A Mother Navigating the Same Rare Condition as her Children | Stacey and Dean

In this episode, Kerri Fitzgerald speaks with Dean Salmon and Stacey Carpenter-Salmon, parents to two children who were diagnosed with a rare genetic condition called Alagille syndrome. Stacey later found out that she had Alagille syndrome, as well as some extended family members. Dean and Stacey give advice for other parents and families helping a loved one through a health journey and talk about how impactful it was to find a community of families who could understand this condition first-hand. Dean and Stacey offer important advice to advocate for your loved one and to take time to relish the simple moments with family. 

Key Highlights: 

• Hear how Dean and Stacey came to learn that their children had Alagille syndrome. 

• Learn about how the condition affects Stacey and her two children in very different ways. 

• Hear about how Dean and Stacey found a community in the Alagille Syndrome Alliance, connecting with others who could truly understand how their lives have been impacted. 

• Be inspired by Dean and Stacey’s recommendation to focus on the important people in life rather than “the stuff.” 

Transcript:

Kerri Fitzgerald:

Hello and welcome to My Hero 360. My name is Kerri Fitzgerald, and today I’m speaking with Stacey Carpenter-Salmon and Dean Salmon. Thank you both so much for joining me. You’re joining us from Australia, which is exciting. This is an international interview for My Hero 360. Again, we’re excited to have you on. I wanted to get into your family’s story about how a rare genetic disorder called Alagille syndrome has impacted your family. Stacey, you and your 2 sons have been diagnosed with this condition. Can you tell me about how you came to discover and understand this diagnosis?

Stacey Carpenter-Salmon:

Absolutely. We experience Alagille syndrome quite differently. In our family, myself, my eldest son, Alexander, who we call Xander, and our younger son, Jude, we all have been diagnosed with Alagille syndrome. It’s been quite a crazy journey, I guess, to get to those diagnoses. To go right back to the start, we’re looking at 6 years ago now that we first started to notice some symptoms in Alexander.

Xander was 5 at the time, and he became quite uncoordinated and he became very just not like himself. There were times where we noticed that his speech was a little different, times where his vision was a little bit different. This probably went on for a period of about 4 weeks. It started and it stopped. To tell you the truth, we all just thought it was just a little bit funny and quirky at the time.

Our GP, our general practitioner, suggested that let’s get an MRI just to make sure it’s nothing neurological. In that MRI at the end, I was pulled aside by the technician and it was the whole, “We’ve found something. You need to go straight to a hospital. We’ve called ahead.” That’s all the information I had. Over the next couple of weeks, there was lots of tests done.

What was found was that Xander had been having strokes and he had very, very severe narrowing of both of the internal carotid arteries right up in his brain in a segment that is very, very difficult to access. There was no idea about the cause of this, but we just knew that he was very much at risk for further strokes. We were sent home with steroids and just to try and reduce any inflammation and to stop those strokes from happening.

A couple of months later, we were back in hospital as he did suffer some more strokes. At that time, an angiogram was done. While the narrowing in the brain is quite scary, it was also found that in the very top front part of his brain, there was inflammation. He was diagnosed with small vessel vasculitis. From that point on, he actually started chemotherapy and immunotherapy in the hope that those things would reduce inflammation and stop the strokes.

For a couple of years, he had this treatment. The week after he was weaned off of this treatment, he had more strokes. It’s been incredibly scary. A couple of years after that, it was found that the narrowing of the internal carotid arteries had progressed further. Alexander actually underwent 2 indirect brain bypass surgeries in the hopes of revascularizing his brain.

While this was all going on in the background, there had been some genetic testing occurring. To tell you the truth, I think we’re quite lucky that we actually found something in that testing. That’s when the idea of Alagille syndrome was first brought up. It was identified that myself and Alexander had that JAG1 mutation. It opened up the world of Alagille syndrome for us. Since then, Alexander has continued treatment.

We have been testing our younger son, Jude, and he received his Alagille syndrome diagnosis earlier this year in January. Across the 3 of us, it’s quite different. Alagille is exclusively cerebrovascular for Alexander. For me, it’s structurally in the heart, and I have kidney disease as well. Then for Jude, it’s also in the vessels of his heart, different to how I experience it. He has a bicuspid aortic valve. He has a slightly enlarged aorta.

