Keira’s Journey began when she was just 3 months old. We were out for a day at the animal park and noticed yellowing of her eyes when we were in the sun and decided to have her evaluated by the ER.  She had had issues with jaundice after birth and had been on a special light, but I knew when I saw her eyes that day that it was something more significant. After hours of labs and waiting on results we finally got the news that they were sending us to Children’s Hospital of Pittsburgh due to extremely abnormal labs and major concern that she was in acute liver failure. 

June 28th, 2013– Hospitalized at Children’s Hospital for over a week, Keira underwent numerous blood draws and scans to figure out the cause. Ruling out many of the common causes such as Biliary Atresia, Cancer and/or blockage of a bile duct … and still no answers. We were sent home and referred to a specialized liver doctor.  After many more follow-ups and labs with no answers, we then began the daunting task of genetic testing to rule out the cause to her liver failure. Finally, after many months of waiting we received an answer. The cause of her symptoms and liver failure was a rare genetic liver disease called Progressive Familial Intrahepatic Cholestasis Type 1 (PFIC-1) or Byler’s Disease. This 1:100,000 genetic disease is rare and not a lot is known about it since it differs in each child and there is no cure or perfect treatment. The usual treatment is surgical interventions; medicines vitamins; and transplantation as the last resort. We have a wonderful team at Children’s Pittsburgh that explained the intricacies of PFIC-1 and Keira’s condition. Her liver would not absorb fat-soluble vitamins A, D, E and K, her growth would be stunted, her immune system compromised and above all else, she would suffer from severe pruritus (itching) due to bile being in her blood.

Quest for a cure. For many years, Keira has had a regimen of medicines and vitamins to alleviate her symptoms and enhance her nutrition. Researchers and physicians were hard at work at developing medications that would alleviate the most debilitating symptom of PFIC – pruritis – and we participated in a drug trial through Children’s Hospital of Pittsburgh when she was 3 years old. 

Mirium Research Study – Maralixibat – When we were offered to participate in a research study aimed at helping her itch we jumped at the chance. She was going to be among the first in the U.S. to use this medication and a lot of attention was going to be on her and her symptoms. We began this drug and were pleased with the outcomes – very little to no itching in the first few weeks after starting the medication! Keira began to sleep more regularly, and her usual scratches and scabbed areas were diminished. Her labs and liver progression remained stable although enlarged for almost 10 years following along with our amazing Dr Squires and the team of nurses and medical staff. 

More Setbacks– In July she suffered another setback in regard to her growth when it was determined she also had Celiacs disease, which also severely would stunt her growth and nutritional absorption. In December of 2023 she was removed from the research study due to recurrent elevated labs and jaundice that did not resolve. The day they called and removed her from the study due to safety concerns left our family feeling defeated. Thankfully, Keira’s new liver doctor, Dr. Horslen, shared that another drug Bylvay (odevixibat) was recently approved for the market and had the same mechanism as her previous medicine to help again with the severe itch that had returned after being off for over a month of our other research medication. At that appointment he also mentioned he felt it was time to think about a transplant due to her poor growth and her continued flare up of jaundice and elevated labs. 

May 2024– After much contemplation and prayers, we have decided it was time for her to be evaluated and to be listed for a new liver. She was approved for listing as of May and now we are working on screening to find a living donor or for a call that they found her new liver.  We have partnered with the Children’s Organ Transplant Association (COTA) for assistance with transplant-related expenses. Please consider donating to COTA in honor of Keira.

The Children’s Organ Transplant Association (COTA) helps children and young adults who need a life-saving transplant by providing fundraising assistance and family support. COTA is the nation’s only fundraising organization solely dedicated to raising life-saving dollars in honor of transplant-needy children and young adults. 100% of each contribution made to COTA in honor of our patients helps meet transplant-related expenses. COTA’s services are free to our families, and gifts to COTA are tax deductible to the fullest extent of the law.