Today we received a new issue of Links For Life, The Newsletter of the Alagille Syndrome Alliance, and as always it was read from cover to cover. The newsletter has grown from its start 4 issues ago and was the fullest ever: more children and parent stories, exciting medical updates, itchy tips, a preview of the 4th annual Alagille Convention, birthdays and memorials, editorial comment, web fund-raising initiatives and new donation products to purchase. We love the fact that Sasha's birthday is recorded every year.
And there is big news in the world of Alagille. Finally, CLiC Centres are open for Study Enrollment of cholestatic liver disorders. Cholestasis is a condition where a paucity of bile ducts causes a decrease in bile flow from the liver to the intestine causing yellow eyes and skin (cholestatic jaundice), reduced birth weight, problems gaining weight and growing. Substances like bilirubin, bile salts, cholesterol and toxins that are normally eliminated in bile build up in the liver. The increased bilirubin causes jaundice, the build-up of bile salts in the skin often cause very annoying, sometimes severe itching that interferes with the child (and all the family's) sleep and scratching that can damage the skin. Too much cholesterol causes fatty deposits in the skin (xanthomas). Buildup of toxins and metals such as copper can cause liver damage. "In many patients, the symptoms of liver disease in AGS (jaundice and itching) actually stop getting worse and even improve after a few years of age. In others, the liver disease continues to get worse and may end up causing scarring of the liver (cirrhosis) or increased blood pressure in blood vessels going from the intestines to the liver (portal hypertension). If the liver disease is severe (as it is in 20-30% of patients), liver transplantation may be needed." (CLiC)
Sasha was ineligible for liver transplant (due to her pulmonary atresia) so we observed her liver for improvement, maintenance or signs of severity. We had clues that she was fragile (bleeding episodes during caths, at home and after the first surgery; blood saturation drop during exturbation). Sasha's liver disease was either severe or was the second cardiac surgery put unsustainable pressure on the organ.
Peter Hammond, a computer scientist at the UCL Institute for Child Health in London England, has developed computer software to speed up diagnosis of genetic conditions with up to 90% accuracy. 3D images of children with different conditions were scanned to create composite "average" faces of children with more than 30 different conditions. You can get more information about this exciting project on the BBC website and Research and Development News. 40-60 scans are needed and in some cases of very rare deceases that is more than there are children in the world with the condition.
And here is an inspiring Alagille story - Hunter Messer overcame many odds including getting cancer after his liver transplant to achieve success in life and sports (4 gold medals at the 2007 transplant games). What an inspiring young man! You can view his site here or watch a video at the local San Antonio Fox news (click on Sports then scroll to 11-04-07 to watch "Swimmer Overcomes Odds").
The Alagille Alliance is now registered with GoodSearch.com, the search engine with a social mission, and GoodShop.com, an associated online marketplace - both donate a portion of their revenue to non-profits. If you shop on eBay you can also donate to the Alagille Alliance via MissionFish.org.
Cindy Hahn and the Alagille Syndrome Alliance Board of Directors have done an amazing job to build this parent support group internationally and you can help by buying an AGS Awareness Bracelet and Bookmark. I can't wait for ours to arrive.
No comments:
Post a Comment