Finding Hope in the Rare: Jane’s Story and the Fight for Mowat-Wilson Syndrome Research

Lauren 
I just spontaneously went into labor right around 39 weeks, which is what I had done with the other ones. And everything went great. She ended up being born at home. It was a beautiful birth. My eldest, Isabelle was there. Matt was there. We had my midwife and my doula and it was great. Stormy afternoon in September. Yeah, the minute I saw her, I knew we had a problem. 

Mary  

Hello and welcome to Sounds of Science. I'm your host, Mary Parker. I'm honored to be joined by Matt and Lauren Noonan, dedicated advocates and proud parents whose journey into the rare disease community began with their daughter Jane's diagnosis of Mowat Wilson Syndrome, a rare genetic condition. Their story is one of resilience, learning and advocacy. After a challenging start in the NICU and receiving Jane's diagnosis, the family have navigated the ups and downs of life with a rare disease while raising four children. Today we'll hear about their journey, their work with the Mowat Wilson Syndrome Foundation, what led the family to launch their own foundation and their hopes for the future of research and support for families like theirs. Welcome Lauren and Matt. 

Lauren  

Thank you. Thanks for having us. We're honored to be here today. 

Mary  

Lauren and Matt, thanks for joining me. To start, could you introduce yourselves and your family to our listeners? Lauren, do you want to start? 

Lauren 

 Sure. I'll start.  

Lauren 

We currently are living in Atlanta, Georgia with our four children. Isabelle is our oldest. She is 12. Then we have Henry who is 10, Jack who is seven, and then the star of the show, Jane, who's now two and a half, believe it or not, and we lovingly refer to her as our forever baby. My background is in nursing. I worked on the labor and delivery unit here in Atlanta at Emory University Hospital, Midtown for about a decade. Some form of divine intervention had me leave that position in about February, 2020. So right before the pandemic was hard to be out of the hospital scene when that happened, but it was also a blessing because it allowed our family to uproot from what we were doing. We did the whole RV life, went out west, did some camping. We have a very full adventurous life. We've traveled a lot that's kind of settled down a little bit since Jane joined us.  

Mary  

Matt, can you share a little bit about yourself? 

Matt  

Sure. My name's Matt Noonan, the father of this crazy bunch. I don't quite have the technical background that Lauren has as it applies to this conversation. So I'll kind of jump to kind of what I do and how I fit into this puzzle. I'm a business owner. I own a couple of different businesses. I'm a very curious person and I focus a lot on building good relationships, networks, helping people. It's a passion of mine. So getting into the foundation creation piece of this has been a real, it's touching to be able to be involved with something like this. People can spend their whole life waiting for something to strike them. That's as meaningful as this is. I'm sorry. It's emotional. 

Mary  

No, absolutely. It makes perfect sense though that it would work so well with Lauren having some medical background and you having some business background. I mean, that's exactly what it takes to have a medical-based foundation. So I think that those complimentary perspectives probably bring you a lot of aid to your organization. 

Matt  

Yes. So we've been able to, God more than usual, compliment each other with this endeavor. So it's been refreshing and fun and interesting for me with my curious business brain of figuring out the nonprofit side of things. 

Mary  

Can you share Jane's story, what led to her diagnosis and how did that moment shape your family's path? 

Lauren  

Sure. The very beginning of Jane's story was actually Costa Rica. We had been doing a two month stint down there with the older kids. And I guess somewhere along the way there God saw fit to bless us with another baby. So we came home with Jane on board, surprised to us all and we were excitedThe pregnancy was, it initially started about the same as all of my other pregnancies. I am always super ill and first trimester 

