What is a cystic fibrosis carrier? Cystic fibrosis is an inherited disease that affects the glands that make mucus and sweat. Children may be born with cystic fibrosis if each parent carries one faulty gene for the disease. Someone with one normal CF gene and one faulty CF gene is known as a cystic fibrosis carrier. You can be a carrier and not have the disease yourself. Many women find out they are carriers when they become, or are trying to become, pregnant. If their partner is also a carrier, their child may be born with the disease.
If you and your partner are both carriers, you will likely want to understand how likely it is that your child will be born with cystic fibrosis. When two CF carriers have a baby, there is a 25 percent chance that their baby will be born with the disease and a 50 percent chance that their baby will be a carrier of a CF gene mutation, but not have the disease themselves. One in four children will neither be carriers nor have the disease, therefore breaking the chain of heredity. Many carrier couples decide to undergo a genetic screening test on their embryos, called preimplantation genetic diagnosis (PGD). This test is done prior to pregnancy on embryos acquired through in vitro fertilization (IVF). In PGD, one or two cells are extracted from each embryo and analyzed to determine if the baby will:
The removal of cells does not adversely affect the embryos. Once you know this information about your embryos, you can decide which to have implanted in your uterus in the hopes that a pregnancy will occur. Women who are carriers of CF do not experience infertility issues because of it. Some men who are carriers have a specific type of infertility. This infertility is caused by a missing duct, called the vas deferens, which transports sperm from the testicles into the penis. Men with this diagnosis have the option of having their sperm recovered surgically. The sperm can then be used to implant their partner through a treatment called intracytoplasmic sperm injection (ICSI). In ICSI, a single sperm is injected into an egg. If fertilization occurs, the embryo is implanted into the woman’s uterus, through in vitro fertilization. Since not all men who are carriers of CF have infertility issues, it is important that both partners get tested for the defective gene. Even if both of you are carriers, you can have healthy children. Many CF carriers are asymptomatic, meaning they have no symptoms. Approximately one in 31 Americans is a symptomless carrier of a defective CF gene. Other carriers experience symptoms, which are usually mild. Symptoms include:
Cystic fibrosis carriers are found in every ethnic group. Following are estimates of the CF gene mutation carriers in the United States by ethnicity:
Regardless of your ethnicity or if you have a family history of cystic fibrosis, you should get tested. There’s no cure for cystic fibrosis, but lifestyle choices, treatments, and medications can help people with CF live full lives, despite the challenges they face. Cystic fibrosis primarily affects the respiratory system and digestive tract. Symptoms can range in severity and change over time. This makes the need for proactive treatment and monitoring from medical specialists especially important. It’s crucial to keep immunizations up-to-date and to maintain a smoke-free environment. Treatment typically focuses on:
Doctors often prescribe medications to achieve these treatment goals, including:
Other common treatments include bronchodilators, which help keep airways open, and physical therapy for the chest. Feeding tubes are sometimes used overnight to help assure adequate calorie consumption. People with severe symptoms often benefit from surgical procedures, such as nasal polyp removal, bowel blockage surgery, or lung transplant. Treatments for CF continue to improve and with them so does the quality and length of life for those who have it. If you’re hoping to be a parent and find out you’re a carrier, it’s important to remember that you have options and control over the situation. The American Congress of Obstetricians and Gynecologists (ACOG) recommends offering carrier screening for all women and men who wish to become parents. Carrier screening is a simple procedure. You will need to provide either a blood or saliva sample, which is acquired via a mouth swab. The sample will be sent off to a lab for analysis and provide information about your genetic material (DNA) and will determine if you carry a mutation of the CF gene. Page 2Today, people with cystic fibrosis are living longer and better, thanks to treatment advances. By following the plan your doctor recommends, you can keep your symptoms at bay and stay more active. As you formulate your treatment plan and get started on therapy, here are nine things to know. Cystic fibrosis is a complex disease that involves multiple organs and body systems. Because of this, it requires a team approach to therapy. In addition to your doctor, a respiratory therapist, dietitian, physical therapist, nurse, and psychologist may be involved in managing your care. The sticky mucus in your lungs is the perfect breeding ground for bacteria. Lung infections can worsen your existing lung problems and possibly land you in the hospital. Oral or inhaled antibiotics will likely be part of your daily treatment regimen to avoid infections. It’s hard to breathe with so much sticky mucus plugging up your lungs. Medications like hypertonic saline and dornase alfa (Pulmozyme) are mucus thinners. As their name suggests, they make your mucus thinner and less sticky, so you can more easily cough it up. Your doctor might also recommend that you perform airway clearance therapy (ACT) to rid your lungs of mucus. You can do this in one of a few ways:
People with cystic fibrosis have mutations to the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene provides the instructions for a protein to make healthy, thin mucus that flows easily through the airways. Mutations in the CFTR gene lead to the production of a defective protein, which results in abnormally sticky mucus. A new group of drugs called CFTR modulators fix the protein made by some – but not all – CFTR gene mutations. These drugs include:
A gene test can determine which mutation you have and whether you’re a good candidate for one of these medications. Taking one of these drugs could help you maintain, or even improve, your lung function. The pancreas normally releases enzymes needed to digest food and absorb nutrients from it. In people with cystic fibrosis, thick mucus prevents the pancreas from releasing these enzymes. Most people with the disease need to take enzymes right before they eat to help their body absorb nutrients. You’ll use a nebulizer for breathing in medications that help keep your airways open. If you don’t clean this device correctly, germs can build up inside it. If those germs find their way into your lungs, you could get an infection. Each time you use your nebulizer, clean and disinfect it. You can:
Your doctor can give you specific instructions on how to clean it. When you have cystic fibrosis, you definitely don’t want to cut calories. In fact, you’ll need extra calories each day just to maintain your weight. Because you lack pancreatic enzymes, your body can’t get all the energy it needs from the foods you eat. Plus, your body is burning off extra calories from always coughing and having to ward off infections. As a result, women need 2,500 to 3,000 calories daily, while men need 3,000 to 3,700 calories. Get the extra calories from high-energy, nutrient-dense foods like peanut butter, eggs, and nutritional shakes. Supplement your three main meals with a variety of snacks throughout the day. Managing a disease like cystic fibrosis requires a lot of follow-up care. Expect to see your doctor every few weeks right after you’re diagnosed. As your condition gradually becomes more manageable, you may be able to stretch your visits to once every three months and eventually to once a year. During these visits, expect your doctor to:
Despite great advances in medical research, researchers still haven’t discovered a cure for cystic fibrosis. Yet, new treatments can:
Sticking to the therapies your doctor prescribes will give you the best medical advantages available to help you enjoy a longer, healthier life. Embarking on treatment for any disease can feel a little overwhelming. In time, you’ll get into the routine of taking your medications and performing techniques to clear the mucus from your lungs. Use your doctor and the other members of your treatment team as resources. Whenever you have questions or think you might need to change one of your treatments, talk with them. Never make changes to your regimen without your doctor’s OK. |
What is the probability of a couple having a child with cystic fibrosis CF disease if the mother carries the △ f508 gene and the father does not?
Related Posts
Copyright © 2024 ShotOnMac Inc.
