TRANSCRIPT

When my first and only daughter was five months old, we were visiting family in Wisconsin. I'm originally from Kentucky. When we were there, she was very tired and lethargic, which was unlike her because she spent her entire first months of life crying, so we were very used to an active and vocal child.

We were told that she had colic. I also didn't know what colic really meant because colic is just a crying baby, but her pediatricians assured us that this was just babies. They cry. We'll give her gas drops, indigestion, all those things.

So when we were visiting my parents in Wisconsin, I noticed that she had some weird bruising on her back. The bruising looked like fingers. It looked like when I had held her, my fingers had left bruising.

I noticed it and I called her doctors at home and they said, “Okay, just bring her in for lab checkup when you get back. Keep an eye on her and it shouldn't be anything, but we'll check some bloodwork when she gets back.”

Two days later, we were waking up to take the flight home. When my daughter woke up, her shoulder was swollen, very obviously swollen. That's when we felt concerned. Rather than going to the airport, we went to the emergency room in my parents’ hometown.

Kind of just figured, well, that's weird. She had had an ear infection. She was treated on antibiotics. I just figured there was something that she needed to regulate.

Went to the ER and was not really prepared for what happened next. At first, they saw the bruising and they worked us up for an abuse case. Once they got her bloodwork back and realized she was in liver failure, they apologized and admitted us to the pediatric ICU.

When we were in the ICU, I was with my daughter who was no longer crying all the time because she was sleeping all the time, because she was in liver failure. I thought I was going to lose her in that moment. The doctors didn't know what the reason was. They did a lot of tests. There was a lot of questions. “Did you give her Tylenol recently? Did you give her too much Tylenol?” I don't remember. That was at home. Maybe I did give her too much Tylenol. I started questioning every little thing that I did.

They just kept on going with their workup and didn't really have any answers, but she did end up stabilizing after two days, and stabilizing as in she's no longer in liver failure but they still didn't have an answer.

So we moved out of the ICU and, a few days later, she was stable enough to go home knowing that she had some sort of liver condition or liver reaction to something, but she was not in any immediate danger of her life, so they sent us home to Kentucky.

I was an ICU nurse at the time so liver failure was one of the specialty populations that I took care of. I knew enough to be scared that I had an infant at home who had recently been in liver failure. I knew what stability looked like in the short term, but I also knew how quickly things could progress to unstable. And so I started worrying about every little thing.

We were supposed to follow up at our local specialty hospital, which was two hours from us within four weeks of getting home. When we got home, she was crying, she was uncomfortable. I just felt like something was wrong and so I took her back to the ER.

The ER took my concern seriously. They shipped us off to that specialty hospital that's two hours from us. We spent a week there and still didn't have an answer, but they performed liver biopsies. We knew something was wrong. The specialty team confirmed. It could be this whole slew of things. They didn't all sound great, but we were just going through the motions.

I really liked the doctor who was with us in the hospital. She was somebody that instilled trust in me right away. Being an ICU nurse, that's not easy to do. I don't try to but I question everything, which seems like I'm questioning everybody. It's more just educated questions and so I recognized that I could be a challenging mother to a patient, but she and I got along really well.

So when we were getting close to being discharged, I was looking forward to following up with her just because I felt comfortable with her. She informed me, “This is my last day at this hospital. I'm going to a hospital cross country and you’d have this doctor,” who came in and introduced himself. He felt less warm. I didn't know him. We were going home and we were supposed to follow up with him. And then I just felt very concerned.

We ended up going home. A few weeks later, back for outpatient with this new doctor. On our way to the appointment, I called a good friend of mine and I told her the name of the disease that the hospital had given me from the genetic test.

I said, “I don't have time to look it up but we're just a few minutes from the doctor. I just wanted you to kind of take a look and, after the doctor, we'll reconnect.”

Went into that appointment. The doctors came in, said, “She has progressive familial intrahepatic cholestasis,” which I already knew. And they said, “What questions do you have?”

I just paused and said, “Well, I know nothing, so I don't even know what questions to ask.”

It was then that I found out that there really wasn't many answers. This was not a positive diagnosis. This wasn't like a, “Here's your diagnosis and here's the treatment path and she will do better once on this course.” This was, “Her disease will progress towards liver failure requiring liver transplant at an unknown point in time. She will likely experience severe itching, itching that will keep her up at night. Really, there's nothing to manage the itching. She won't be able to absorb vitamins or fats, and gaining weight would be really hard so you'll have to keep coming back to us every few months while we monitor her to make sure she's doing okay.”