For us, the liver aspect of Alagille syndrome isn’t really affecting our family. We’re quite atypical in that way. I guess the biggest thing for us right now is that we need to look at the small vessel vasculitis that Alexander has because it’s raising all these questions of where is the immune system now? How does it interact with Alagille syndrome? That’s very, very understudied. For us, it’s quite urgent that we start to see some research or some progress in that area.

Kerri Fitzgerald:

That’s very scary as you described with your older son and everything that you went through there. Quite interesting that this condition has, like you said, impacted the 3 of you in somewhat different ways. Dean, what has this been like for you to see this in your wife and your children?

Dean Salmon:

I mean, it’s obviously very difficult because our lives have just changed so much day-to-day. Alexander every morning has 6 to 8 syringes of different medicines. Same at night. You don’t realize how much it takes a toll on you doing all that. We’ve had to make decisions for how we need to live currently and in the future.

Everything has changed so much. Just watching Alexander have to go through treatment, surgeries, it is a lot. With Jude, he’s got his own conditions, which at the moment is just checkups, appointments, stuff like that. Also with Jude having to live through seeing what his older brother has to go through, what we have to go through. He’s very resilient. Both of them.

Kerri Fitzgerald:

I can’t imagine what that’s been like for both of you. You don’t expect this when you have children to go through something like this. Can you tell me about the importance of genetic testing and how it has impacted your family?

Stacey Carpenter-Salmon:

We are incredibly lucky that we have had access to this testing. It’s all been through Westmead Children’s Hospital in Sydney, and it’s been completely free for us. We have such a gratitude for that because we know that for every family, access to that kind of testing isn’t possible. Talking with geneticists in the States, we’re able to see that the depth and the breadth of the testing that has been done for us in Australia is incredible.

Around the world, other families just aren’t getting that much information. Our genetic testing, it sort of opened up this box of feelings and memories because we now know that my sister and her eldest daughter also have the same JAG1 mutation. What that’s allowed us to do is then look back in the family tree. Our father died at the age of 38, and he actually died in surgery to correct a structural issue within the heart.

Now we look back and we go, “Well, did dad have Alagille syndrome?” That’s been an incredibly emotional journey, I guess, to start talking about dad again and then looking at the broader family. We have another sister and having her tested. Yes, it’s been really interesting.

Kerri Fitzgerald:

I’m sorry that it’s extended to other family members. But like you said, the power of genetic testing is that you can perhaps do something or prepare yourself or learn more. I’m glad you had the ability to get testing done. What would you say you’ve done as a team, as partners, to help one another through this whole experience as well as to help your children because it really has an impact on the whole family as a unit?

Dean Salmon:

Well, I mean, we made a decision very early on. We are a team. I mean, we’re both big introverts anyway, so we’re not social butterflies. We just love each other’s company. From the beginning, we’re just like, okay, this has to be a team effort. Stacey is a lot better in studying all the medical side of stuff. But yeah, it just comes down to everything. Like in the home, there’s not chores for a single person. Some days I’ll be up making the medicine, then head off to work.

Other days, Stacey will make it. It just depends. We know what we’ve got to do together and we just do it. The biggest decision we made was probably about this time last year. A couple of years ago, we built a brand new house, a nice big family home, designed it the way we wanted. We’re sitting there thinking, it’s like, well, if anything does get worse medical-wise, we’d be struggling to pay the bigger mortgage, somebody not at work.

We decided to sell our big, beautiful home, downgraded, got a smaller mortgage. We’ve managed to reserve a bit of money in the bank just in case anything does happen. Just a bit of financial security, but also it gives us time to spend time as a family. We’re a Disney family. Whenever we can, when we’re in the States during summer, after Colorado, we went to Disneyland.

We love our Disney cruises. Selling the house has made it better to go and spend time together. We’ve been shown many times that life is short and you have to live in the now. No point sitting at home doing nothing. Just get out there, live, make memories together.

