Smiles Included: Navigating through life with our rare disease superheroes
Smiles Included: Navigating through life with our rare disease superheroes
Cynthia Lang: Inspiring Progress in SKDEAS Research & Treatments
Get ready for an inspiring episode of the Smiles Included Podcast as we welcome back Cynthia Lang. She returns with a heartfelt update on her ongoing quest to find a treatment for her son, Sebastian, and shares exciting news about the Skraban-Deardorff Syndrome Foundation's role in advancing this critical research.
Discover how Transcripta Bio, formerly known as Rarebase, is making significant strides in rare disease research through innovative drug repurposing techniques. Cynthia’s journey began over two years ago, and the groundbreaking work of Transcripta Bio is bringing her closer to realizing her dream of a treatment for Sebastian.
Tune in to hear about potential breakthrough drugs and groundbreaking collaborations with leading doctors and institutions that could transform the future for the rare disease community. Cynthia will also offer guidance on how you can get involved and support this vital ongoing research.
TranscriptaBio.com
Please visit SKDEAS.org for more information about Skraban-Deardorff and how you can support our superheroes.
This is Emily Beauclair and you're listening to the Smiles Included podcast navigating through life with our rare disease superheroes. Hi everybody, it's been a little while since I've done a podcast, so I'm excited to have Cynthia Lang here with me today. Cynthia was my guest on my very first podcast episode over two years ago. I was in a very different headspace at that time. I had just gotten Joe's diagnosis, the Skraban-Deardorff Syndrome Foundation was just starting out and Cynthia was just starting a journey to find a treatment for her son Sebastian out, and Cynthia was just starting a journey to find a treatment for her son Sebastian.
Emily Beauclair:A lot has happened over two years and Cynthia is going to give us an update on Sebastian as well as talk to us about some breakthroughs in that research project to find a treatment and how the SSkidius Foundation has joined Cynthia and is supporting the goal of helping these rare superheroes.
Emily Beauclair:Welcome, Cynthia. It's been two years since I last spoke with you on the podcast, but I've had the pleasure of actually meeting you in person twice, along with a lot of the other SKDEAS families, but I brought you back for a really important reason. But before we get to that, how are you doing and how have the last two years been to you?
Cynthia Lang:It's been a journey throughout these two years, as I know it's been for all of us. Our main focus during this time obviously has always been Sebastian and what can we do to help him with the resources that we have and what's available to us. And Sebastian has made some great progress. He has been going to school and he's been continuing with his ABA therapy. We've been focusing on his potty training and he's made great progress in all those areas.... so mewhat.... we heard some great potty training tips at the conference that I know that we're all struggling with. But you know, throughout this time, we've also obviously been keeping our pulse on what are we doing long term to help him and with the research that we've been doing with Transcripta Bio, who is formerly known as Rareb ase. So I'm really excited to share more information with the SKDEAS community on that.
Emily Beauclair:Great.
Cynthia Lang:He's eight years old now, yeah, so he just started school again this week and he just went into second grade.
Emily Beauclair:Oh, exciting, very exciting. So just overall, he's still happy-go-lucky, Sebastian?
Cynthia Lang:Happy-go-lucky Sebastian. A lways laughing and smiling. So that's the one positive about all of this. I don't think we could have asked for a better demeanor.
Emily Beauclair:You just mentioned Transcripta Bio. So when we spoke two years ago, a lot of people were very interested in what you had to say about Rareb ase, which is now Transcripta Bio. So I want to make sure that's very clear that everybody knows we're talking about the same company. Can you remind us a bit about what Transcripta Bio is and why you got involved?
Cynthia Lang:Sure. So Transcripta Bio, who was formerly known as Rarebase. They're a biotechnology company and they're based out of Palo Alto, California, and they work with rare disease organizations and families, essentially on drug repurposing research. So their mission is to charter a faster path in drug discovery to create better lives for the people that they work with. So essentially what they do is they take already existing drugs and test them to see will they make any impact on a particular gene. T he example I like to use is similar to how Latisse was originally created to treat glaucoma, and it was a happy accident that we found out it also grows your eyelashes. Transcripta Bio is also looking for that happy accident and that's the work that they do.
