Meet beautiful, brave, tough-as-nails London (aka "LuLu"). She's been fighting Alpha 1 Anitrypsin Deficiency since birth. It's a genetic disease that causes liver disease and sometimes lung disease later in life.
She received a new, clean, healthy, pink, perfect, beautiful liver January 15th 2010 thanks to the generocity of a family willing to donate their childs organs to give life to others. She is LuLu's Angel.
We thank every person who takes the time to look at LuLu's blog. I am so happy that many now know what Alpha-1 is. I am grateful that some may change their veiws on organ donation because of London's life that she's been living with such dignity, strength and grace.
Feel free to email me, elizabethbarnum(at)hotmail(dot)com with questions or comments.
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. (lulu is ZZ)
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 build up 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.
The most common signs and symptoms of disease caused by Alpha-1 are: Shortness of breath, wheezing, chronic cough and sputum (phlegm) production (chronic bronchitis) reacurring chest colds, eyes and skin turning yellow (jaundice), swelling of the abdomen (ascites) or legs, vomiting blood (from enlarged veins in the esophagus or stomach) decreased exercise tolerance, non-responsive asthma or year-round allergies, unexplained liver problems or elevated liver enzymes and bronchiectasis.
Alpha-1 has been identified in virtually all populations and ethnic groups. It is estimated that about 1 in every 2,500 Americans have Alpha-1. Individuals with Alpha-1 may remain healthy throughout their lives. Early diagnosis and avoidance of risk factors such as cigarette smoking, can help prevent Alpha-1 from causing disease. An estimated 20 million people have one normal and one defective AAT gene. People with one normal gene and one defective gene (for example MZ) are called “carriers”. (james and liz) Carriers may pass the defective gene on to their children. Alpha-1 can lead to lung destruction and is often misdiagnosed as asthma or smoking-related Chronic Obstructive Pulmonary Disease (COPD). Alpha-1 can’t be diagnosed by symptoms or by a medical examination; you need to get a blood test to know for sure. Alpha-1 is the most common known risk factor for emphysema and COPD. About 3% of all people diagnosed with COPD may have undetected Alpha-1. Alpha-1 can lead to liver disease. The most serious liver diseases are cirrhosis and liver cancer. The World Health Organization (WHO), American Thoracic Society (ATS), and the European Respiratory Society (ERS) recommend that all individuals with COPD be tested for Alpha-1.
What does YOUR liver do for you?
How important is the liver? The liver is a vital organ. Without it we would not be able to live. Apart from the brain, it is the most complex organ in the body. It has a wide range of functions and acts very much like a factory. One of its most amazing features is its regenerative power. Some 9/10ths of the liver can be cut away and provided the remaining 1/10th is healthy, the liver will grow back to its original size.
The liver is a processor The food that we eat passes into the stomach via the esophagus (gullet). The food is broken down by the action of the stomach and the small intestine. The nutrients from the food are then absorbed into the blood via the vessels in the walls of the intestines. These drain to veins which lead into the portal vein which carries the blood into the liver. The nutrients are processed in many different ways in the liver. This processing of the food is known as metabolism. The final products made are used by the body for energy and growth.
The liver is a manufacturer The liver produces a number of different substances which are vital in order for healthy growth and development. For example: 1. The liver cells produce substances which assist with the clotting of the blood, e.g.Prothrombin. 2. The liver cells make proteins which are carried in the blood. These have many functions. Albumin, for example, helps to control the distribution of fluid in all parts of the body and transports many substances to and from the liver and kidneys to other parts of the body.
The liver is a storage depot The liver stores energy in the form of glycogen (sugar). It also stores a number of other substances, e.g. copper, iron and vitamins.
The liver is a controller The liver plays an important part in controlling: 1. The correct level of many hormones within the body. 2. The blood sugar (glucose) levels. The liver stores glucose in the form of glycogen when there is too much glucose in the blood and releases it when the blood sugar level falls. 3. The amount of fluid the body retains and its distribution throughout the body. 4. The concentration of cholesterol which it converts into bile salts. 5. The action of many drugs
The liver is a filter The liver removes many unwanted substances from the body. It plays an important role in controlling the harmful effects of some drugs and products of metabolism by changing them chemically before excreting them into the bile. Bilirubin (unconjugated or indirect) is produced when old red blood cells break down. The average life of a healthy red blood cell is 120 days. This bilirubin is carried in the blood stream, attached to albuimin, to the liver where it is altered into a different form (conjugated or direct bilirubin) which is then: 1. Excreted in the bile. 2. Transferred into the bile which passes via the bile ducts into the intestine and appears as brown pigment in the stool. Bile is continuously produced by the liver cells mainly by the action of bile salts. It collects in and passes out through the network of bile ducts into the intestine. Bile salts play an important role in the digestion of fats.
The liver is a defender The liver plays an important role in fighting many types of infection. In particular, protects the body against infection which arises in the gut. With so many different and complex functions, it is not surprising that more than 100 types of liver diseases have been identified in babies and children.