On par. I had to have tons of ultrasounds because at this point I was 37 and a geriatric in their eyes. So we did all the genetic testing. Everything came back normal there. We did a lot of the ultrasounds. We had our anatomy scan. The only thing that really came back somewhat abnormal was that she had a little bit of fluid on her kidneys. Having been working in the birth world, we saw that all the time, saw it all the time, typically resolved at birth, wasn't really anything to be worried about. So we did it. We tried not to worry. Then in around the early thirties, something week gestation, I got diagnosed with polyhydramnios, which is having extra amniotic fluid. This is kind of a less common finding than the fluid on the kidneys, but still in the realm of things that they see. Sometimes it can be related to gestational diabetes, but that had been complete ruled out. So it was just one of those things that they were monitoring didn't really have a reason why I weren't really worried about it, but in my brain I was definitely starting to worry because all the other kids had been perfectly healthy. Nothing had ever come up. Now we've got these two separate issues that are seemingly unrelated, but I think at that point there was some just sort of innate knowing that we were going to have an issue. I did not want to lean into it though, and chose to just go with what the doctors were telling me, which was she looks perfect, everything's fine, all is well. And we had planned for Jane to have home birth. That was sort of the world that I was in at that point. So once these little complications got introduced, it made me reevaluate everything we were doing, we ended up making a backup plan to bring our OB from my previous pregnancies into the picture and just kind of fill her in on what was going on. I just spontaneously went into labor right around 39 weeks, which is what I had done with the other ones. And everything went great. She ended up being born at home. It was a beautiful birth. My eldest, Isabelle was there. Matt was there. We had my midwife and my doula and it was great. Stormy afternoon in September. Yeah, the minute I saw her, I knew we had a problem. My eyes trained to evaluate certain things in babies. That's what I had been doing for my career. So all the flags, her tone, her color, the way she moved her body, her cry, and then down to just, she simply looked different than my other children. Her facial features weren't something that I recognized. And so yeah, that feeling that I had buried the worry, the fear, the concern, it all just came bubbling right back up to the surface. I look back at the pictures from the birth and you can just see this look on my face. It's not what you would typically see on a mom holding her baby for the first time. But that was what it boiled down to. I was just worried, worried about what we were dealing with, worried about what was going to come next. She actually did fine initially after the delivery, but probably like five, 10 minutes in, she showed us that she needed some extra oxygen, and just that coupled with how she was presenting physically to me, I just was like ready to go ahead and take her onto the hospital and have her evaluated. So her and Matt left with. One of the midwives assistants went with them to the hospital and I stayed to recover for a little while. And then the next call I got was that she had been intubated and they had put a breathing tube in and that was really not anything that I was expecting. So I got up there as soon as I could. They had already moved her to sort of the highest acuity spot within the NICU. She was intubated on a breathing tube. They were trying to get umbilical lines in. And basically what they told us then was that she had choanal atresia, which is where there's either like bone or soft tissue or something that is blocking the nasal passageway. They weren't able to get a tube through her nose, and that was what had led to the intubation. And so choanal RE atresia is often associated with this other syndrome called Charge syndrome.  So yeah, we were devastated. We went from our seemingly normal pregnancy to NICU, intubated and  Charge syndrome. Went home that night, tried to stay in their little room and I don't know, it was just very uncomfortable and we just felt like coming home, getting grounded. Went back the next morning and they had pretty much worked their out from head to toe and we were met with all kinds of diagnoses, congenital heart defects, SVDS, PFO, PDA, she still had fluid on her kidneys. She had two misshapen vertebrae. She had a bicornuate uterus uterus. She had a deviated septum and a very stenotic nasal passageway. She had a coloboma in one eye.They thought maybe there was something going on with her gut 

Matt  

After the two weeks that we waited for the genetic test to come back. And that's when they started diagnosing everything on the headlines of the Mowat-Wilson syndrome. 

Matt  

We had every fear in the world upon us at that time. 

Mary  

Yeah. Oh, absolutely. Well, for those who aren't familiar, what is Mowat Wilson syndrome and what makes it unique in terms of medical needs? 

Lauren  

So about two weeks in, we got the call and that was the diagnosis. So Mowat Wilson syndrome is associated with the gene ZEB2, and that is located on chromosome number two within the gene itself. There's all types of different mutations that can be present from a full deletion to just a little mutation on an exon within the gene. But regardless of what it is, it really seems to have a major effect on pretty much everything within the body. 

Matt  

Neurological embryonic development, 

Lauren  

Yes, it plays a big role in neural crest cell development. So big impacts on the central nervous system. Big impacts on the gut because similar cells or eyes, brain to gut connection, they can have mild to moderate to severe heart defects. A lot of genital urinary complications. There can be a lot of kidney abnormalities and reflux and recurrent UTIs. There's the seizures and epilepsy is a huge component. About 80% of our kids and adults are affected by some type of seizure disorder, 

Matt  

Which a lot of those become drug resistant. 