They didn't have any resources to give me. They didn't have any support. I was very confused.

Left the hospital, called my friend and my friend was crying. She had looked it up and the information that was available on the internet was very scarce but it was not very good.

That was the start of our journey.

A few months later, we were dealing with the itching pretty severely. Every night, we would wake up to her sheets in her crib being bloody. She would scratch her ears nonstop until they bled. We had to keep her covered head to toe with a onesie because if she had any skin exposed, she would scratch it until it bled.

During the days, she couldn't really play or eat or do much because she was just scratching, so it was a nightmare.

They added one medication. It's an off label medication. It's something that works for some patients, not all. That didn't work. So then, we were faced with surgery as an option. But the surgery is for symptom relief. This was not transplant. This was for the itching.

There were two available surgeries that helped some and not all. One was an internal diversion, one was an external diversion, trying to divert bile away from the liver. The external diversion comes with a stoma, so a bile bag that's external to her body. The thing is, they couldn't tell me which one was preferred. They couldn't tell me which one had a better shot of her doing well. They couldn't even tell me if the surgery would help her itching, but it was our only hope.

We tried the external diversion. It didn't work. So now she was 15 months old and she had an external drainage bag that was just another area to scratch. She would scratch until the bag came off and she would scratch her stoma until it bled.

We did everything we could to try to figure out how to give our toddler a sense of a normal life while she was dealing with this itching, all the while going to the hospital a few hours from us every three months so that we could ultrasound her liver, get bloodwork, and ultimately see if her liver was progressing towards failure.

That was her first five years of life. When she turned five, her bloodwork changed. Her itching was no longer her primary problem. Her liver was starting to fail. Her spleen was enlarged. We knew this was coming. Her vitamins were so low that any type of vitamin therapy wouldn't help her, and there's grave consequences to chronically low vitamin levels, so it was time. It was time to talk about transplant.

Fortunately, we were able to be a little bit proactive. Remember that doctor that I mentioned early on, the one that I didn't trust because I didn't know him? It took us about a year, but we really got to know each other well. I learned that he actually was one of the most prominent researchers in the field.

He had treated two patients with PFIC at that time. At first, I said, “Well, two patients? There's no way this guy knows anything. Obviously, I need another opinion.” But, actually, he knew more than most. Two patients was quite a lot.

So with his support, we proactively listed her for transplant. She was low on the list because she wasn't in severe liver failure just yet. Two of our friends stepped up to be a living donor, which is a really great thing, but fast forward, it made me really uncomfortable. I wasn't able to be a living donor, neither was her father, because we were unsure as to how the genetics played in, if that was favorable to transplant a liver that would have a component of this disease, so these two friends were our options.

But I had a lot of concerns. They pressed on, did the evaluation. One of them was pretty much primed and ready to go. She had one more test to go. She was going to donate a liver to my daughter. It's actually the same friend that had that call the day of diagnosis.

I was working a shift in the ICU and I just felt sick. I had a panic attack. All of a sudden, something just consumed me. “She can't do this for her. She just had her firstborn child. She's still breastfeeding. She worked really hard to have her child. She can't put her life at risk for my daughter.”

The next morning, Cedar, my daughter received the call that there was a donor available, a cadaver donor available for her, so she was ready for her liver transplant. I don't know what it was. I don't necessarily believe in fate, but that day, that panic, I was so worried about my friend and the next day the miracle came, or so I thought.

My daughter is doing so much better after transplant than she was before, but her disease is by no means cured. She was transplanted at age five, she's now 13. Since then, she's had five episodes of rejection, she's had reoccurrence of her disease, of her underlying disease and all of the itching and everything that went with it, and just last month, she had a seizure while we were driving home from labs.

She was helicoptered over to the hospital where, fortunately, she is okay, but now she has that on her plate.

So, on the day to day, she is a 13 year old living a beautiful life, showing all of the amazing qualities that she has, all of her resilience, her fearlessness, her ability to cope and adapt with life. She just wants to live as a normal teenager and I want to provide that for her. But on some level, I'm still waiting for that next bomb to drop.