Kerri Fitzgerald:

Yeah. The experiences together, like Disney, I’m sure that’s memorable and enjoyable and just a nice time to spend together. What advice would you give to other parents who are navigating a difficult health journey with their own children?

Stacey Carpenter-Salmon:

Yeah. Look, to tell you the truth, my answer is going to be probably a bit blunt and perhaps a bit… It’s not going to be quite positive, but the main thing that I would say is be prepared to feel alone and be prepared to feel isolated, particularly with rare disease. It’s just the nature of it. You are going to find the vast majority of medical professionals will not know about your disease.

The people around you, while they will listen and they will help, they just will never understand it the way that you do because you are living it every day. That feeling of isolation can be all-consuming. Over time, we’ve made steps to reach out and make connections. But on a day-to-day basis, you really are that little family unit and you’ve really got to stick together. Understand that you will become the expert in the room with your rare disease.

You will turn up an emergency and you will direct people and tell people what is needed because they will not know. I would recommend to be very organized, be very prepared. If that just means making sure you have a folder with all of your documentation and your letters and lists of medication, if doing that little thing like getting a folder together helps you feel somewhat more in control, then that’s a really positive step. We always have a backpack ready to go in the car.

Just those little things, those tangible things that you can do where you feel like you’re in control, they’re good. This word comes up a lot and we are yet to get our heads around it, but you’re going to have to be comfortable with uncertainty. It does rule our lives. There are days, there are periods of time where we’re okay.

But every now and again, I feel like we get this wave of, wow, we really don’t know what this looks like in the future. We don’t know what’s going to happen. That uncertainty can really eat you up. We’re trying to be more comfortable with the idea, but every now and again, it really does get to you.

Kerri Fitzgerald:

Yeah, I can imagine that, you said that feeling out of control and so trying to control what you can, advocating for yourself, for your family, being that expert, right? It’s something I hear in talking with other families who are on a rare disease journey, like you mentioned, where you may not meet people who are experiencing what you’re experiencing, unless perhaps you find a group, a patient support group or a patient advocacy group.

To that end, I want to ask you about the Alagille Syndrome Alliance. You’ve connected with this organization. What resources and support would you say you’ve gotten from connecting with the Alliance that you’ve found helpful for you and your family?

Dean Salmon:

I mean, we’ve got meaningful connections. It’s just good to speak and read about other families who are going through the same thing. It doesn’t make you feel alone, but it’s reassuring. When we attended the Summit earlier, or what, mid-year now, that was life-changing because we got a lot of information from the health professionals, but also just hearing answers from other family members. It’s like, “Oh my God, yes, that applies to us as well. We’ve had something similar happen with the boys.”

It all just fits in better, doesn’t it? It’s just like, okay, we can understand why sometimes the boys get knee pain, the muscular pains often associated with the Alagille syndrome, being able to access research and information and give some of our information to professionals. Stacey is very prepared, so she had folders already made up of the genetic testing, just a detailed history of what happened to the three of us, told this away to geneticists, doctors.

Stacey Carpenter-Salmon:

Yeah, I think inherently everyone wants to belong. Making that connection with the Alagille Syndrome Alliance, Roberta Smith and Cher Bork, have really filled a gap for us. We felt so alone and really, yeah, we do feel like there’s a place where we belong and being able to fire off an email at any time of day and get answers really quickly, you feel physically lighter.

Kerri Fitzgerald:

That’s wonderful that you’ve found some connection there. You mentioned the Summit, Dean. The Cholestatic Liver Disease Summit took place this summer, brought together different stakeholders in the rare liver disease community, researchers, doctors, parents, children, to discuss the latest research and care needs. Stacey, you spoke at the Summit. What was that like?

Stacey Carpenter-Salmon:

Honestly, we’ll say that it was one of the most significant moments of my life because we’ve spent nearly 6 years now feeling like there was nothing that we could do. To be able to be in a room with the most important stakeholders related to Alagille syndrome and to have our opinion and our story validated, it was such an incredible feeling.