Lauren  

We're not as super well versed in that yet. Luckily we haven't really, I mean, we've had some issues, but not major yet. Muscle skeletal issues. Their bodies just kind of have a different composition to them. They're all quite small. They can have small heads. Microcephaly. We have our own growth chart because the growth curve is so different from a typical growth curve. 

Lauren 

 And the other big distinguishing thing for them is their facial features. They all have a similar look with their low set bushy eyebrows. Their eyes are wide and deep set. They all have pointy chins and longer foreheads and very distinct lobes, which doesn't sound very cute when you say it out loud, but they're really adorable.  

Mary  

What inspired you to get involved with the Mowat Wilson Syndrome Foundation and what their mission is? 

Lauren  

So in terms of getting involved with the foundation, my kids were involved. The older kids were involved with a little homeschooling co-op thing at the time, and we really hadn't shared Jane's diagnosis with anybody. Everyone in our circle knew that she had one, but we just were kind of holding onto it while we processed. And one of my son Henry's, his friend's father approached me one day and he said, I hope I'm not crossing a line here, but I have this family that I kind of grew up with, I knew from high school, something like that. I'm still very close with them. And one of the girls ended up having a child with a super rare genetic disorder, and they're very involved with the foundation for his syndrome. And just off chance that it's the same thing, can I ask what Jane has? And I know everybody listening to this is probably like, wow, there's 10,000 rare diseases. 

Lauren  

What are the chances? And at the time, I think our number for Mowat Wilson was like 300 to 400 globally. So the chances were slim to none, honestly. But I was like, whatever. It's not a secret really. I'll share, let him know that she had Mowat Wilson syndrome. And behold, that is what this child, Logan had, and his mother, whose name's Jackie is involved with the foundation and her father, Al Triumpho was actually one of the founding members of the Mowat Wilson Syndrome Foundation. And they're located here in Atlanta. So he put me in touch and very quickly, Jackie I think was a little bit overwhelmed by me because I'd already started my research at this point. And I was like, okay, well alright, what are we doing? Do we have the bio repository? Do we have registry? Do we have this, this and this? And she's like, I really think you need to talk to my dad. So then Al was my next call and we got acquainted with each other and I was just trying to get a feeling for where the foundation was in their journey and what their mission was, what they were working on, variation within foundations of what their priorities are. Is it just advocacy and family support or is it research or is it all of it? And our mission is a broad one. It is. It's all the things. It's advocacy, it's family support, it's education. And we have a research initiative. So that was like Spring 2024. Al asked if I had come out. They were having a family conference at that point, at that year, which I had not planned on going to, honestly, because I was still very overwhelmed by actually looking at the Wilson Syndrome. I was still processing, kind of felt a little overwhelming to me to actually see some other children and adults in person. But I agreed to go, met all the foundation out there at that time, met our medical advisory board, was able to get a deeper understanding of how they operated. And shortly after that, they asked me to come on board, which I agreed to. 

Mary 

Well, it's been about two years. How has the foundation grown or evolved since you first became involved? 

Lauren  

A lot. They had really done a very good job of establishing the foundation and finding the people, finding the families, connecting everybody, getting some resources together, putting together the medical advisory board, establishing these family conferences that happen every two years. There was a bit of, they had at that point had funded some good research, but there was not a real plan in place for getting ready for a drug development type research and being ready for industry to find you attractive or anything like that. So luckily that was what I was interested in. So was able to join and put a little direction towards that. I would say one of our biggest achievements has been getting involved with Combined Brain. I don't know if that's something that you 

Mary  

Oh, yes, yes. 

Lauren  

That was kind of another “ah ha” moment before I was even involved. I was starting to listen to this podcast called Once Upon a Gene that Effy Parks does. And she had Terry Joe on there talking about Combined Brain. And I was already in this trying to figure out, do we have a mouse model and do we have stem cells anywhere and all this, what needs to happen next? Get going. And she came on there talking about Combined Brain, and I was like, this feels like the answer. So for people that aren't familiar with Combined Brain, it's sort of like a consortium for all neurodevelopmental, genetic, rare diseases. 

