Alagille Warrior Journey: The Mullett Family Part 1

Stephanie Perry:

So Bryce has a genetic confirmed diagnosis of Alagille syndrome, and I am in the process of getting a genetic confirmation. But I have a clinical diagnosis of Alagille syndrome.

An ALGS Family Story: The Mullett’s

Stephanie Perry:

I’m Stephanie. This is… What’s your name?

Bryce:

Bryce.

Stephanie Perry:

Bryce.

Andrew:

Hi, I’m Andrew.

Emma:

I’m Emma.

Stephanie Perry:

And that’s Emma. We live in Colorado Springs, Colorado.

The Diagnostic Journey

Stephanie Perry:

So our diagnosis started whenever I was pregnant with Bryce. At our 20 week appointment to find out his gender, we found out he was a boy, but then, we found out that there was also something very wrong with his heart. About three weeks later, at 23 weeks, they threw out a variety of diagnoses, of hypoplastic left heart syndrome, cystic fibrosis. There were just a lot of things on the table, but we didn’t really know. A week later, we had our first meeting with cardiology, and Bryce was then diagnosed with hypoplastic left heart syndrome. In utero, he really struggled. His heart was working really, really hard every time that it had to pump. We had multiple appointments follow-ups, just to kind of monitor him. I think we were so tapped out on diagnoses and the unknown, and we didn’t even know if he was going to make it to birth, that, at that point, it didn’t really matter what he had.

Signs of Alagille Syndrome

Stephanie Perry:

I was hospitalized at 30 weeks, to continue to monitor him, and then, at 32 weeks, I was induced. 48 hours of him being born, our diagnosis very quickly changed from hypoplastic left heart syndrome to Alagille syndrome. He spent about 28 days in the NICU, and his bilirubin was high. He has the butterfly vertebrae, he has the posterior embryotoxon, the heart defects. Lots of things were pointing straight to Alagille syndrome. And then, we did the genetic testing. We finally confirmed confirmed genetic diagnosis of Alagille syndrome.

Life After An ALGS Diagnosis: Navigating a New Normal

Stephanie Perry:

Since diagnosis, he has had so many procedures. He had an NG tube at one point. He had a Broviac and was getting intravenous feeds, because he was so, so tiny, heart catheters, liver transplant. He also had a tethered spinal cord, so he had that released.

Juggling ALGS

Stephanie Perry:

That first year of life, actually even kind of before that first year of life, even starting in the pregnancy, we had so many doctor’s appointments. Probably from about 26 weeks on for my pregnancy, we were going an hour, an hour and a half away, twice a week, to monitor. And then, like I said, I was hospitalized.

And then, whenever he was born, he was in the NICU for 28 days and then, came home. But we were meeting with specialists about once a week or so, and then, we had a month off, I would say, from December of 2017 into about January of 2018. But then, he started profusely throwing up frequently, and then, things deteriorated quickly with his health. That first year that he was born, I was a teacher, so that was very, very challenging. Because trying to maintain a classroom of 15 preschool kids with their own needs and then, going home to a very sick baby was really, really tough. My husband ended up leaving his job at the time. In Colorado, we’re very fortunate that, if you are on Medicaid, you can qualify for CNA hours as a parent. So Andrew went ahead and did that. He got his CNA qualifications and then, was able to take care of Bryce at home and get paid for it. One of us had to be home all the time, so we were very, very thankful for that program.

Liver Transplant

Stephanie Perry:

As Bryce got closer to transplant, we were just at the hospital more and more, and he was evaluated for the transplant. And then, he had the flu and then, part of Alagille syndrome is that, as your liver deteriorates, you get really, really itchy. And so, even as a six, seven month old baby, he was scratching himself and ended up almost pulling out his Broviac. So that was yet another hospital visit. He had his first heart cath procedure, and they put in pulmonary stents. And that was in preparation of transplant. And then, throughout the summer of 2018, we were just at the hospital all the time, for every reason under the sun. He was pooping blood all the time, and so, he had to have blood transfusions. And then, at the same time, Andrew was also looking into becoming his live liver donor. And then, I ended up switching positions out of teaching and into more of a flexible schedule.

And I had started in July, and I had three weeks of my training. And then, we got Bryce’s transplant scheduled. And with knowing that Bryce was going to be having his transplant and then, Andrew being his donor, I’m like, “Well, I got to take some weeks off work, because they’re both going to be out of commissions.”

Moving Forward

Stephanie Perry:

With transplant, Andrew spent nine days in the hospital and then, Bryce ended up spending 14 days in the hospital. But since transplant, things have definitely calmed down a lot. That first year was really, really rough. Bryce is very stable, but at any point, that stability can be threatened. So we always kind of have to maintain a lifestyle of things changing and needing to be flexible within that.

Taking Stock of ALGS

Stephanie Perry:

So Alagille syndrome is multisystemic, and it impacts Bryce, from kind of top to bottom. We follow up with a neurologist every six months to a year, to make sure that his brain is growing and to make sure that he’s not developing moyamoya, which is stenosis of some of the veins and arteries in the brain. He has the posterior embryotoxon in his eyes. He has, I think, I want to say, three of the butterfly vertebrae. He has pulmonary stenosis in his heart. He had a liver transplant. He’s in stage two kidney failure. His kidneys are small and a little misshapen, which is also impacted by Alagille syndrome. And then, he’s small for his age. He has a G-tube. We just got that, back in December, because he was failure to thrive whenever he was itty bitty.

And then, he still struggles with some pretty significant feeding issues. I’m trying to think, I think those are the big ones for him. But the hard part too is that we don’t know what may still pop up as he grows. There’s not really very much of any adult care plans or adult information within Alagille symptoms. So we don’t know what issues will arise for him or for myself as I age either.