Cystic Fibrosis and the Risks of Misdiagnosis

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What is Cystic Fibrosis?

Cystic fibrosis is a hereditary disease in which mucus glands produce abnormal secretions in the lungs and digestive system. Normally mucus is slippery and lubricated and protects the lining of various organs and tissues, but with cystic fibrosis, the body produces thick and sticky mucus that can clog the lungs and obstruct the pancreas. This obstruction can result in tissue and organ damage, most typically in the lungs and digestive tract. Unfortunately, cystic fibrosis can be life-threatening and people with the condition tend to have a shortened life expectancy.

A simple blood or saliva test either before conception or during pregnancy can determine whether either parent carries the gene for cystic fibrosis. People who simply carry the cystic fibrosis gene do not have the disease or any symptoms, but they can pass the gene for the disease to their children. Unless both parents have the gene, their child cannot inherit the disease. However, if both parents carry the gene, there is a 25% chance that their child will suffer from the disease.

Prenatal Diagnosis of Cystic Fibrosis

A careful history should be taken from all pregnant women seeking to identify risk factors for genetic disorders, including cystic fibrosis. Information should include the health status and presence of genetic disorders or carrier status of parents and relatives, as well as inquiry into ethnic background. According to the American College of Obstetricians and Gynecologists, all pregnant women should be offered cystic fibrosis carrier testing, regardless of ethnicity, to avoid the potential misdiagnosis of cystic fibrosis.

Legal Action for Cystic Fibrosis Misdiagnosis

In order to recover, parents generally must prove that a medical provider’s negligence prevented them from learning that there was an increased risk that the fetus had a significant birth defect or disease, such as cystic fibrosis. A misdiagnosis of cystic fibrosis during pregnancy can prevent families from receiving crucial information needed to make important decisions about their child’s health and future. They must also establish that they would likely have terminated the pregnancy had they been advised of the problem. In doing so, they are not in any way calling into question their love and devotion to their child – that relationship has already been established and will continue forever. Instead, they are merely acknowledging that if told of the defect or disease during the pregnancy, they would have likely chosen not to undertake the financial and emotional issues involved in parenting a child with a significant lifelong disease or disability.

The New Jersey Supreme Court has held that if a prenatal misdiagnosis claim is established, the negligent medical provider must provide compensation for the extraordinary expenses related to the child’s condition over the child’s lifetime. In addition, compensation must be provided to the parents for any emotional injury experienced in parenting a child with special needs.  Prenatal misdiagnosis claims – which are sometimes referred to as “wrongful birth” cases – are permitted to varying degrees in some states, and are not permitted in other states.  The law firm of Weiss & Paarz works with top rated medical malpractice law firms nationwide in pursing cases.

Cystic Fibrosis Screening Medical Malpractice: Next Steps

Cystic fibrosis can vary greatly in severity, with symptoms ranging from mild to severe and debilitating. The expenses involved in making sure a child with cystic fibrosis gets the best medical care possible over the course of that child’s lifetime can be enormous. There may be a significant difference in the treatment and services that private medical insurance, a public school system, or such programs as Medicaid will cover, and the most desirable state of the art treatment. If your child has cystic fibrosis, and you did not learn of this diagnosis in time to exercise a choice as to whether to continue the pregnancy, you may be entitled to compensation. Proceeding with a claim may be the only way to ensure your child has the financial resources to access the best available care.

Collectively, New Jersey medical malpractice lawyers Michael L. Weiss, Esq. and Robert E. Paarz, Esq. have presented over 30 prenatal misdiagnosis cases to juries, and have helped many families obtain the financial assistance needed to lessen or eliminate the financial burden caused by birth defects and genetic diseases. They are committed to using their knowledge and experience to help families that have been negligently deprived of their constitutional right to choose whether to continue a pregnancy involving an affected fetus obtain fair compensation.   Although based in New Jersey, the firm affiliates with top rated medical malpractice law firms nationwide in pursuing cases.

If you would like to discuss the possibility of pursuing a claim, please contact cystic fibrosis attorneys at Weiss & Paarz, P.C., today.

More Information on Cystic Fibrosis and Medical Malpractice:

Yes, a cystic fibrosis (CF) diagnosis can sometimes be incorrect, especially in newborn screenings. While the test may show an abnormal result, follow-up tests such as the sweat test are essential to confirm a diagnosis. A false positive can occur when the child is a carrier of the CF gene but does not have the disease. In these cases, the child might have elevated immunoreactive trypsinogen (IRT) levels but will not display the clinical symptoms of cystic fibrosis. Therefore, it’s important to conduct further testing for an accurate diagnosis.

Several conditions can mimic the symptoms of cystic fibrosis, leading to a potential misdiagnosis. Diseases like Hirschsprung’s disease, asthma, chronic bronchitis, and primary ciliary dyskinesia present with similar respiratory and gastrointestinal issues. Additionally, conditions like protein-calorie malnutrition, celiac disease, and immunodeficiencies can also cause comparable symptoms, making it crucial for healthcare providers to rule out these possibilities through comprehensive testing.

Yes, although rare, cystic fibrosis can be misdiagnosed, particularly in cases where symptoms overlap with other respiratory or gastrointestinal disorders. A misdiagnosis might occur if genetic testing or sweat tests are incorrectly interpreted or if clinical symptoms are atypical. In some cases, a child may initially be diagnosed with CF but later have that diagnosis withdrawn after additional testing reveals the true condition.

A differential diagnosis for cystic fibrosis includes a range of conditions that can present similar respiratory and digestive symptoms. These include asthma, chronic bronchitis, primary ciliary dyskinesia, emphysema, and interstitial lung diseases. Other conditions like Kartagener syndrome, bronchiectasis, and congenital abnormalities such as biliary atresia should also be considered. Detailed testing, including genetic analysis and sweat tests, are essential to accurately differentiate CF from these other conditions.

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