And it's meant to be a place for everybody to be able to come together and collaborate and know what everybody's working on, and sort of streamline some of the processes and things that need to be in place for foundations that are trying to get up and running and ready to be part of that bigger therapeutic developmental world. So yeah, that was the first big move that we made was getting onboarded with them. And since that we have rolled out quite a few initiatives. We're using their Print to Brain program. So we've got a scientist that is designated to Mowat Wilson Syndrome specifically. She is working on developing a strategic research plan for us so that we can really identify our gaps in knowledge. She reviews all the literature that is out there, interviews, families, interviews, doctors interviews, whoever's got any type of knowledge about Mowat Wilson syndrome, and put it all together in a nice little pretty presentation to help us decide what's next. We are also working on our own ICD 10 code, which is a big yay up until this point. Mowat Wilson Syndrome's been coated with multiple smaller things like Hirschsprung’s is always on there, even though only half of our kids have Hirschsprung’s usually something about brain malformations, something about develop something about facial features. But yeah, we're working on getting our very own code that covers it all for anybody with Mel Wilson syndrome. And the other big thing that's happening this year for us is that we're doing a big specimen collection at our family conference this summer. So Combined Brain, they have a team that will host these specimen collections. They have the process and the IRB, they've got everything already roll in, and we shuffle our kids through and they collect the specimens and then take everything they've got and establish our bio repositories. So we're going to have our own biobank finally. 
 
Matt  

One of the biggest problems is that there's a huge lack of public data and research available across the medical community to properly diagnose any of this stuff. Most of the medications that we find have a higher efficacy use of something. So it's difficult to go to a doctor, especially if you're traveling. That's why we're more grounded now, because when you go see a doctor that hasn't been following Jane, they have no idea. They look it up before they come in the room and they give you, I mean, we know what the standard thing they're going to say is now. They're like, oh, she has her sprung, so this is probably what's going on. We're like, no, she does actually, she doesn't have her sprung, but they look up what Mowat Wilson is, and it's this very generic range is the whole spectrum of presentations. And so it's very difficult to utilize the medical community to support you. You almost have to build your own specialized task force for, and I imagine that this is the same across every rare disease or most of them anyway, that are less researched. 

Mary  

Well, looking back, are any of these milestones or moments any of them have been especially meaningful for you? And Matt, feel free to chime in as well. 

Lauren  

Yeah, so if we're still talking about the Mowat- Wilson Syndrome Foundation, I think a big moment for me recently was around fundraising actually, because all previous years, all of the foundation fundraising efforts have been, everything just goes into one big pot. We're fundraising for Mowat Wilson Syndrome, and then the funds will get dispersed, however the members of the board do necessary. But we decided this year to try to do some more targeted fundraising, research specific, Make sure the community is aware of what we're trying to do, why we're trying to do it, and develop some PR around that. So for giving Tuesday this past December, December, 2025, we made all of that fundraising effort around trying to get money together to fund this big specimen collection at the conference this summer. And it was wildly successful. We were able to cover the whole cost, which I didn't really have an expectation, but I was actually blown away that we did it. And the community is behind us on trying to get up to speed with some of what the other rare disease communities are getting into. 

Mary  

Congrats. 

Lauren  

Oh, thank you. 

Mary  

So speaking of which, you recently launched your own foundation, the OURS Hours Foundation. Can you share the story behind its beginning and what your key goals are for this initiative, Matt, over to you? 

