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Episode 86: Melissa Vaught - PURA Syndrome
21 Plays3 days ago
Melissa it the mother of Taylor, who lives with Pura Syndrome, an ultra-rare neurodevelopmental condition that went undiagnosed for 23 years.
Melissa shares the emotional weight of living for decades without answers, the moment of finally receiving a diagnosis, and how uncertainty transformed into purpose. This conversation is a reminder that rare disease stories are not only about struggle — they are about resilience, discovery, community, and hope. Melissa speaks beautifully about seeing beyond limitations, recognising Taylor’s intelligence and individuality, and finding meaning through her work with the Pura Syndrome Foundation.
It is a moving episode about motherhood, purpose, and the extraordinary strength that grows from love.
The song that Melissa chose is Blessings by Laura Story.
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Transcript
Introduction and Personal Story
00:00:00
Speaker
Hi, I'm Sylvain Bertolo and you're listening to On One Condition, a podcast to raise awareness about health conditions by listening to people who leave them every day. My guest today is Melissa Vogt and we're going to talk about her daughter Taylor and Pura syndrome.
00:00:18
Speaker
Hi Melissa, thank you for joining me. How are you doing? Hi there, thank you so much for having me. I appreciate it. Well, it's a pleasure. and as you know, like starting with a song. So which song did you choose and why?
00:00:32
Speaker
I chose the song Blessings by Laura Story. It's a song that resonates with me because it's about finding your purpose when you're dealing with unexpected trials and accepting that God's plans weren't always you know what you had planned. I like to say that God has a way of evolving you into your purpose. We're not exactly where we thought we would be as far as you know career paths and such, but we're absolutely where we are supposed to be and that Taylor is a light and she is our blessing. So that's why I love that song.
00:01:06
Speaker
Nice. That's a very nice message to start with. I love it. so I've got plenty of questions for you because like many, I'm sure I hadn't heard of Pura syndrome before i spoke to you.
00:01:20
Speaker
Could you tell us where the journey started for you and Taylor, especially when she was diagnosed and and what was the diagnosis journey? Sure.
00:01:31
Speaker
Taylor, um when she was born, within the first few days, it was pretty noticeable that she had issues. She was medevaced to a larger hospital, spent six weeks in the intensive care unit, and we were discharged with no diagnosis, which stayed non-diagnosed until Taylor was actually 23.
00:01:52
Speaker
And we were part of a epilepsy panel. I just kept asking for more testing because I had a pretty amazing endocrinologist that said he really suspected was a metabolic syndrome due to her endocrine currentn issues. So I kept advocating, you know, when she was born, her genetic testing, everything came back as normal, but the testing has just gotten gotten so much better with the whole exome and the whole genome testing.
00:02:17
Speaker
So she was part of a panel and I remember ah the neurologist just handed me this sheet and said, oh, look, they found something. and at the time, you know i had never heard of Pura either. was pretty new. It was first found in 2014. So when Taylor was diagnosed, she was 44 in the world.
00:02:36
Speaker
So it was extremely rare. we do have now around 850 known, but he gave me this sheet of paper and I went out to the car and I just read it and I couldn't believe how like every little thing on there down to having hiccups in utero, everything was just like, this is it. And i was, you know, excited and but still in tears, I called my husband and he was, I don't understand why you're so upset at this point. You know, we weren't like a ah child in the first few weeks of life getting this diagnosis. We knew that Taylor had, you know, profound developmental delays. And I just felt a sense of like community. i immediately went on to the Facebook group and join that. And, you know, I love that. It's a great a resource for the families to ask questions and get advice. And that's when I started volunteering with the Puro Syndrome and eventually joined the board. And I'm now the vice president of the Puro Syndrome Foundation. So for me, it's it's been an ah huge point of purpose in my life to become involved.
00:03:40
Speaker
Yeah, I will come back to that because I think the the work you do with the Pura Syndrome Foundation is incredible. But 23 years without a diagnosis, how was that? And was it a constant search over diagnosis or were there times where you just gave up in a way?
