It is possible in most cases to diagnose cystic fibrosis within a matter of days after birth. This is important, as a child’s chances of living a healthy life dramatically improve if cystic fibrosis is diagnosed and treated early on.
If caught early enough, cystic fibrosis is usually treatable. Problems can arise in cases where medical mistakes result in delayed diagnosis or treatment. When untreated, cystic fibrosis can have permanent consequences for a child.
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Understanding Cystic Fibrosis
Cystic fibrosis is a disorder inherited from one generation to the next. For a child to have the disease, it must inherit it directly from a parent who also carried it. Cystic fibrosis is rare. According to the National Human Genome Research Institute (NHGRI), approximately 30,000 people live with this disease throughout the United State at any given time.
While the disease itself is rare, the gene that passes cystic fibrosis is not. Countless Americans carry this gene along with the potential to pass it on to their children. According to Centers for Disease Control and Prevention (CDC), a person will be born with cystic fibrosis only if two cystic fibrosis genes are inherited.
The disease directly affects the mucus glands throughout the body. While the body produces mucus naturally to protect your lungs and digestive system, cystic fibrosis causes the body to create excess mucus. This abnormally thick mucus can have a wide range of effects on the body.
Cystic fibrosis frequently impacts the lungs. The excess mucus that comes with this condition can make the lungs difficult to clear, causing frequent lung infections. The disease also routinely impacts the digestive system. The excess mucus can make it difficult for the body to digest food and process the nutrients they take in. For newborns, this often leads to low weight and limited growth. It can also lead to fertility issues among male children.
Over time, mucus buildup can lead to widespread infections. In serious cases, cystic fibrosis can be fatal. The good news is that through early detection and regular care, most people with cystic fibrosis can live a healthy life.
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Diagnosing Cystic Fibrosis in Newborns
Diagnosing cystic fibrosis among infants typically starts with what is called the newborn screening. In the days following their birth and before they leave the hospital, a newborn will have their blood screened for an array of rare but serious conditions. Cystic fibrosis is one of the conditions included in the screening.
The screening is as simple as recovering a few drops of blood from the newborn. This blood is analyzed for a wide range of disorders. Once the lab checks the blood, the results are returned to the child’s healthcare provider.
If the initial screening raises any questions for the healthcare professional treating the child, they may order a diagnostic test. While the initial screening is a valuable part of the process, a targeted test will need to be done to confirm a child has cystic fibrosis.
There are two general types of tests used on infants to confirm the presence of cystic fibrosis. The first is known as a sweat test. This test requires a sample of the baby’s sweat. The lab will check the level of salt in the sweat, as high salt levels are a common indicator of cystic fibrosis. Often, the test will be repeated multiple times. The second type of test is a blood test. This test requires a larger sample of the child’s blood, but it can detect the presence of a cystic fibrosis gene in the child’s body.
There are signs and symptoms of cystic fibrosis that are useful in the diagnosis process. These symptoms include:
- Coughing due to mucus in the lungs
- Salty skin
- Low weight
- Constipation and bloating
- Nasal polyps
Cystic Fibrosis Treatment
A major part of treating cystic fibrosis involves addressing or preventing infections. Ultimately, it is infections in the lungs that are most likely to lead to long-term or permanent consequences for the child. Some of the methods of battling these infections include:
- Antibiotics. Antibiotics can directly combat certain infections.
- Saline. Inhaling hypertonic saline mist can thin the mucus in the lungs.
- Anti-inflammatory medicine. These drugs reduce swelling in the lungs, making it easier to breathe.
- Bronchodilators. Inhaled medicinal sprays that can relax airways, allowing air to flow.
When treatment for this disease is delayed, the damage done to the lungs can be severe. In the worst-case scenarios, these consequences can be fatal. In other cases, children will require lung transplants when their infections become life-threatening.
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The good news for parents is that cystic fibrosis can be diagnosed at birth and treated in short order. The bad news is that the failure to diagnose and treat this condition in a timely manner can have devastating health consequences for a child.
Unfortunately, the failure to timely treat cystic fibrosis often results from medical errors. Whether it is a misdiagnosis by the doctor or a record keeping mistake by the hospital, these errors can have fatal consequences. If your child is struggling with cystic fibrosis due to the negligence of a medical professional, contact the Birth Injury Lawyers Group right away at (800) 222-9529.