Waiting

I don't like waiting. It's been about two months now, since we found out Jared needs a liver transplant. He has a "supposedly" rare genetic disorder called Alpha 1 Antitrypsin deficiency. He has the ZZ phenotype and it is destroyed his liver. I guess they call it rare because of the people that have this ZZ phenotype 95% of them have lung problems not liver. Anyway He has to get dental clearance before they will move ahead with putting him on the transplant list. He has 2 dentist appointments left, then we can move along. Well move along to more waiting......

Alpha-1 Antitrypsin Deficiency

Alpha 1 and a liver transplant

Jared is a 34 year old husband and father of four children. He comes from a family of ten siblings. Family is everything to him. Jared has been sick off and on for the last few years. He got really sick in February of 2010 while visiting family in Colorado. He went to the urgent care there and they did numerous tests and CT scans and found his liver and spleen to be much enlarged. The doctors told him and his wife that he may have Lymphoma. After returning home they saw his regular doctor and they did more blood work and CT scans and came to the conclusion that he had a virus called CMV. He seemed to be better after about a month. About the same time the following year he began having the same symptoms again. He went back to the doctor where more tests were given. Tests for the same virus came back negative so he was sent for more blood tests and CT scans. His liver and spleen were again much enlarged and they were told again that Lymphoma was a possibility. Jared was referred to a gastroenterologist who ordered more blood work and a Liver biopsy. Before the results came back the doctor stumbled onto something and immediately sent Jared for more blood tests and a chest x-ray. He found that Jared has a rare genetic disorder called Alpha 1 Antitrypsin deficiency (ZZ gene) and stage four cirrhosis of the liver. The only cure for Alpha 1 and liver disease is a liver transplant. After learning about the disease they had their family tested for it. Two of Jared’s sisters have the same disorder with the ZZ gene but are not showing any signs of liver or lung disease yet. Two of Jared’s children have the SZ genes, which puts them at risk for lung disease. Right now it is just an awareness issue with the children and they are taking precautions to avoid harmful substances that are harmful to the lungs. Right now the main focus is getting Jared a liver transplant. The cost for a liver transplant is about $500,000. While the family does have health insurance it will still be quite a financial burden, we anticipate the out of pocket costs to be approximately 20,000 the year he receives the transplant. The cost of the surgery is only the beginning. Prescription medications following the surgery are $120 per month after insurance pays. There are several medications Jared will have to take for the rest of his life so his body doesn’t reject the new liver. These medications will surpass the family’s annual deductible within the first few months each year.

Alpha 1 (ZZ) leads to emphysema in 95% of people with the disorder, only 5% get liver disease. Alpha 1 is often misdiagnosed for 7 years or more. Many people that have the disorder and have no idea it even exists. Awareness is the key, and a simple blood test is all it takes.

What is Alpha-1?

Alpha-1 Antitrypsin Deficiency (Alpha-1) is a condition that is passed from parents to their children through their genes. This condition may result in serious lung and/or liver disease at various ages in life. For each trait a person inherits, there are usually two genes and one gene comes from each parent. People with Alpha-1 have received two defective alpha-1 antitrypsin genes. One defective gene came from their mother and one from their father. There are many types of defective alpha-1 antitrypsin genes. The most common abnormal genes are called S and Z. Normal genes are called M. A person who does not have Alpha-1 will have two M genes (MM). People identified with Alpha-1 most commonly have two Z genes (ZZ). Current evidence suggests that there are about 100,000 people with Alpha-1 (ZZ) in the United States. Another deficient gene combination is SZ, although people with this gene combination are less likely to get lung or liver problems than those with two Z genes.

Alpha-1 occurs when there is a lack of a protein in the blood called alpha-1 antitrypsin or AAT that is produced by the liver. The main function of AAT is to protect the lungs from inflammation caused by infection and inhaled irritants such as tobacco smoke. The low level of AAT in the blood occurs because the AAT is abnormal and cannot be released from the liver at the normal rate. This leads to a buildup of abnormal AAT in the liver that can cause liver disease and a decrease of AAT in the blood that can lead to lung disease.

Governor, Gary Herbert of Utah has graciously proclaimed November 2011 as Alpha-1 Awareness Month. This is the 2nd year the Governor has issued a proclamation for the Alpha-1 Community