00:04:02
Speaker
I mean, I would say both, you know, pockets of both. There were definitely times where I thought, and you know, I must have just done something wrong. Maybe I wrapped her too tight as a baby, you know, didn't give her enough water until she was medevaced in at three days old.
00:04:15
Speaker
But as her delays became, as she got older, she developed epilepsy and we realized this wasn't just a slow start. This wasn't just like a preemie baby that was having issues. you know, in the NICU, this was a significant condition for her. We just didn't know what it was.
Understanding Pura Syndrome
00:04:32
Speaker
And more about Pura, it's a neurodevelopmental, so it affects the way the brain develops and it manifests in the kids with hypotonia, low muscle tone, staph, speech delays, a lot of the kids are actually non-verbal, gross motor issues, of course, because of the low tone and unfortunately seizures. And every child is different, but each of them faces real challenges.
00:04:56
Speaker
How bad is her epilepsy? It's better now, more under control, but we never go a week without a seizure. Sometimes there's daily four to five tonic-clonic seizures in a day.
00:05:08
Speaker
They've kind of manifested in different ways from starting out as absent seizures and on to drop seizures, then unfortunately the tonic-clonic seizures. And one of the things the foundation is working on is figuring out what the triggers are.
00:05:23
Speaker
so we can know what better medicines to treat instead of just throwing each and every medicine at this child, you know, figuring out what is triggering it. And with Taylor, it's taken me a while, but we pretty much figured out that with her, it's any rapid change in her nervous system, especially like pain or stimuli like that.
00:05:42
Speaker
Okay. How do you communicate with her considering she's nonverbal? Yeah, i like to think that I understand almost everything that she's trying to come across. It is difficult though. Sometimes she recently had a surgery and I could tell she was in pain, but I didn't know where it was the source of the pain. She does have an eye gaze computer and while she likes to use it, she likes to say, i am bored, I am bored, I am bored over and over.
00:06:12
Speaker
She also kind of really likes the fact that I'm her person and she gets, you know, she has a lot of anxiety when I'm not around because I'm her person. I'm, you know, her security. I understand her needs best.
00:06:26
Speaker
So while I encourage her to do the eye gaze computer and she actually recently we went to this clinic in California and she's always loved when I read to her. My dad is an English professor.
00:06:38
Speaker
But I never really realized that making these, the words larger, that she actually knows her, you know, we started with this program that they developed for the Doman Learning Center. And we just did really big words and hold them up. And every day, like going through these flashcards. And finally I started be like, where's the C, where's the T? Like she knows her letters. Like she's, she's very intelligent. She's just unfortunately like trapped with her muscle control, kind of like somebody that has stroke where they understand what's going on but motor junction, it just isn't sending the right signals to her muscles to activate the response.
00:07:14
Speaker
Yeah, it's interesting because like you talked about developmental delays, but actually with someone who's nonverbal, it's very difficult to judge the stage of development. And it sounds like she can understand and she can communicate.
00:07:34
Speaker
Is there a point where you realize where that she's further than you expected in terms of development?
Communication and Development
00:07:42
Speaker
I think especially when I realized they were asking me to have her point out the letters and I was like, oh, there's, you know, she's not going to be able to do that. And she instantly, and I'm talking 10 out of 10, she got every letter correct.
00:07:55
Speaker
And it kind of, you know, was important for me to realize that I need to treat her differently. More as the adult that she is, you know, I know she's going to be my child, but this is a human being that deserves the respect of the age that she is.
00:08:12
Speaker
You know, I always tell the newly diagnosed families, don't underestimate, don't put any, you know, don't listen to what any doctor says. If it's like, this is the way it's going to be. You never know. We have some pure children that actually walk and talk. So never put those expectations on your child just every day.
00:08:29
Speaker
Try for a new goal and, you know, have optimistic goals for these children that you never know. They surprise us. There's so many of these pure kids that are surprising us every day.
