Hope for Harlow
MarbleRoad recently learned of a family who desperately needs your help ::
Their 6-month old daughter is in need of a liver transplant. Her parents are doing everything they can to make ends meet, but without benefits, times are tough. If you want to add some good karma to the world, this is an easy way to help a very deserving family!
Currently, Harlow is at The Children’s Hospital of Philadelphia, and she is bleeding from her stomach (and possibly also her brain). This young child’s liver is failing and she needs a transplant. The hospital is looking for an O+ blood type with petite build for a possible donor match. They are also looking for folks who might be able to donate blood. For anybody with questions, or who things they may be able to help, please contact the Living Donor Coordinator, Linda Wood, at (215) 615-0564. You might also want to consider a donation to help support the family; donate here – http://hopeforharlow.chipin.com/h0pe-for-harlow.
Harlow was diagnosed with Alpha-1-Antitrypsin Deficiency ::
Alpha-1 Antitrypsin Deficiency (Alpha-1) is a genetic condition that is passed on by parents to their children through their genes, and can cause serious liver disease in children and liver and/or lung disease in adults. Alpha-1 occurs when there is a severe lack of a protein in the blood called alpha-1 antitrypsin (AAT) that is mainly produced by the liver. The main function of AAT is to protect the lungs from inlammation 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.
You might recall, we referred to the average cost of treatment for alpha-1 in our post “Anti-ACA Litigation, Extenders Act and Rare Disease Day 2011” — $150,000 per year!
From the Johns Hopkins Childrens Center ::
There is no cure for A1AT deficiency. Therapy involves controlling symptoms and attempting to prevent the development of complications. It is very important for the affected person and those around him/her never to smoke in order to protect their lungs. Vaccinations to protect against viruses that can further damage the liver, such as Hepatitis A and Hepatitis B, should be given. It is difficult to predict how severely a liver will be affected. Liver function tests are followed over time. Some patients may have minimal liver disease during their entire lifetime; however a small number will eventually require a liver transplant.
For more information about the disorder visit the Genetic and Rare Diseases Information Center (GARD) on the website for the NIH Office of Rare Diseases Research; or contact the following organizations:
2937 SW 27 Avenue, Suite 106
Alpha-1 Genetic Counselor: 1-800-785-3177
Miami, FL 33133
Phone #: 305-648-0088
800 #: 800-521-3025
Home page: http://www.alpha1.org
Alpha-1 Research Registry
c/o Medical University of South Carolina
96 Jonathan Lucas St., Suite 812-CSB, MSC 630
Charleston, SC 29425-6300 USA
Phone #: 843-792-0260
800 #: 877-886-2383
Home page: http://www.alphaoneregistry.org