USVI-On-Line

Hi everyone,
My grandson Luke who is two months old today has been diagnosed with Alpha One Antitrypsin Deficiency Liver Disease. At birth he was on the small side 6 lbs 4 oz and was jaundice immediately after birth. At six weeks the jaundice returned and my daughter brought him to a hospital in Florida. After a weeks stay many tests a biopsy and two radioactive HIDA scans we had them come back here to Boston and get a second opinion at Childrens Hospital. They diagnosed him with this hereditary disorder. His liver biopsy already shows signs of scarring and he may possibly need a liver transplant in the future. The University of South Carolina does free testing which we have already called for the kits to be delivered. Alpha One is the most misdiagnosed diseases. It shows up in adulthood as liver disease or enphysema. In 1993 my husbands father passed away at the age of 52 from Cirrosis of the liver. He was an alcoholic but I always felt that he was just so young to die like that. We think that he may have had this disease and they didnt diagnose it. My grandson Luke is a ZZ. Carrier's are MZ's or SZs. If you don't show the gene at all you are an MM. So both my daughter and her husband have to be MZ's or my daughter is a ZZ and has the disease which means that my husband possibly has it or is a carrier. They also have an almost 2 year old daughter Olivia that is going to be tested along with myself, my husband and three sons. Other family members too when we find out what side it is on. Here is the link if you want to learn more about it. Please keep Luke in your prayers. It is such a difficult time for us right now. She doesnt want to return to Tampa because the healthcare isn't close to what she is getting up here in Boston.
Thanks,
Julie

http://www.cincinnatichildrens.org/heal ... /alpha.htm

Thank you for sharing information on this disease and your family's experience.
I hope that all the tests come back with the best possible results. Childrens in Boston is one of the best, and Luke is fortunate to have the opportunity to be treated there.

Julie so sorry your family is going through this. This is a journey nobody wants to take. I am familiar with A1A and you are probably at the best possible hospital in the US for this. I think that all Jaundice babies should have the initial blood test to check for this. It is not Super expensive and could help. I realize that not all Jaundice babies have this but I have read that most people with A1A were Jaundice babies. I will keep Luke and your family in my prayers.