For patients, caregivers, healthcare providers, and anyone interested in learning more about liver diseases, there is a website called Focus.
This website is organized by CLDF, which stands for Childhood Liver Disease Foundation. The CLDF organization was originally funded in 1980 by parents who had a son who died from liver disease. This prompted them to create a UK-based charity that takes actions against the effects of childhood liver diseases, including alpha-1 antitrypsin deficiency (A1AD).
The FOCUS website provides information about the liver, liver diseases (including A1AD), what signs and symptoms to watch out for, and educational material about liver transplants. This website also offers ways to get involved by raising funds for research. They offer several events and programs including family days for those with liver disease and a National Conference in the summer of 2018.
They sometimes feature patient’s stories on the website and one in particular, written by the patient herself, is featured here.
Emma explains that when she was born, she was diagnosed with alpha-one antitrypsin deficiency. Alpha-1 antitrypsin deficiency (A1AD) is a genetic condition that is passed from parents to their children. The disease may result in serious lung disease in adults and potential liver disease at any age. Symptoms of A1AD include:
- Shortness of breath
- Chronic bronchitis
- Recurring chest colds
- Year-round allergies
- Rapid heartbeat upon standing
- Vision problems
Because of her diagnosis, Emma had to take medicine and make regular visits to hospital until she was eight years old. Despite all this, Emma recalls that her life was normal. When Emma was eight years old, she got sick with a dangerous infection called spontaneous bacterial peritonitis. This caused her liver’s condition to quickly deteriorate. Emma’s liver couldn’t fight off the infection. Because of her condition, Emma was finally put on a list to receive a liver transplant.
Over the next few months, Emma had a few instances where she rushed to the hospital expecting to undergo the transplant procedure only to learn that the liver she was supposed to have was not there or was not a match.
When she was age 9, a suitable match was finally made. She had an 8-hour operation and spent three weeks in the hospital post-surgery recovering, but everything went as planned. After her transplant, her health was stable. After three months of no school, she went back to school and she is now studying for a degree in Criminology at Lancaster University. Emma has also just completed one of her goals: running a 10k, which she did in less than an hour!
Emma has made great strides in her health and manages to live a normal, if not extraordinary, life with her condition. She has medicine that she takes every day and has hospital checkups every six months but she maintains that her life is happy and healthy and she looks forward to college.