Yes. Although the complications of cystic fibrosis are treatable, and although the available treatments are helpful, the disorder shortens the normal life expectancy.
Life is different. 100% of people die. People with this condition have a variable life expectancy and face many more problems than the average person. Life includes close collaboration between docs at home and a specialty center. Life includes school, a profession, and many of the same challenges everyone else has. Whether they die in a car crash at 30 or from complications of the disease at 50, they do live a life.
Yes but. Yes but with early diagnosis and regular care and adherence to prescribed therapy by a pediatric pulmonologist the long term survival has improved greatly in the past two decades.
We all die. CF has a variety of traditional gene expressions and sub forms. Proper surveylance and treatment has increased the expected lifespan of patient by decades in the past 30 years. Life is certainly different for the involved patient & their families, but the reality is life can be full with this dx.
Yes. Although rare, infant deaths from CF do occur every year, either from bowel impact ion leading to perforation and sepsis or overwhelming respiratory infection.
Respiratiry failure. Usually progressive respiratory embarrassment from the primary disease. Some pts die of refractory infection as a consequence of cystic fibrosis. Malabsorption from cystic fibrosis may also contribute to mortality.
Respiratory failure. Most people with cystic fibrosis with end-stage/advanced lung disease tend to have chronic respiratory failure which can lead to their demise. All pulmonologists that take care of CF patients are aware of this & they can keep these patients comfortable with the use of several interventions and medications. Talk to your CF doctor regarding advance directives & palliative care options.
See below. Patients with cystic fibrosis often face the prospect of an early death. Physician's will do anything they can to make this event as comfortable as possible. If you have concerns then talk to your doctor about the future.
Certainly. Cystic Fibrosis (CF) most common life-limiting genetic disorder of Caucasians, affecting approximately 30K people in the US. A, impacting mainly respiratory function. In recent years patients symptoms better controlled by genetic findings and better medications. Emotional & phys. Development depend on severity, time in hospital, complications. Morb. & mort. Factors afect emotional, cognitive behavior.
As a carrier. Genetic carrier testing: more than 10 million americans are symptomless carriers of the defective CF gene. This blood test can help detect carriers, who could pass CF onto their children. To have cystic fibrosis, a child must inherit one copy of the defective CF gene from each parent.
Yes. Yes it is possible. Presentation of cystic fibrosis varies greatly, and it is possible, depending on your specific mutation (and other factors) to present at a later age. In order to prevent late diagnoses, all states now have a newborn screen in place for cystic fibrosis.
Yes. It is possible, although at 30 other causes of bronchiectasis and chronic cough should be considered as well (mycoplasma pneumonae, etc). If you have the classic pancreatic, bowel, and lung disease genetic testing is always worth considering.
Not likely. It is not likely. CF manifests during childhood, most often in infants, however, there are some forms of CF that are not diagnosed until later in adulthood (even though symptoms would have started in childhood). These particular forms of CF result in frequent sinus or upper respiratory infections, and can be incorrectly "written off" as chronic sinusitis or upper respiratory disease.
Yes. However, usually an adult who is diagnosed so late has usually had chronic problems with cough and "pneumonias". That said I've diagnosed a new case in a 38 year old woman.
What are the chances of a child getting cystic fibrosis among the different racial groups in the u.S.?
Overall 1/3700. Acording to the CF foundation: the overall birth prevalence is 1/3700. It can occur in any race, however the greatest incidence is in caucasians of northern european descent, being 1/2500. The other major groups affected are hispanics 1/13500, african americans 1/15000. More than 10 million of us carry one part of the defective gene, but to have the disease you must have a copy from both parents.
From 1 in 2000. For caucasians, the odds are 1 in 3500, and 1 in 20 parents are carriers of the gene. For hispanics 1 in 92-9500, for african americans 1 in 15-17, 000, for Asian americans 1 in 31, 000.