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This is my nephew Gabriel Murphy. He is 3 months old and has already spent a lot of time in the hospital due to extreme jaundice, lethargy, multiple kidney infections requiring several rounds of antibiotics, and digestive difficulty.
Gabriel was just diagnosed with Progressive Familial Intrahepatic Cholestasis (PFIC-2) a very rare genetic disorder caused by a variety of mutations in the gene ABCB11, that codes for the bile salt export pump.
Due to this mutation and resulting complications, infants with PFIC-2 get a poor prognosis and the condition leads to failure to thrive, liver cirrhosis, and increased risk of developing liver cancer at a very young age. Like the name states the disease is typically progressive, leading to fulminant liver failure and death in childhood without liver transplantation.
My sister Cassandra Murphy and my brother-in-law Jason Murphy have an extremely rough and devastating road ahead of them. Cassandra is already struggling to make it to all of Gabriel's appointments due to childcare difficulties and she has been unable to work since his birth due to his frequent hospital stays and multiple procedures. They now have their sights on Stanford Hospital in California where Gabriel will be placed on a transplant list.
Every day we receive more difficult information and lab results that show that support and the need for a liver transplant are urgent. I am hoping that any support received will help with transportation costs for their consult in California, hospital bills that continue to roll in, and childcare support for their other amazing children at home. Jason has had to continue working to support their family during this tough time which means that he has not been able to be present for several of Gabriel's office visits leading to additional stress for both Cassandra and Jason during this already stressful time.
Any support would be greatly appreciated. Please feel free to reach out to me for additional information or if you think there is more that we can do to get my family this much-needed support. Thank you from the bottom of my heart.