00:08:41
Speaker
Yeah, yeah. And you talked about the community and we we'll get to the the foundation itself, but is there now a bigger community thanks to the and full genome sequencing? Is it easier for families to get a diagnosis?
00:08:59
Speaker
it is it definitely depends on the country they come from as far as the access to the testing. I've actually lobbied in the United States for better access to the whole exome testing.
00:09:13
Speaker
We have a bill proposed now to any child that's in the NICU that has you know significant issues where they wouldn't be in the in the you know neonatal intensive care unit without that, that they should absolutely have that available to them. And the reason that it matters are there are some things when you get this diagnosis, As overwhelming as it can be, we have found some things that help with like the respiratory issues that most of the purer kids have in the hospital.
00:09:39
Speaker
They're having apnea episodes. Some even require a trach. So we've developed a few protocols for that, which which helps the child to ultimately be able to go home on either small amounts of oxygen or not at all due to these easily readily available repurposed drugs.
00:09:57
Speaker
yeah And do you know if catching it early would help with development? Well, I think finding it early definitely highlights to the parent and the therapist what areas are you know, going to be needed to work on it's you know, all of our children have some type of low hypotonic muscle tone. So starting therapy early is definitely going to be important.
00:10:23
Speaker
ah Taylor finally learned how to walk. When I went to, i visited a intensive therapy clinic in California who they just really pushed her. you know, typical therapy here, say at school and whatnot is a half an hour, maybe once or twice a week. Well, this was like all day long, four weeks in a row, intensive therapy. And I advocate for that for any parents that have the ability to go to a clinic like that, because it really worked for Taylor. They had her from absolutely no walking to up and walking after our second session, second four week session.
00:10:56
Speaker
Wow. How old was she? She was eight. Wow. That must have been a big change for her and for you as well, actually. Yeah, it was.
00:11:07
Speaker
She could walk, albeit clumsily. like We would stand right there, but we she was pretty excited and and she was able to walk for a really long time. Unfortunately, as the seizures progressed and as she got taller, along with low muscle tone and increased height, came scoliosis. So now, um yeah, that's walking is definitely a struggle. And she's mostly non ambulatory, but she was able to walk for many, many years. And that's a goal, I think, for all of the Pura kids.
00:11:37
Speaker
Yeah. Going back to her epilepsy, so you talked about treatment. Is it something that you're still exploring treatments for her?
Foundation Goals and Research
00:11:49
Speaker
You talked about reducing quick change in in her environment. but Is there any hope of a treatment for Taylor? Well, I believe so. We have funded many research projects this year, and one of them is a mouse model ah specifically just to study epilepsy. Like I said, if they can find the triggers, the biomarkers that will indicate hopefully which area of epilepsy drugs, as you probably know, they they do different things. So finding a common trigger
00:12:21
Speaker
common biomarker would be incredibly helpful to come up with a treatment protocol. With Taylor, after trial and error, I have found ah certain medications that work for her to keep it under control and just keeping her pain under control. um She dealt with some kidney stones. We figured that out. So if I keep that under control, like she she can have a wonderful, you know, weeks at a time Yeah.
00:12:47
Speaker
So tell us a bit more about the Pura Syndrome Foundation. Why did you get involved with the foundation to start with? The Pura Syndrome Foundation was founded by actually, as most rare disease organizations, by a group of parents.
00:13:04
Speaker
Unfortunately, with rare disease, it's so underfunded and under-researched. it usually ends up being the parents of the children involved that start the advocacy progress. So I started out initially just helping organize the family conference. We do a research family conference every year that brings the researchers together to do presentations. And we like to family centered engagement, things to help them out, like do therapy techniques. And it's just a great time of collaborating for the families to all meet each other. So I started with that. And then, um, was on the Grants Committee. And then in 2023, was asked to join the board and then was named the vice president of the Pura Syndrome Board. And we have an amazing board.
00:13:47
Speaker
We have a neuroscience PhD whose son has Pira, who's on the board and has really helped propel the research. An amazing conference planner who did conferences for Harvard Business School. And she just fell in love. We actually hired her and then she fell in love with the Pira kids and community and joined the board and now just does it voluntarily. Amazing co-presidents, just lucky to have such a ah group that works well together.