Cynthia Lang:So when we originally received the diagnosis for Sebastian, we knew if we were going to have any hope of significantly changing his outlook, we would need to treat the genetic cause of his condition. Considering how rare Skraban-Deardorff Syndrome is, we knew that no drug company will ever develop a treatment because it's simply not financially advantageous for them to do so. So that means we're on our own to figure out a path. So when I started researching genetic treatments, I knew there were really only a few options and most are incredibly expensive, including gene therapy, which costs millions of dollars and many years to develop. So for us and our family, the only other option that we felt we had was drug repurposing, since these drugs are already approved and could potentially be given to him in time to make a difference. So, although we knew it would be costly, we knew that we would never regret doing everything that we possibly could to change Sebastian's life. So we set out on a search to find a partner and came across Transcripta Bio.
Cynthia Lang:Really, what they do is they're able to do this drug discovery research at a speed that no one else can do and at an efficiency that no one else can do. So they dramatically reduce the time it takes to discover drugs, not just for rare diseases, but really any drug that treats conditions involving gene expression. And, as you can imagine, they've become incredibly popular as their name has been spread in the rare disease community. So we were also fortunate that we started work with them pretty early in their own development, as now there's a wait list right to get in contact with them and start this work. So we're fortunate that we started what we did. I'd also been put in contact with them through other families that I met who started work with them, and they did discover drugs to help their particular genetic conditions, and I've personally seen kids who have gone from being completely non-verbal to speaking in full sentences in a few months once they've started the drugs that they've helped discover. So it's, it's miraculous right.
Cynthia Lang:We're hoping for our own miracle too.
Emily Beauclair:And I spoke to them after our last conversation and I remember being a bit shocked by the price tag, but it is one of those things where you don't want to regret not doing something that might help your child. So where you are today, was it worth the price tag?
Cynthia Lang:I would have paid.... Let me say this there's no dollar amount that someone could have told they could have told me it's going to cost you a billion dollars and I would say sign me up, I will figure it out. They could have told me it's going to cost you a billion dollars and I would say sign me up, I will figure it out. There's no dollar amount that they could have told me that would have prevented me from moving forward, because I knew we have a window.
Cynthia Lang:You know, Sebastian's young enough that if we get something to him in time, it can significantly, it could change his life. I know that I will never regret spending those funds on Sebastian, no matter what it takes, and we have sacrificed a lot as a family to make that happen. Um, but that's nothing compared to the quality of life that he may have, um, if we're successful, and that's worth everything to us.
Emily Beauclair:And last time we spoke to you, it was the very start of your journey and you had very high hopes for the research. Now, two years later, can you give us an update? Have there been any breakthroughs?
Cynthia Lang:Yes, yes. Well, I am thrilled to report that we actually have found a drug that we believe will impact WDR26. In our studies, this drug has been shown to overexpress this gene, so essentially making up for the bad copy of the gene that isn't functioning correctly. The particular drug that we've discovered happens to be a chemotherapy, although a mild chemotherapy, and it's an oral drug, so not something that has to be infused. However, obviously, the thought of giving our children a chemotherapy drug that they would have to take for the rest of their lives, that's a scary thought and, you know, all of us would have that reaction.
Cynthia Lang:So since we've discovered this drug, we've done additional studies to see what is the lowest dosage that we can give and yet it still be effective. So we want to make sure we are giving the lowest dose we possibly can give and we've completed that particular study. And the good news there is that the dosage we have discovered that is the lowest and still effective has already been studied in children. There's a pediatric study that's been published for this drug and it's been proven to be safe, so that's great news for us. However, in full disclosure, this drug has never been tested over a lifetime for children, right, and that's the unknown, that we don't know, and we want to do everything that we can on our part, in partnership with you know, different clinicians, to learn what are those considerations that we need to think about when thinking about taking a drug like this over the course of a lifetime, and what are the things that we need to look out for and know about before we start that journey. So that's what we're in the process of doing now.
Emily Beauclair:It's definitely a lot to think about, you know, what drugs you want to put into your kid's body. W hat has this process been like for Sebastian so far?
