Eva Luna’s Story with PFIC

Eva Luna’s Story with PFIC

We are Francesca and Simone the parents of little Eva Luna. After her first month of life Eva began to grow up little by little, squirming at night and rubbing her little eyes wherever she could. All these symptoms were mistaken for gastroesophageal reflux. We started very strong therapies, but Eva started crying often, it was a heartbreaking cry, especially in the evening. We were told it was colic! But we knew something was wrong, we just had no idea how much.  When she was three months old, she became jaundiced, she got diarrhea and we went to the emergency room. We were rushed to hospital, the first three days we spent the nights away from her and Eva cried and we cried with her. One morning we arrived in the ward and found her shaved with a canula on her head, they found no other veins available. I became a difficult mother. One of the doctors told us that many pathologies had been ruled out and that he suspected a genetic reason, he whispered in a low voice the words “progressive cholestasis”.

They moved us to a department where we could stay with her but I became less and less manageable. I read that progressive cholestasis affects one child in 100,000, and I told myself that it couldn’t be us. We kept hoping for a transient cholestasis. We went home but they kept repeating that they were waiting for genetics. The result of genetics came. Progressive familial intrahepatic cholestasis type 1. New and untreated disease.

family story

To this day we cannot find the words to describe what we felt. You suddenly find yourself in total darkness. We only knew that at some point in her life she would undergo a liver transplant. I am not ashamed to say it, I fell into depression, I couldn’t get out of bed, panic attacks became companions of my days. My son Ernesto watched us and in his 5 years he saw his sister taking medicine on medicine and a mother torn apart. Simone became a superhero, he had to manage his pain, protect Ernesto and try not to let me touch the bottom, even today I still wonder how I would have done and how I would still do without him, without his strength. He looked at Eva Luna and felt the joy of being a father, of having her there despite everything, despite the monster was at home. I only saw the pain, but the spirit of survival and above all the love I feel for her, he told me to react and at a certain point I began to see her, she who together with her brother is the reason for life. 

Months went by, we started to study, we discovered that type 1 of this disease is basically the worst, transplantation is not resolutive because other organs are involved, intestine, pancreas, short stature and deafness. Yet another blow. We came into contact with other families and with the international Pfic network, there were experimental drugs for itching. Itching that continued to increase day after day. We went to northern Italy where the trials were active but it seems that Eva Luna’s genetic mutations were not compatible with enrollment in the clinical trial. After months of stopping because of Covid, good news arrived, Eva had been enlisted in the trial! Hopefully we start the drug.

Months later we can say that it is not Eva Luna’s drug, that there was no miracle. The itching is taking away everything, it’s taking away Eva who is no longer living her days. She doesn’t sleep more than four hours at night, the rest she spends trying to tear her skin. We try to distract her as much as possible sometimes it works, especially thanks to her brother, a little warrior himself, called to fight a war too big.

She is the strongest and toughest little girl that exists, but we can’t ask too much of her and you tear yourself apart because you can’t help your daughter, you despair. In front of us there are only surgical options with little chance of success. Only RESEARCH could work a miracle. The association Pfic Italia Network was born also for this reason, to give a chance to that miracle.