Yes, I don’t think I’ll forget that for a long time. We’ve had ups and downs in this journey where we haven’t felt like we were an equal voice at the table. I think what this actually did for my sense of confidence and my mental health in general was just enormous. I can’t express enough what that did for me to be able to share our family’s story.

Dean Salmon:

Weight off our shoulders really.

Kerri Fitzgerald:

That’s great. To that point about not feeling like you had a say in some things, would you say there’s any continued areas of need in the medical system, either specific to Alagille syndrome or more broadly, that you really want to impart on the medical community being in the position you’re in and what you’ve experienced personally?

Dean Salmon:

Well, I think one of the biggest things is just the mental health support. There are many times we’ve been in hospital, you go through this, but there’s no real, I suppose, holistic approach. They’ll treat you, give you medicine. Then when it’s time to go, they’ll show you the door in a nice way, but there’s no real checking in on the families, seeing how everyone’s going in day-to-day life, work-life, the stresses that it all can bring down on you.

Stacey Carpenter-Salmon:

If I can add to that, Dean, so Alexander and Jude are both autistic, and so that has molded our journey in quite a different way than it would, I guess, for neurotypical children. I think I’ve been quite surprised over the last 6 years that there are gaps in care for children who are autistic. Whether that’s going to a regular appointment, say a pathology appointment where blood is being drawn, and perhaps not seeing the understanding for the sensory needs of that child that we had assumed that was possibly there.

We have great examples of where Alexander’s autism has been validated. He has serious oral sensitivities. Quite early on, he had surgery to have a stomach peg placed so that all of his medication doesn’t have to be taken orally. That was such a wonderful validation of his needs as an autistic child, but there are certainly other areas where we were quite surprised and we would like to see it improved.

Kerri Fitzgerald:

What do you wish people or what do you want to impart on people who may not be familiar with this condition? What should people take away from what you have experienced?

Stacey Carpenter-Salmon:

I think first and foremost, rare disease is often not seen as quite as serious as I guess people need to see it as. At the end of the day, Alagille syndrome can be fatal. I guess we’ve always felt just a lack of understanding about how serious this syndrome can be and what that means for our life today.

I really wish people would understand that the stuff in life doesn’t matter. Having the pretty house with all of the things does not matter. All of the silly things that happen in everyday life, they really do not matter. Living with it, just a sense to live now and enjoy today, is really, really important.

Kerri Fitzgerald:

Yeah. I think that’s a really beautiful reminder for anyone, like you said, that the silly things don’t matter. It’s your family, it’s your loved ones that really are just so important and to try to remember that when you’re going through something simple.

We like to close out our My Hero 360 interviews by asking the same question of all of our heroes. What would you tell your younger self or yourself from a while ago knowing what you know now?

Stacey Carpenter-Salmon:

I would say first, you think that you won’t be able to do it, but you will. I remember us thinking, “Oh my goodness, he might have to have brain surgery one day.” That was the worst possible thought in the world and it is horrific, but we did it. We got through it. You can do it. Yeah, you think that you won’t have the strength to do it, but you can do anything. You really can.

I would also say you’re going to have to step up and you’re going to have to advocate for your child, and that’s okay. It’s going to be tough, but it’s going to be okay. You can do it because it’s your child. You can do it. I would also say take help from people. Like Dean said, we are introverts and people are so lovely and wonderful when horrible things happen in life. I would tell myself, “Take the help from people. You’re going to need it.”

Dean Salmon:

I suppose one of the things is you know your child probably better than most medical professionals you’re going to come across. You’ve just got to really let them know this is what’s what.

Kerri Fitzgerald:

Those are all really important sentiments. I just want to thank you both, Stacey and Dean, for sharing your story. Your experience is so important for other families to hear who are navigating a rare disease diagnosis and health journey, and surely sharing your insights will make an impact on others. I just want to thank you again for speaking with My Hero 360 today.

Stacey Carpenter-Salmon:

Thank you for the opportunity.

Dean Salmon:

Thank you very much.

–

Learn more about the Cholestatic Liver Disease Summit:  
www.liverdiseasesummit.org  
Learn more about the Alagille Syndrome Alliance: 
https://alagille.org/  

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