00:14:12
Speaker
What's your goal with the foundation? Well, we like to focus on research, education, awareness, and bringing the families, like I said, together, giving them a sense of community, a place to know that they're not alone, and to know that we are actively working on these things to further. I think it's really important.
00:14:33
Speaker
We have a new registry, and we're working on We have a biobank in Germany and we just signed on for one in the U.S. And every family's participation in these just brings the research one step further so that we can have better answers. We need to know what the kids are, you know, what they're they're dealing with that's affecting their lives the most. Is it the epilepsy? Is it the communication difficulties?
00:14:59
Speaker
Is it the hypotonia? And that way we can move research forward in that direction to help the families. Yeah, you've mentioned research a lot, and I'm very interested in the kind of research you do. Could you tell us more about that?
00:15:15
Speaker
Well, I am definitely not from a science background, but we're pretty proud this year. We actually funded 250,000 in research projects, and we are doing different mouse models that aren't just knockout mouse models. We are doing gene therapy,
00:15:31
Speaker
We are working on communications. The foundation in Australia is working on a ah really important communications study. And then just understanding the lack of the Pura protein in the brain and what it does, just understanding Pura more is one of the the research projects. So a lot of exciting new research collaborations with different labs across, you know, globally. We have them in different countries and in the U.S. Very excited, I think, as a board of what's happened this year.
00:15:59
Speaker
Yeah, yeah I'm very curious how, as a foundation, you get to be able to fund research. Because I imagine that, well, first of all, you need the money, obviously. But then it's finding the ways to get researchers interested in doing that. So how do you do that?
00:16:21
Speaker
Yeah, you're right. It's not just about the money. It's like we we took it very seriously like when we put out for the proposals which ones that we should fund because we know that this money came from a lot of it from the Pura families themselves. So it was really important that we did our due diligence with that.
00:16:37
Speaker
And we did a ah called around actually to the families to see like what areas are affecting your kids' lives the most, what areas would you like us to focus on? And that was pretty helpful.
00:16:50
Speaker
And then finding the labs, like you said, that are working in rare disease was helpful. I reached out to them. You know, we go to ah different members of the board are going to different conferences, the global genes conference, rare disease fairs, and just that networking to get researchers interested in Pura. And that's been helpful.
00:17:09
Speaker
We've been lucky this year to meet a lot. You know, in rare disease, you notice that it's like a community, even though this might be this rare disease and this might be this rare disease, everybody works together. And I've been fortunate. I met a lady, Carolina Sommer. She's the founder of Born a Hero.
00:17:26
Speaker
and it's a bone craniofacial disorder, but she collaborated all the rare bone disease under an umbrella to create a larger, you know, networking together foundation. And she is the co-founder of the Northwest. And now it's the rare disease Alliance because they're doing rare disease fairs across the United States. But she was extremely helpful. Like now anytime I'd say, Hey, do you know somebody that is good at this? Do you need know somebody that's doing this? And she immediately would like,
00:17:55
Speaker
meet with me, connect me with the other people and other members of the board of through going to these conferences and whatnot have had the same situation where other people in rare disease are just extremely willing to
Community Collaboration and Future Research
00:18:06
Speaker
help you. We onboarded with Combined Brain and they believe there's more than 75 patient advocacy groups right now under that umbrella. And we have monthly meetings, different topics, and everybody's just willing to share, like the Rare Epilepsy Network as well has the monthly meetings. And anything that, you know, any roadblock that we come up against or any area that we're just not super familiar with, we reach out and, you know, vice versa between the patient advocacy groups. So it's it's been really nice to see the heart and everyone working together to help all the different foundations.
00:18:43
Speaker
Yeah, and of fa I've heard many times the great community within rare diseases. But it's interesting because I didn't really realize that you have your own purer community, but then you also have other communities. And it sounds like it's an incredible network of people who are just there to to help each other. That's amazing.