Matt  

Sure. So going back to after Jane was born, just how we got to conceptualizing this foundation as we got more involved with the Mowat Wilson Syndrome Foundation, and obviously doing our own research independently. I have a background at Georgia Tech. I did an MBA there and was fortunate enough to do a paper on some biotech for spinal surgery. And as unrelated as that sounds, I stumbled upon at the time that there was a genetics biotech focus at Georgia Tech. And so it kind of just was in the back of my head. I just looked at it briefly. They were looking at gene therapy. This was years before Jane was born. But with that in the back of my head, thinking like, man, that's like seven or eight years ago. She's got a genetic deletion, we just be able to just put the gene back in and call it a day. And that just kind of sent us down this rabbit hole of looking at these emerging technologies, kind of fringe science, so to speak, as far as the medical communities concerned and realizing that there's a lot of opportunities to explore the world of biotech and AI and how to leverage those things together to be able to come up with solutions for things that previously you're waiting on a doctor's opinion for based on research papers, which for us don't exist. Well, there are some, but it's very limited as far as publications and that being communicated to the medical community. So we found that the biggest problem that we were facing was that the Mowat Wilson Syndrome Foundation, as we were getting involved with that, it's a bigger organization, it's been around for a long time, and they do a really good job with family support, general awareness of Mowat Wilson. I mean, it was the first website that we went to or we felt, oh my gosh, there are other people that have this and there's people we can talk to. And that the sense of relief to just have that is exponential for being in a situation like that. But when you have a kid that is born and you have this problem that comes into your sphere of existence, you're doing everything possible that you can, I mean, hours of endless reading stuff that you don't understand, trying to learn what it means and navigating that space and trying to network with people who do understand it to help explain it to you. And in the world of genetics, what we found out was that there's a lot of people, doctors and academic scientists that are very hesitant to have a discussion with you about these things that are still considered fringe or not FDA compliant yet. And so I was hitting dead end after dead end. I probably called every major medical university in the United States just trying to get some information or get a lead, Hey, do you know anybody in Columbia that does this? Can we fly somewhere out of the country and have them put these jeans back in so we can make our baby whole? So that just got us into this space of, hey, and I'll say, I was listening to a podcast, I'm a big Andrew Huberman fan, and he had this doctor on and they were discussing how somebody that goes through medical school now, almost by the time they graduate, the rate of information that is being acquired at the moment as it relates to modern medicine, the knowledge that they've received is almost obsolete within the three or four years of when they get out. And that just kind of peaked a light bulb in my head, and I just went off and I'm like, okay, we've got to do something. We've got to push the envelope. We got to push the limits and figure out what options are available and how do we do that? So obviously we need funding and we need to structure to house that in. So that's I, that's the background of ours. OURS stands for Overlooked and Underfunded Research Solutions, That is a very intentional name because we're not trying to compete with Mowat Wilson Syndrome Foundation. We want to be a compliment. So our goal is to pioneer into the space of emerging technologies that we can leverage to get data to send out publicly so more people can use it to leverage other research projects. And partnering with a foundation that has the numbers, that Mowat Wilson Syndrome Foundation is a perfect compliment for us. So our hope is that the things that we learn through our explorative investigations and self-funding, some in of one studies, which is just where we're at right now in the community of Mowat- Wilson, is that we can get enough data that has enough correlation to efficacy that we can then present that to other groups to do larger samples and put that together in a more meaningful way for the community at large. Right now we have three main major objectives. The first one is to fund and conduct the academic and scientific research, what we just talked about. The second one is to partner with other organizations that have similar missions, There's information that can be shared both ways to help each other out. And then the third mission, which is something that we want to continue down the road as we are accomplishing Jane's missions, is to be a resource for other people that are in situations like us that just simply need somebody to reach out to that can, Hey, show me the way, show me what to do. I don't know what to do next, but I'm desperate to do something and use that network that we've been able to build to help other people with other rare diseases. So it's not necessarily limited to Mowat-Wilson, it's just kind of the problem that we found was being a fish out of water when you have this hit your family and not really knowing where to turn and not knowing how to push that envelope towards a solution-based research program. And then other things that we're looking into are V cell laser guided therapies, which is like a stem cell, which therapy, it's fringe science. There's half the medical community doesn't even agree at this point that V cells are even real. We're looking into seizure management alternatives, implantable devices and robotics like exoskeleton robotics that could help somebody walk that would be stuck in a wheelchair. Otherwise. Other things that we're looking at are emerging language technologies or communication devices. So these are just an example of some things that we're looking at and researching and want to try to get this big picture, not just in the genetic space, but how can we mitigate symptoms? How can we help enhance the lives of these kids? And it may spread beyond Mowat-Wilson 
 