Cynthia Lang:So, we had to submit a skin biopsy sample. S o myself, Sebastian's dad and obviously Sebastian. An and from this they were essentially able to grow stem cells that they grew into neurons so that they could test these different drugs against Sebastian's neurons to see what would work. So, fortunately, in terms of, from a physical perspective, what was required, it was pretty limited. Once we submitted those skin biopsy samples, they took care of everything else from there. Throughout these two years, though, it's obviously been an emotional journey, as there's been ups and downs throughout the process and we've, you know, we've ran into dead ends and had to look at different strategies along the way. But if it was all fruitful and led to this discovery, then obviously it was all incredibly worth it, um, but it definitely had its ups and downs along the way.
Emily Beauclair:Yeah, and so you've been very careful so far of not naming what that drug is and we can talk about why, but one of the one of the things I wanted to talk to you about also is the Foundation. Did we have the foundation when we spoke last?
Cynthia Lang:I don't think we did, or we must've been very early in discussing it.
Emily Beauclair:Well, we definitely have a very strong foundation now. T he Skraban-Deardorff Syndrome Foundation. It's done a huge amount over the past two years to raise awareness, raise money. You know, the parents and everybody that's gotten involved in the foundation have just shown up in full force and it's been amazing. And you know, one of the things that we heavily do is raise funds and sometimes I struggle, when we're trying to do these fundraising campaigns, to explain what we're going to use the money for. A nd I think this is one of those things where we have something tangible that we can talk about. So can you speak to some of what the foundation is talking about doing with Transcripta Bio.
Cynthia Lang:Yeah, absolutely so. All the research that we had done to date obviously was very specific to Sebastian. It was taking his particular cell types and his particular mutation to test these drugs against this. So when we discovered this drug, we approached the foundation and said we think this is a great opportunity to expand on this research. And what we want to see is, is this drug also going to be effective in different cell types so that we could reasonably determine is this going to be effective for more than just Sebastian, right?
Cynthia Lang:So we approached the foundation with this and they were very excited to do this work, and I'll be forthcoming and say it's not cheap to do this kind of research. The foundation spent tens of thousands of dollars to pay for this. But I'm happy to report that we did get the results back from that study and it was shown to be effective in a different cell type. So we feel good that this would be effective in more than just one type. Obviously, we can't say with full confidence it would work in every single type of you know cell type, but it's very promising to show that it is effective in more than just one.
Cynthia Lang:Yes, and you know, when we started this work with Transcripta Bio, obviously our main focus was Sebastian, but it was our dream to you know, know make an impact for the entire community. So seeing that this would potentially be effective for the group at large is so exciting and we're so happy that the foundation has gotten involved. And I think there's potential down the road to do even more research with this, because obviously we want to help every child with Skraban-Deardorff syndrome. So as much as we can do, we want to do it.
Emily Beauclair:Yeah, because actually you had made a comment earlier about this gene potentially helping make up for the bad copy of the gene, but there are some of the impacted kids right that have a deleted copy of the gene, right?
Cynthia Lang:You're right, yes, so I'll back up a little bit and talk about Sebastian.
Cynthia Lang:So Sebastian has what's called a haploinsufficiency, which essentially means he's got one good copy and then one copy that's not functioning right and you need two copies in order for the gene to work.
Cynthia Lang:So this particular drug, what it does is it's taking the good copy of the gene. So this particular drug, what it does is it's taking the good copy of the gene and in order for the gene to work right, both copies essentially work at 50% to equal 100% in total. So if you have one copy that isn't working, the other copy is only working at 50%. So what we've been doing with Transcripta Bio is can we take that 50% copy and express it even more so we get as close to the 100% as possible? That's what we've been doing and that's essentially what this drug has been proven to do. Now, if you have... and I'm not a scientist and please no one take this as confirmation of any of this... but theoretically, if you have a drug that would do that and overexpress a good copy, I would think, whether you have a deleted copy or not, if you have at least one good copy, this drug should make some impact.