00:19:08
Speaker
No, absolutely. I think for many years, my husband was on the board before me and they were just running to against things that you don't know. You don't know what you don't know. So, you know, collaborating with these and going to these conferences and people that like, they're like, don't recreate the wheel. This is where we went wrong. And you could go, Oh, you know, I see that, you know, we need to move more, maybe more in this direction. So it's been incredibly helpful to the board as a whole for us all to collaborate with other organizations.
00:19:36
Speaker
Yeah. Do you have a path forward in mind for moving from what you're doing in and with animal models to human research?
00:19:49
Speaker
Yeah. You know, I think working on the clinical trials, I think the drug repurposing, we don't like to use the word cure. We do have hope for the future for the kids. Yeah. But the drug repurposing is more of a hope. You know, if we can get the correct models and you can run now with the help of AI, there's much more gene targeted therapies and it's you know no longer theoretical that that is a possibility. The pura protein is ubiquitous throughout the body. So it's involved in many systems in the body. It is going to be difficult to find it an exact targeted ah gene therapy, but that doesn't mean that there aren't many different research opportunities with drug repurposing and whatnot. So i think the path forward is just finding...
00:20:35
Speaker
commonalities, you like I said, areas in the seizure triggers, things like that, that we know we can focus on. And they can also look further into the Pura protein and what the, you know, it's a loss of function for Pura syndrome. So what that looks like.
00:20:53
Speaker
Drug repurposing is, especially for rare diseases, it's such an area full of hope because you don't have to redo the full research, I imagine. And you can hopefully benefit from something that is already on the market. So it should also be quicker to to access.
00:21:14
Speaker
But do you need to still do some level of of clinical trial with drug repurposing or not? Yes, especially if it's an expensive drug. We've encountered that this year in particular.
00:21:27
Speaker
And that's why collaborating under this umbrella with Combined Brain has been helpful because the patient advocacy groups can work together to reduce the cost of of the clinical trial.
00:21:38
Speaker
But yeah, if you have a ah drug, for example, that can be over $100,000, Taylor's neurologist can prescribe it, but insurance isn't going to cover it. So you have to have a clinical trial to prove the efficacy of the drug.
00:21:50
Speaker
Have you already approached some pharmaceutical or biotech companies who would be interested in working with you on that? We are definitely working with industry partners, but we haven't, as of yet, the the two that we are using for the kids in the neonate area, they are inexpensive, easily accessible drugs. So we haven't needed to do a clinical trial for that. We, I think, are waiting on...
00:22:19
Speaker
these research projects this year to see if we go ahead with ah a more expensive clinical trial on a different drug that might be helpful for the Pura patients. But we want to wait. We don't want to spend money where it doesn't need to be spent. We want to wait and see what the researchers come back with and pretty excited. We have a conference in Munich this June, and it's the opening of the German biobank at Helmholtz University.
00:22:44
Speaker
And then next year we'll be back in the US and we hope to have all of those researchers giving a presentation on what they found. Wow. I'm sure you're looking forward to this one. Definitely. well We're very excited.
00:22:57
Speaker
and ah It's been an amazing year.
Advocacy and Awareness
00:22:59
Speaker
So looking back at where your journey started and now you you seem so knowledgeable about what is the realm of possible, I would say, with the foundation.
