Alagille Warrior Journey: The Mullett Family Part 2

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.

Discovering ALGS as an Adult

Stephanie Perry:

Before Bryce was born, we had never heard of Alagille Syndrome, and I know within my own journey learning about this disorder, again, whenever we were in the NICU and they were telling me all about Alagille Syndrome and I told the doctor, I was like, “I think I have this, is this a genetic thing?” And she was like, “What do you mean you think you have it?” And I was like, “There’s been all these weird little stories of my childhood that this just connects way too many of the dots.” And as we’ve just gotten more involved in it, it is scary to know that there is no plan of care for adults. We don’t know what to look for. We don’t know what to expect. We don’t have any of that information. So as an adult, trying to navigate that, that’s scary, and then as my own child continues to grow up in that, it’s even more scary.

Burden of Disease

Stephanie Perry:

I’d say the burden of disease, it’s definitely challenged us in ways that we never would’ve thought about. Whenever you are pregnant with a baby, that of course has its own challenges and trying to plan financially, and whenever you’re planning for having a baby or hoping and wishing to have a baby, you definitely don’t assume that that baby is going to be unhealthy and have its own set of challenges. So everything with Bryce from the get-go has been kind of off what we imagined our journey was going to be like.

For Emma, big sister, she was six at the time when Bryce was born, and then seven whenever transplant time happened. So she definitely has a very unique perspective of what we’ve been through and what she’s been through and what her brother has been through, and is one of his biggest advocates just with his health and things like that. I know Andrew and I, within our own marriage, we didn’t expect having such a sick kiddo and we’ve had tons of time as a family apart, where he’s down here with Emma and I’m up at the hospital, or transplant time where all three of us were here and we needed our extended family to support with Emma and getting her to school and just trying to keep things as normal as possible.

And then really the financial impact, we both had to completely reconstruct our careers and our jobs and that will impact us as Bryce grows. Like I said before, we kind of always have to have a plan of who can take off work or who’s available and what is that going to look like. And it’s something that we’re very transparent with our employers, about what our home life is like. And yeah, it impacts literally every aspect of our life, and it really has since we found out that there was something potentially wrong with him.

What are your hopes for the future?

Stephanie Perry:

I think just more information. Like I said earlier, there’s not… Alagille Syndrome is kind of known within the medical community as being like a childhood disorder. 10 years, 15, 20 years ago, the plan of care for kids at that time was very different than it is even now. There’s new information coming out all the time, whether it’s within transplants or even some of the new medicines that are coming out to try to help with the ridiculous itching that comes along with Alagille Syndrome. We wanted to keep going forward, especially as Bryce, I mean he’s only four right now, but at some point he will be an adult and he’s going to be a post-transplant adult with a rare disorder. We just want to keep information going. More research, more guidance, more education, anything that can help drive the plan of care, not only for Bryce, but for any kiddos who are either undiagnosed or newly diagnosed or kiddos that’ll come up through the pipeline later on down the road, and adults who are trying to find out their own diagnosis.

Why should people care about Alagille Syndrome?

Stephanie Perry:

I know that other people should care about Alagille Syndrome because even though it is a rare disorder, as they’re looking into Alagille Syndrome and trying to figure out what’s causing all of these different things or how they can create a drug that helps with the itching, that can then help anybody else who’s also kind of suffering from some of those system issues.

Any advice for new families joining the ALGS community and the ALGSA? What can they expect?

Hold on to your buckets, it’s going to get crazier from here. We as a family have been very grateful to be involved with the Alagille Syndrome community and the Alliance whenever Bryce was still in the NICU, when they first were talking about Alagille Syndrome, I just started looking stuff up online and I found the Facebook group and then within, I posted kind of our little spiel about what was going on and these new big, crazy words and what was happening. And within I’d say two hours, I had multiple people reach out to us. We were welcomed with open arms, and it’s so comforting to find your community.

Being able to celebrate other families and children’s accomplishments within their own health or within just being kids and learning to walk or graduating. It’s this kind of weird sensation, you also see your own child in those other kiddos. We have been very, very grateful for that sense of community and I hope that other people are able to find that as they come into the Alagille Syndrome Alliance. So yeah, I guess my biggest thing would just be, Welcome, we’re here for you, we’ll get through this, whatever it may look like. And everyone I think is stronger than they initially think they may be.

Andrew:

It’s just been a great community. It’s great to know that there’s families out there that have been through similar or adjacent experiences to what we’ve had.

Stephanie Perry:

Alagille Syndrome is a rare disorder, so there’s a lot of times that unless you’re working with your specific GI doctor, if you go out of the bounds to maybe an ENT, they’re going, “What is the Alagile?” And we’re like, “It’s Alagille Syndrome, here’s all the information you need to know about it.” And so as the Alagille Syndrome Alliance, especially as they push forward with research and with information and just trying to gain some understanding around this disorder, having that information at our fingertips and then being able to share it with one another and with our teams and with anyone who will basically listen at any time of the day, if you need support, it’s right there.