Emily Beauclair:Well you're doing an amazing job at explaining all of the science and putting things into layman's terms and helping us understand why this research is so important and why it actually is helping our kids. And every dollar that we raise with our fundraising campaigns can go towards helping these kids in the future. I struggle because my kid is young as well right now, and they have plastic brains at the moment where these drugs have the possibility of breaking through and it's a very short period of time that that's going to last.
Cynthia Lang:Absolutely, and if we can get this to our kids within this window, it can literally be life changing. Emily, if I can, I want to go back to the point that you made earlier about not sharing the name of the drug. So we have no intention of gatekeeping and keeping this information from our community. It's the opposite. W e're so excited to share that when the time is right. The reason that we haven't shared it yet is just there's additional research that we're doing with the drug and this is a chemotherapy. T hat's a lot to think about. So we want to be responsible and make sure that we're ready to take that on when we share the name with the group. And that we have a plan. How are we going to give access to this drug to our community. It's an off-label drug. It's never been prescribed for Skraban-Deardorff Syndrome before and it's never been prescribed for a lifetime. So that's a lot of implications that we need to think of and understandably, we want to have a good plan in place before we get to that point.
Cynthia Lang:I will share Dr Deardorff has been involved in this research as our medical advisor and he's been a dream to work with and so crucial to this. And I think whatever plan that we devise in terms of clinical trials and studies that we do in order to distribute this across our SKDEAS community. A t some level I'm sure physicians are going to want to hear from Dr Deardorff or Dr Skraban tell me more about this condition. I'm not comfortable prescribing this drug for a condition I know really little about. So I think we need to figure out a way how do we get other prescribers comfortable and how do we give access to this information about Skraban-Deardorff to get us there. So it's a lot that we still need to work through, but I'm confident that we're going to get there.
Emily Beauclair:It took me forever to get approval just for ABA therapy, and you're talking about a chemotherapy drug, so I get it. It's going to take a lot of work to to make everybody understand why this is needed. Y ou might not know the answer to this yet, but do you think this is like six months down the road, a year, two years, that you'll have a plan?
Cynthia Lang:Um, I'm hoping that somewhere within six months we'll have something ready for the group. We live in Charlotte, North Carolina. The closest academic medical center to us is Duke, so we've involved them in this as well, and we're fortunate to have an academic center nearby that has done studies like this before, and we're also fortunate that one of their geneticists there is a former fellow of Dr Deardorff, so someone that he helped train and knows really well. So that was just serendipitous and just really lucky for us. So my hope is we can get started at least with a clinical trial here in North Carolina to get us started and then figure out how do we set up similar clinical trials in other areas of the country. That would give access to our broader community and do it in a way that's feasible.
Emily Beauclair:A lot of times I feel like the rare disease community is really tiny. And then you hear these stories where you know doctors are working across to help each other and you do remember that there are so many people that are impacted by rare disease that want to help each other. And this community is a lot bigger than I think it is. And even just with the Colin Farrell Foundation that's recently launched and given a lot more attention to Angelman Syndrome and more attention to what a lot of us parents go through and our fears on a daily basis. It's a sort of an exciting time to be in and, I think, very different than where I felt we were two years ago. Two years ago, I would tell you that I thought that the work that was being done would help the person behind Joe, the kids behind Joe, and this is one of those things where it's like now there's some hope that we can help our own kids.
Cynthia Lang:Absolutely, absolutely and obviously we want to help our own children as much as we can, and that was always our goal with you know, Sebastian, and, like I said, the dream would be if we could save our own kids and create this legacy for the kids that come behind them. W e could be the last generation of the worst outcomes of Skraban- Deardorff. Wouldn't that be incredible? And for us to be able to look back and say we did this together, we did this as a foundation, as a group, as families, as parents, and not only did we save our kids, we saved future generations.
Cynthia Lang:I want to shout that story from the rooftops and hopefully show other rare diseases as well. It isn't hopeless. Just because there's not a treatment today doesn't mean that there won't be a treatment and doesn't mean you can't impact your own child. So I'm so grateful to Transcripta Bio for everything that they've done for us. Because, like I mentioned, this wouldn't have been possible without them, not at this speed, and my plan is I will shout from the rooftops about all of this, about them, and to help spread the word to help other rare disease families as well.
