Cystic Fibrosis
Cystic fibrosis is an autosomal recessive trait on chromosome 7. This disorder affects chloride transport resulting in abnormal mucus production.
This lifelong illness usually gets more severe with age and can affect both males and females. Symptoms and severity differ from person to person. Cystic fibrosis is the most common fatal inherited disease among whites and the major cause of chronic lung disease in children. 50% of people are expected to live to be 30, but a majority die before age thirteen. 1:2000 whites have cystic fibrosis, 1:17000 blacks, 1:6000 live births, 1:2500 Americans, and 1:20 is a carrier. The genes are inherited in pairs, with one gene coming from each parent to make the pair. Cystic fibrosis occurs when both genes have mutations. A person with cystic fibrosis receives one cystic fibrosis gene from each parent.
The parents of a child, with cystic fibrosis, each carry one nonworking copy of the gene and one working copy of the gene. The parents are called cystic fibrosis carriers, and because they have one working gene they have no symptoms.
Carrier parents have 1:4 chance to have a child who is a noncarrier of cystic fibrosis, a 1:2 chance to have a child who carries the gene, and a 1:4 chance with each pregnancy to have an affected child. If you have a son or daughter with cystic fibrosis, then you have a 1:1 chance of being a carrier. If you have a brother or sister with CF, you have a 2:3 chance of being a carrier. If you have a niece or nephew with CF, you have a 1:2 chance of being a carrier. If you have an aunt or uncle with CF, you have a 1:3 chance of being a carrier and a 1:4 chance if you have a 1st cousin with CF.
Cystic fibrosis affects the lungs in particular. The secretions are thick and sticky rather than thin and watery. This interferes with the removal of dust and germs. It can lead to lung infections and even chronic lung damage.
Air passages become clogged with mucus and there is often widespread obstruction of the bronchioles. Expiration is especially difficult. More and more air becomes trapped in the lungs, which results in obstructive emphysema.
Atelectasis can occur leaving small areas collapsed. Eventually the chest assumes a barrel shape. The right ventricle, which supplies the lungs, may become strain...
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...gerate and be demanding for attention.
Parents may have knowledge deficit and may need a lot of teaching and explanation. One of the misconception parents have is that their child's intelligence is greatly decreased. Intelligence is not affected. Parents often feel guilty, since this is an inherited disease. The child spends the majority of his time at home due to this lengthy illness. The child is also hospitalized for complications although stays are short to prevent exposure to other infections and illnesses. This puts a financial, physical, and emotional burden on the family. When do the parents find time for each other, themselves, or other children? How do they distribute their time and energy equally and fairly? Parents need encouragement and reassurance. They also need explicit instructions. Parent groups can help along with the Nat'l CF Research
Foundation and the 1-800-FIGHT-CF hotline. Parents usually need help from a social worker and financial help for special equipment. Insist parents to get help from other family members or friends and encourage them to get away from it all periodically. Alarm clocks can remind them of medication times.
In any case, it might bring about different complications in the reproductive and musculoskeletal. For example, infertility in men and women and low bone density. Patients with cystic fibrosis frequently have lung diseases caused by germs that don't react to anti-biotics. Infections, for example, sinusitis, bronchitis, and pneumonia add to long term lung damage. Cystic Fibrosis also causes damage to the pancreas because the thick mucus blocks tubes, and ducts; preventing enzymes to reach the intestines. When this happens, the digestive system is unable to ingest fundamental fats and proteins causing diarrhea, serious constipation, and intestinal blockage. As CF worsens, more serious manifestations rise like bronchiectasis, pancreatitis, hepatopathy, and
CF is a chronic condition therefore the patients are either seeking medical attention or receiving (sometime involuntarily) a great deal of medical scrutiny and intervention during their lifetime.
As mentioned above, emphysema affects the alveoli. When you develop emphysema the symptoms may go unnoticed for many years. With emphysema, your alveoli lose their elasticity and that makes it harder for the body to dispel the carbon dioxide. Also, the alveoli will eventually rupture and develop into one larger air sac. (Mayo Clinic)
In the book it says "They can spend a whole lifetime worrying whether they 're carriers, and then we come along and offer them a test. Recessives and X-linked. Look what they 're doing with fragile-X nowadays. And cystic fibrosis. Just imagine the commercial possibilities if you can design and patent a probe for something like Gaucher 's disease...(69)" Recessive traits is the phenotype is seen only a homozygous recessive genotype for the traits of the interest is present. The booked talked about two of three diseases that are most common in the Ashkenazi Jewish population. The first one is Cystic fibrosis which is an inherited life-threatening disorder that effects the lungs and the digestive system. The other one mention in the book that wasn’t mention in class was Gaucher 's disease. Gaucher 's disease is a build up of fatty substances in your organs, usually in you spleen and liver. Which causes them to become bigger affecting their function. The last one that we learned in class was Tay-Sachs disease, which is a rare inherited disorder that destroys nerve cells in the brain and spinal
...rrier. There are available tests you can take to determine the possibility of your children receiving the disease.
