Shannon and Todd Palmatier have three children, two of which have progressive familial intrahepatic cholestasis (PFIC). Their sons’ diagnoses have brought the lack of knowledge and advocacy to the attention of the Palmatiers, and they aim to change that. They have worked in their community to bring attention to this rare condition, all while providing the best possible care for their sons.
About Progressive Familial Intrahepatic Cholestasis (PFIC)
PFIC is a group of rare, genetic liver conditions that typically affects children. Defects in the biliary epithelial transporters, which are responsible for transporting bile out of the liver, cause this disease. The defects are genetic, and they are passed down in autosomal recessive pattern.
Symptoms of this condition include obstruction of bile from the liver, intense itching, jaundice, and failure to thrive. In addition, fat-soluble vitamin deficiencies may occur, which can lead to issues in balance and vision, as well as broken bones.
A diagnosis typically comes after a physical exam and evaluation of family and medical history. Blood and urine tests will be performed, and doctors will use a liver biopsy to discover if cirrhosis has happened. After a diagnosis is obtained, treatment is symptomatic. Drugs can be prescribed to help the itching, and procedures can be performed to divert bile away from the gallbladder and into an external bag. If patients lack fat-soluble vitamins, they can take supplements. In severe cases a liver transplant may be necessary.
The Palmatier’s Story
There are three sons in the Palmatier family: Evan, Brayden, and Camden. The oldest, Evan, and youngest, Camden, have both been diagnosed with PFIC3. Both children were diagnosed when they were 18 months old after parents noticed they had intense itchiness and issues with their livers.
After two of their children were diagnosed with PFIC, Shannon and Todd received genetic testing, through which they discovered that they were both carriers of the genes responsible for PFIC.
Evan and Camden both take medication for the itching, but because there is no treatment for PFIC they have lived with the knowledge that they may need liver transplants in the future. Evan, now nearly 20 years old, has seen his health decline in the past few months. His parents are now looking to put his name on the transplant list. Unfortunately the current pandemic has paused these plans, but they hope to go to Strong Memorial Hospital for an evaluation soon.
Camden’s health is stable, and he is even working to inform his community about his condition. On February 28, he spoke to his class at Ellicottville Central School about PFIC in an effort to raise awareness and spread knowledge. His parents have worked towards the same goal, as they have noticed the lack of information and awareness about this condition.
Read the source article here.
