Jude’s Journey began at the young age of 5 months. We noticed bruises on his back, his skin a bit jaundice but for the most part he was a happy, healthy boy. Thankfully, Aunt (Dr.) Jacqi encouraged us to request some bloodwork and a liver panel at our next pediatric visit to get more insights. Days later he was diagnosed with Acute Liver Failure and we were sent to Children’s Mercy for care.
Our Family’s September 11th. This is when it all changed for Jude and our family – was it Leukemia, Cancer or could it be a simple blockage of a bile duct? No, it was none of the above. The cause of his symptoms was a rare genetic liver disease called Progressive Familial Intrahepatic Cholestasis Type 1 or PFIC-1. This 1:100,000 genetic disease is a rare one that not a lot is known about and there is no perfect treatment – surgical interventions; medicines and vitamins; and transplantation – are all options. We had a wonderful team at Children’s Mercy that explained the intricacies of PFIC-1 and Jude’s condition. His liver would not absorb fat-soluble vitamins A, D, E and K, his growth would be stunted, his immune system compromised and above all else, he would suffer from severe pruritis due to bile being in his blood.
Quest for a cure. For many years, Jude had a regimen of medicines and vitamins to alleviate his symptoms and enhance his 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 Cincinnati Children’s. After 3 years, Jude was removed from the study and we were deflated. Thankfully, Jude’s liver care Captain, Dr. Jack Daniel (what a name for a liver care specialist!), shared that another drug was being developed and Jude’s PFIC type was perfect for this medicine.
Bylvay. The drug, Bylvay (odevixibat), would be the first FDA approved medication for PFIC and kiddos like Jude. He 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 him and his symptoms. We began this drug in September 2021 and were pleased with the outcomes – very little to no “itchies”! Jude began to sleep more regularly and we even heard him dream for the first time in 10 years! We thought this was it – we could manage his nutrition with supplements and curb his itchies with Bylvay. However, chronic vitamin deficiencies resulted in other losses – severe hearing and, most recently, optic nerve atrophy.
A new lease. Given the deterioration of Jude’s vision and hearing, we made the decision to transplant. We were listed on June 30th and within 30 days we got the call. The procedure was performed on July 30th and Jude has a new lease on life. We understand that one family’s loss is another’s gain. Jude is beginning to comprehend this and is grateful for his donor. As we sit here in Children’s Mercy, we know that Jude’s Journey is not over. We have traded out “Larry the Lazy Liver” for a new one that is functioning. Jude’s body is slowly acclimating to bile going through his digestive system, his spirits are good and we are looking forward to a full recovery. We cannot thank everyone enough for their well-wishes, prayers, texts, photos and calls concerning Jude. He greatly appreciates them!
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 Jude.
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.