Being diagnosed with a chronic illness is a life-altering event. During this time, life is not only difficult for the patient, but also for their loved ones. Families must learn to cope together and to work out the best options for the patient and the rest of the family. Although it may not be fair at times, things may need to be centered on or around the patient no matter what the circumstance. (Abbott, 2003) Sacrifices may have to be made during difficult times. Many factors are involved when dealing with chronic illnesses. Coping with chronic illnesses alter many different emotions for the patients and the loved ones. Many changes occur that are very different and difficult to get used to. (Abbott, 2003) It is not easy for someone to sympathize with you when they haven’t been in the situation themselves. No matter how many books they read or people they talk to, they cannot come close to understanding.
Genetic disorders can be caused by many of the 46 chromosomes in human cells. This specific disorder is linked to a mutation in the long arm of the X, or 23rd chromosome. The mutation is recessive, meaning a normal X chromosome can hide it. Females have two X chromosomes allowing them to hide the mutated recessive one, making them a carrier of the gene, while males only have one X chromosome, meaning that they are unable to hide the mutation and they become effected by the disease. Therefore if a male carries the gene, he is affected because he has no way of dominating the recessive gene, but if a female carries it, she is only a carrier and has a 50/50 chance of passing it on to her baby. This may seem like a high probability however, only one in every fifty thousand male births will have this immunodeficiency disease.
Cystic fibrosis is one of the most common lethal mutations in humans. The autosomal recessive allele is carried by 1/20 Caucasians, 1/400 couples will have children with the disease, and ¼ children will be afflicted. If untreated, 95% of affected ch ildren will die before age five (Bell, 1996).
Cystic Fibrosis is an inherited disease characterized by the buildup of thick, sticky mucous that can cause severe damage to the body’s organs. Mucous is usually a slippery substance that lubricates and protects the linings of the airway, digestive system, reproductive system and other organs and tissue. Problems with digestion can lead to diarrhea, malnutrition, poor growth, and weight-loss. Due to the abnormally thick mucous it can can clog airways, leading to breathing problems and bacterial infections in the lungs. Bacterial infections can lead to coughing, wheezing and inflammation. Overtime these infections can lead to permanent damage in the lungs including the formation of scar tissue, known as fibrosis and cysts in the lungs (Genetics Home Reference, 2013). The symptoms and signs of this disease vary but mostly include progressive damage to the respiratory system and chronic digestive system problems. An individuals’ lungs who are infected by cystic fibrosis have bacteria from an early stage. This bacteria can spread to the small airways, leading to the formation of bacterial micro-environments known as biofilms. Biofilms are difficult for antibodies to penetrate, therefore the bacteria repeatedly damage the lung and gradually remodel the airways, resulting in difficultly to eradicate the infection (Welsh, 1995). Cystic fibrosis patients may even have their airways chronically colonized be filamentous fungi and/or yeasts. Most men with cystic fibrosis have congenital bilateral absence of the vas deferens (CBAVD), a condition in which the tubes that carry sperm are blocked by mucous and do not develop properly. As well, women may experience complications in pregnancy. Either the c...
What not to do: Don’t try to be their healer – medical care is difficult and you have got enough to deal with as their friend, partner or relative. Expect them to stop overnight, it's hard and takes time and energy, but it is worth it in the end. React powerfully, with anger, hurt, or upset, this is often possible to make them feel worse. Speak honestly concerning the impact it has on you, however try this sedately and in a way that shows them how much you care. Make them promise not to do it again.
This couple has discussed their concerns involving the genetic possibility of their children having cystic fibrosis since a family member has this disorder.
of passing the gene to each child with each pregnancy. The sex of the child helps to determine the expression of the gene. There is a 3-4 times more chance of a son having the gene than a daughter. Only about 10% of TS patients get severe enough to
second, prenatal testing, is a testing of a fetus at risk for the disease. The
causes many respiratory diseases (http://www.thetruth.com/issues/tbtc/behind.cfm).