Emily Beauclair:So obviously I'm emotional about this, but I'm very excited as well. Is there anything that our community can do to help aid in progressing this research?
Cynthia Lang:Obviously, fundraising is always helpful and I'm so proud of the work that I've seen the families doing with golf tournaments and the bartending events and, you know, facebook, birthday fundraising and all those things that different families have done. I want people to know that you did not do all that work for nothing and that helped to fund this research that will hopefully prove to be really impactful for our kids. So please continue doing that work, as I'm sure there'll be more opportunities for research down the road. And really, the other thing that I hope to see us do more of is just sharing our stories with each other. So we have families all over the globe who are working on different initiatives as they relate to SKDEAS.
Cynthia Lang:So, having this platform, emily, with you, and the podcast, having our Facebook group and the other platforms that we have. It's so important for us to share our stories so that we know what's going on, we can share discoveries with each other and figure out how do we implement this across where we are in different areas of the globe. So what we may discover in America, how do we use this in France and Italy and the other countries where we have SKDEAS children and vice versa. I was so happy to hear the report out from the Italy group and the things that they're working on there. So I would really love to see us continue to collaborate with each other, and I know that we're all working towards the same goal. H ow do we make our children's lives better? So I think by continuing to partner and continue to share our stories. That's how we're going to achieve that.
Emily Beauclair:I agree. You know that group in Italy is a small group of families impacted by Skraban- Deardorff. That really shows us the strength of this rare community that you know. They got together, they formed, you know, their own alliance to help aid everybody impacted by Skraban- Deardorff, help aid the overall foundation goals. And I really do need to get them on this podcast to talk about all the great things that they're doing, but also to remind everybody that this is a global disease and it does impact children and adults around the world. Sort of, on that note, our community does help each other by, you know, sharing these stories and sharing advice. So I have a question for you regarding where you are now versus two years ago. Is there anything that you would like your past self to know?
Cynthia Lang:Yeah, such a good question. So, like so many of us, when I first learned of this diagnosis, I was absolutely devastated. As many of us were told. I was told there's nothing that could be done to accept the fact that my son would never graduate from high school, he would never live independently, and to just take him home and love him. A nd for me, I simply couldn't do that. The truth is, no one knows what our children are capable of, and you can't give up before you even try. Science is advancing every day, but we're in the difficult position, as rare disease caregivers, to advocate for our loved ones and blaze this path on our own, as without us it's not going to happen. I'm so grateful to Dr Deardorff and Dr Scraban, who have been our physician champions throughout this journey, and they've done so much for this community. I want people to know that not every rare disease has physician champions like this. So we're very fortunate to have that.
Cynthia Lang:So I would tell my past self keep fighting, don't give up. Our kids are counting on us. We can't give up. This will always be worth it for them, and I hope that one day we're able to celebrate that we have a new treatment in hand and that we did this. We were the ones who did this for our kids. I'll be so proud of that day when we can look back and show that. But it' s worth every, every drop of sweat equity, everything that we put into this. We're going to get back and I have faith in that. So I'm I would just tell myself keep going, it's all going to be worth it.
Emily Beauclair:I love that and thank you so much for coming back and sharing your story and sharing an update of all the great research that's happening with Transcripta Bio and the Foundation and all the amazing things that are happening for our kids. It's really, it's really exciting. So, before you go, is there anything else that you would like to share?
Cynthia Lang:Yeah, I just want to say we hope to have some more news coming to the group soon, so stay tuned. As I mentioned, as much as we can share as soon as possible, we plan on doing that. I t's really exciting news, very exciting discovery, and hope to have some more very soon. We appreciate everyone's cooperation and willingness to be open to this and we'll see what we are able to do for our kids.
Emily Beauclair:Thanks for listening. I hope you found today's discussion helpful in your rare journey. If there are any other topics you want me to discuss, questions you have for some guests, or if you want to be a guest in the show yourself, please reach out to me via the email included in the show description. Included in the show description. Please also visit skdeas. org to learn more about Skraban-Deardorff and consider making a donation to help fund research to help our kids. Talk soon.
