By Deb Everts

An Ellicottville family is working to raise awareness about progressive familial intrahepatic cholestasis (PFIC), a rare genetic liver disease that affects infants and children.

Todd and Shannon Palmatier, along with their three sons, Evan, Brayden and Camden, have been on an urgent mission to help people understand this ultra-rare pediatric disease. Their oldest son, Evan, and youngest son, Camden, both have the disease, and the family is struggling to find a treatment.

“There is a lack of information out there about this disease and we are trying to be advocates to get the word out to the public. When Evan was diagnosed about 18 years ago, there was very little information,” said Shannon Palmatier. “Evan and Camden have what is called PFIC3, and I believe there is a fourth and fifth form. I think they are all hereditary, but the difference is how the forms manifest themselves and how the disease progresses.”

Palmatier said Evan was diagnosed nearly 18 years ago after he began experiencing problems with his liver and developed a severe form of itchiness known as pruritus. He was found to have cirrhosis and eventually was diagnosed with PFIC3. When Camden developed similar symptoms and was diagnosed at the same age of 18-months, they were devastated.

“When Evan was born, he was jaundiced but that is pretty common for babies, so there was no indicator that anything was wrong,” she said. “Now, looking back, we know this was a symptom. Another symptom appeared when he was 6 months old. He would scratch and itch at his ears and his feet.” 

According to Palmatier, the pediatrician thought it was eczema. After his diagnosis, they came to realize that, with any liver disease, excessive itching is a symptom and it can be almost debilitating at times. 

“For Evan, that was really the only symptom, with the exception of his distended belly which the pediatrician was concerned about at his 18-month appointment,” she said.

Through testing, Palmatier and her husband discovered that they carry the recessive genes. She said there is no one else on either side of their family, as far as they know, with this rare inherited condition. Their kids are the first.

“Because we are both carriers, it doesn’t necessarily mean our children will have PFIC, but there is a 75-percent chance,” she said. “With this disease, there’s essentially a mutation in one of the genes within the liver that produces a protein enzyme. This particular protein enzyme that my boys don’t get enough production of allows the liver to push out the bile. When that happens, the bile backs up and the toxins destroy the liver.” 

According to Palmatier, there are no pharmacological treatments for the disease, just a few medications to ease the intense itching they both experience. She said both boys have taken Ursodiol, also known as Actigall, to ease this itching. This has kept Evan pretty stable, until now.

“This is a slow, progressive disease and the doctors have told us all along that a transplant could be in the future. They just never know when,” she said.

When The Salamanca Press published an article about Evan, in July 2017, he was doing very well and, until recently, he has been attending college. Palmatier said he will be 20 on May 31 and he took the semester off because his health has declined. 

“In late April, we are headed to Strong Memorial Hospital, in Rochester, for a transplant protocol,” she said. “His health has declined a lot in the past three or four months. We are dealing with a quick progression in the disease so it’s been very stressful. He isn’t on a list for a transplant yet, but we are hoping to go for an evaluation soon, which is a two-day process.

“Camden is 11 and right now he is quite stable. He has an enlarged spleen, which is quite common for anyone with liver disease but, all-in-all, he’s holding his own at this point.”  

For now, the Palmatiers are trying to maintain a positive attitude as their work to raise awareness of the disease has taken on a new urgency. On Feb. 28, prior to the school’s shutdown due to the COVID-19 epidemic, Camden gave a presentation about the disease to his sixth grade class at Ellicottville Central School (ECS).

Palmatier, who teaches sixth grade at ECS, said it was her husband’s idea for Rare Disease Awareness Day, which was Feb. 29 this year. He’s a salesman for Culpeper Lumber in Virginia.

Part of their struggle is coming to terms with this chronic illness that will never go away, or at least until there is a cure. Palmatier said it’s also the unknown of it all, especially now that they are approaching a transplant.

“My hope is to be tested and we’ve had other people reach out to be tested as well, but until this coronavirus is over, that can’t happen,” she said. “After we do the evaluation, he will be placed on the National Transplant List so, God willing, elective surgery from a donor will be allowed over the next few months.”

Palmatier said many people helped, but they purchased t-shirts for Camden’s entire sixth grade class, plus several other classes, including Brayden’s senior class at ECS. Some people gave them donations for the t-shirts and the Jock Shop, in Jamestown, helped them purchase the shirts. 

To find out more about this chronic disease, visit the American Liver Foundation online at liverfoundation.org where there is a HELPLINE phone number, 1 (800) 465-4837. Also, visit PFIC Voices at pficvoices.com, which is an informational site sponsored by Albireo Pharma, a biopharmaceutical company that is working to develop a treatment for PFIC.