Answers - Not What We Wanted to Hear

 

Cindy finally received a diagnosis of the respiratory issues that she has had for quite some time.  Unfortunately, the news isn’t the best - She has a genetic disorder called Alpha-1. 

 This disorder can have significant effects on the liver and lungs. Hers is affecting her lungs and is the cause of the edema she was found to have.

 

 I know this news might be tough to hear as there is no cure for Alpha 1, but she is determined to take it one day at a time and together we will manage her condition with the help of her doctors. I'm grateful for the love and support of our family and friends during this time. Faith and a realistic approach to this situation will be our guide posts. 

 

 What is Alpha 1?

 Alpha 1-Antitrypsin Deficiency

Alpha 1-antitrypsin deficiency, commonly known as Alpha 1, is a genetic disorder that affects the liver and lungs. It is caused by a deficiency in the alpha 1-antitrypsin protein, which is produced in the liver and helps protect the lungs from damage. When there is not enough of this protein, it can lead to the development of lung and liver disease, which can be life-threatening.

Causes

Alpha 1 is caused by a mutation in the SERPINA1 gene, which provides instructions for making alpha 1-antitrypsin protein. This mutation can cause the protein to be misfolded, leading to a deficiency in the amount of functional protein that is produced. The disease is inherited in an autosomal codominant pattern, which means that a person can inherit one or two copies of the mutated gene from their parents. Those who inherit two copies of the mutated gene are more likely to develop severe symptoms.

Symptoms

Symptoms of Alpha 1 can vary widely, depending on the severity of the deficiency and the organs that are affected. The most common symptoms are related to lung disease, including shortness of breath, wheezing, and chronic obstructive pulmonary disease (COPD). Symptoms related to liver disease can include jaundice, fatigue, and swelling in the abdomen. In some cases, the disease may be asymptomatic, and individuals may only discover they have Alpha 1 after routine blood testing.

Diagnosis

Diagnosis of Alpha 1 typically involves blood tests to measure the levels of alpha 1-antitrypsin protein in the blood. Other tests, such as pulmonary function tests, liver function tests, and imaging studies, may also be used to evaluate the severity of the disease and monitor its progression.

Treatment

Treatment for Alpha 1 typically involves managing the symptoms and preventing further damage to the lungs and liver. This may include medication to relieve symptoms, such as bronchodilators and corticosteroids, as well as therapies to improve lung function, such as pulmonary rehabilitation. In some cases, individuals may also require oxygen therapy or a lung transplant. Treatment for liver disease may include medications to reduce inflammation and prevent further damage to the liver.

Conclusion

Alpha 1 is a genetic disorder that can have significant implications for lung and liver function. Early diagnosis and management of the disease are critical to prevent further damage and improve outcomes for individuals with the condition. With ongoing research and advances in genetic testing and treatment options, it is hoped that individuals with Alpha 1 can lead full and healthy lives.

Together, as we always are, we decided that we could reach more people by sharing this journey into the unknown via social media. Thank yo all for listening to our podcast and supporting Cindy as we move forward.

Please feel free to send a message of love, prayers, support, or encouragement to; apillowaway@gmail.com