00:23:12
Speaker
Did you have the qualifications before or is it something that you learn on the job? No, definitely not. My background is in communications and sales. Like I said, we did have someone join the board this year that has the science background. And we do have a lovely research advisor that is the uncle of a Pura patient that has a background in in this. So that's been helpful. But I mean, it you know, it's it's funny when I'm speaking at different rare disease events, I always say that you go to these doctors and these specialists and they say something to you. And I think they think they're giving you a compliment, but it's not what you want to hear. They'll say,
00:23:46
Speaker
wow, you are the expert in Pura. You know, you were speaking like a doctor and I don't want to be the doctor. I don't want to be the expert. I mean, it's unfortunate that most of us have to become the experts. I've met so many amazing patient advocacy group leaders that you would just, you're just blown away by their knowledge. And what I like to say is, well, I am knowledgeable about Pura. I'm not knowledgeable about any other medical condition and I think hopefully with this research and bringing more awareness to the doctors, we can finally have a new group of Pura kids that go to the doctors and the doctors are like, let me help you out with this, you know, yeah but here's a protocol. We are working just, you know, to do the toolkits. I don't want anyone to just go blindly through the first 23 years like I did. So I feel like, like I said, it goes back to that song, the blessings, just finding your purpose in life. And it's, you know,
00:24:40
Speaker
I never feel sorry for myself. I sometimes feel sorry for Taylor, but she's just, our kids are so happy. The pure kids as a whole are just the happiest children. And we're always blown away at the conferences of their just beautiful smiles and then you light up the room. So finding this purpose has helped, you know,
00:24:57
Speaker
Definitely not. where The area, definitely not science is not where I thought I would be, but that's not really what I bring to the foundation. I i do more of like the networking and collaborating and um you just learn to pick up little things that make you sound like you know what you're talking about science. I definitely do not.
00:25:13
Speaker
yeah That's your background in sales. Exactly. And it's amazing to hear that you say that the Pura kids are are so happy.
00:25:25
Speaker
you think people see that? Or do you have to fight stigmas about while children or adults like Taylor?
00:25:36
Speaker
Well, I think everybody has, you know, that's pretty common to fight that. I do think as a community, we all realize that our children are extremely happy. And there are some children that have some behavioral, but as a whole, um the Puri kids are extremely happy, which makes you feel better as a parent that, you know, just keeping Taylor happy, safe, protected, engaged. You know, we like to, I'm We do an outing every day. She loves her family. She loves her brother, her new niece. And she, you know, she's just an extremely, every single morning, I feel like I am so blessed. I go in to get her and she just has this massive smile on her face. It makes me think, okay, I'm doing something right, you know? Because you always judge yourself. Am I doing enough? Am I doing it wrong? My husband always says, you know, you can't do the what ifs. i You know, I do a lot of the what ifs. You just have to do every day, day by day and look to the future. So you can't recreate the past.
00:26:35
Speaker
No, no. I've got one last question for you.
Personal Reflections and Conclusion
00:26:39
Speaker
What's your or Taylor's happy place, place where you feel at peace? Oh, Taylor's Happy Place is definitely over in Lake Chelan. She has a swimming pool and she loves to surround herself with her family. I have six brothers and sisters or cousins.
00:26:56
Speaker
And whenever I say we're going to Lake Chelan the weekend, we do a countdown day by day. And she's just, I mean, she knows the days, you know, she is, she gets so excited. So I think swimming with her family and her cousins is definitely Taylor's Happy Place.
00:27:11
Speaker
Amazing. So that makes it my happy place. And my husband so she's happy. We're happy. That's all. you You get to the point in life and it seems so simple, but it's so true. If Taylor has a good day, then we have a good day. It's as simple as that.
00:27:25
Speaker
Amazing. Thank you so much for joining the podcast. I really enjoyed our conversation and it's incredible the work you're doing with the Pura Foundation.
00:27:38
Speaker
But also, like I didn't realize that network of of rare diseases and What you described, it really feels like rare diseases one by one are not big populations necessarily, but together it's a strong force.
00:27:56
Speaker
I love that. Well, that's what we're hoping for. Yeah. Working together to to raise ah awareness and build policies, just tools that make it easier. you know, I can't stress enough that rare disease is larger than AIDS and cancer combined, but it's just completely under-researched and underfunded. So we have to advocate. We have to be, they call us the tiger mamas. You're right. Like we have to to be the voice for our children. Yeah.
00:28:23
Speaker
Amazing. And i'll I'll keep an eye on the research that you do because I'm really interested. Thank you so much. Thank for the opportunity to share awareness about the Pura Syndrome Foundation and about Pura and about my beautiful daughter, Taylor. I appreciate it.