Lauren  

The other thing that led into the OURS Foundation launch or need really was that in a very uncontrollable situation, the only thing that we had control over was our money and our kid. And there was just this sense of urgency to do something, get the ball rolling. When you're working with a larger organization, everybody's going to be on the same page. Everybody's going to approve things, and we really needed to just get something going.  So in the meantime, we got everything set up to begin the drug repurposing screen. We used Jane's skin, and then we used her older sister Isabelle's skin fiberblast as the control.  So there is some very clear indication that that drug is going to benefit whatever is malfunctioning within these cells. So that's very exciting because that gives us direction, and that's why you roll the ball, just roll out. We'll figure out what comes next. Now we've got a route, a couple different things to explore, and yeah, that's kind of where we're at. 

Mary  

And I assume that your hope for the future is more research, more drugs of interest 
 

Lauren  

Yes, that would be great. My hope for the future is that we just continue to identify our gaps in knowledge and fill them that we can identify maybe these drugs that already exist that can be repurposed for symptom management for our kids that are suffering from various things. . That ZEB2 is a kind of tricky, gene turns a lot of things off and on. So understanding the trickle down of the protein synthesis I think is one of our big gaps in knowledge that we've got to fill. Just continuing the foundation's journey to being prepared for all of these things to happen, making sure we've got all of our different variants in the biobank, having our surveys filled out for data collection so that we can be able to run clinical trials at one point. 

Mary  

Well, speaking of how people can help about people listening today, how can they support your mission? Are there any upcoming events or initiatives that you'd like to share with them? 

Lauren  

 If you feel called to contribute directly to the Mowat Wilson Syndrome community, we will take it. We’ve got the players, we've got the heart, we've got people ready to do things, but it really takes money to fund all of this stuff, and it is wildly expensive. 

Mary  

Absolutely. 

Lauren  

So monetary donations is probably the number one thing that would help the mission of the Mowat Wilson Syndrome Foundation, as well as ours foundation. Our website's up and coming, but it's very easy to find the Mowat Wilson Syndrome Foundation, very easy to follow. The links to donate there. 

Mary  

So just take a peek down in the show notes and you'll be able to find those links. And before we close, is there a message that both of you would like to leave with listeners? 

Lauren 
I just want to say thank you. I mean, if you're here and you're listening to this, then you're my kind of people. We love that there are people in this space and the rare disease world. In the science world. I have so much respect for people that are doing this work. I've learned so much just about disability and what that means and what these people bring to the world. And I encourage everyone to have an open heart and an open mind to people that are living these lives and on this journey. And as much as we're sitting here talking about how to fix it, they're also just such lovely contributions. They're wonderful. We didn't even really get into that, but they're sweet and kind and loving and have a place on this planet, and all we're trying to do is kind of relieve some of the burden of their symptoms and ultimately the burden on the caregivers. 

Mary  

It can be a burden, but of course, as you've realized yourself, it can also be a blessing and a way to expanding your mind to all the things that are happening out there in the world. What about you, Matt? Ditto for you. 

Matt  

Yeah, I mean, I would just say if you have a rare disease kid, everyone has challenges in their lives and we all have to get up out of bed and put one foot in front of the other, there's a lot that we can do. We need a lot of help. And so don't feel like you can't affect change in this space. There's a lot of emerging technology. I mean, year over year, what's changing is incredible. So stay hopeful, stay optimistic, and we're going to get all through this, get involved. 

Mary  

Well, thank you both so much for joining me and for talking about your family's journey. It's been a real pleasure talking to both of you. 

Lauren  

Same. Thank you. Much. Thanks for having us.  

Matt  

Thank you, Mary. 

Mary  

That wraps up today's episode of Sounds of Science, a heartfelt thank you to Lauren and Matt for sharing their family's journey and their vision for a brighter future for everyone impacted by Mowat Wilson Syndrome. If today's conversation inspired you, we invite you to learn more, get involved, and help support the incredible efforts underway to advance research and bring hope to families living with rare diseases. Stay tuned for the next episode of Sounds of Science. Until then, subscribe to Apple Podcasts, Spotify, Stitcher, or wherever you get your podcasts. Thanks for listening.