugs, testing on a regular basis is needed to check for side effects such as liver function abnormalities and cataracts. Ask your doctor and pharmacist for information on possible side effects and what to watch for. Keep regular follow-up appointments so your doctor can monitor you while taking these medications. Talk to your doctor about any side effects that you experience. Airway clearance techniquesVest therapyUsing a personalized approach, a Mayo Clinic respiratory therapist discusses inflatable vest therapy with an adult who has cystic fibrosis. Airway clearance techniques — also called chest physical therapy (CPT) — can relieve mucus obstruction and help to reduce infection and inflammation in the airways. These techniques loosen the thick mucus in the lungs, making it easier to cough up. Airway clearing techniques are usually done several times a day. Different types of CPT can be used to loosen and remove mucus, and a combination of techniques may be recommended.
Your doctor will instruct you on the type and frequency of chest physical therapy that's best for you. Pulmonary rehabilitationYour doctor may recommend a long-term program that may improve your lung function and overall well-being. Pulmonary rehabilitation is usually done on an outpatient basis and may include:
Surgical and other proceduresOptions for certain conditions caused by cystic fibrosis include:
Clinical trialsExplore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this condition. Lifestyle and home remediesYou can manage your condition and minimize complications in several ways. Pay attention to nutrition and fluid intakeCystic fibrosis can cause malnourishment because the enzymes needed for digestion can't reach your small intestine, preventing food from being absorbed. People with CF may need a much higher number of calories daily than do people without the condition. A healthy diet is important to growth and development and to maintain good lung function. It's also important to drink lots of fluids, which can help thin the mucus in your lungs. You may work with a dietitian to develop a nutrition plan. Your doctor may recommend:
Keep vaccinations up to dateIn addition to receiving other usual childhood vaccines, people with cystic fibrosis should have the annual flu vaccine and any other vaccines their doctors recommend, such as the vaccine to prevent pneumonia. CF doesn't affect the immune system, but children with CF are more likely to develop complications when they become sick. ExerciseRegular exercise helps loosen mucus in your airways and strengthens your heart. Because people with cystic fibrosis are living longer, maintaining good cardiovascular fitness for a healthy life is important. Anything that gets you moving, including walking and biking, can help. Eliminate smokeDon't smoke, and don't allow other people to smoke around you or your child. Secondhand smoke is harmful for everyone, but especially for people with cystic fibrosis, as is air pollution. Encourage hand-washingTeach all the members of your family to wash their hands thoroughly before eating, after using the bathroom, when coming home from work or school, and after being around a person who is sick. Hand-washing is the best way to protect against infection. Attend medical appointmentsYou'll have ongoing care from your doctor and other medical professionals.
Coping and supportIf you or someone you love has cystic fibrosis, you may experience strong emotions such as depression, anxiety, anger or fear. These issues may be especially common in teens. These tips may help.
Preparing for your appointmentMake an appointment with your doctor if you or your child has signs or symptoms common to cystic fibrosis. After the initial evaluation, you may be referred to a doctor trained in evaluating and treating CF. Here's some information to help you prepare for your appointment, as well as what to expect from your doctor. What you can doYou may want to prepare answers to these questions:
What to expect from your doctorAfter getting detailed information about the symptoms and your family's medical history, your doctor may order tests to help with diagnosis and plan treatment. Nov. 23, 2021 When a child has cystic fibrosis What is the psychosocial effect on the family?The emotions that parents of children with CF feel can be overwhelming. Common reactions include guilt that your child inherited CF from you, worry and fear about their future and resentment for the time and attention that a child with CF needs.
How is the family of a person with cystic fibrosis affected?Caring for anyone with a long-term disease — especially if that person is your child — is stressful. Parents of children with cystic fibrosis are more likely to experience anxiety, depression, or both compared to parents in general.
How does cystic fibrosis affect a child's development?Trouble with physical development, growth, and gaining weight is one of the most common problems children with cystic fibrosis face. Growing requires extra energy and nutrients in any child, but children with CF need extra calories (energy) to breathe and fight infections.
Can a person with cystic fibrosis have a child?It can take more time for women with cystic fibrosis to become pregnant than women without CF. Most women with CF are able to become pregnant and achieve a normal pregnancy. Your obstetrician. should be able to help you understand your reproductive health to help you make the right family planning decisions.
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