Hello I'm Stan Crooke founder chairman and CEO of n-lorem. Welcome to the n-lorem podcast series. This is a podcast series that focuses solely exclusively on the needs of nano rare patients, that is patients that have a unique mutation that affects only them, or are a member of a tiny group of patients of less than 30 worldwide. Today, I'm privileged to have two guests. Luke Rosen is a parent of one of our patients. His seven year old daughter Susannah. Luke has had
three successful careers. He is an actor whom you have probably seen in shows like Law and Order and Orange is the new black and you know a number of other movies and media. And then when he learned that Susannah was ill due to a rare genetic disease, he founded a patient advocacy group which he continues to lead. And in the process of learning about Susannah's disease, he became such an expert that he was asked to be vice president of patient engagement at Ovid Therapeutics.
Recently, however, he's taken a leave of absence from Ovid, to focus exclusively on Susanna his family and his foundation. Our second guest is Dr. Wendy Chung. Dr. Chung is is the Kennedy family Professor of Pediatrics at Columbia University Medical Center, where she wears a large number of other hats such as a precision medicine resource leader in the Irving Institute, Chief of Clinical Genetics and many other roles. Wendy received her MD, degree from Cornell University Medical School and
her PhD in genetics from Rockefeller University. She is a renowned a genetics scientist, and a medical geneticists and is unusual in the breadth of diseases that and patients that she's dealt with, but has a significant focus on neurological diseases and in particular autism spectrum. She has contributed groundbreaking genetics research and continues to care for many patients. She has won numerous awards, and she is consistently recognized as as an outstanding educator, and for
her commitment to medical and graduate education. Welcome to both of you. Thanks. It's great to have you. So Luke, I'm going to begin with you. What Why don't you tell us about life? Before you had Susanna, Susannah?
Thanks, Stan. And then thanks for having me here. It's a real pleasure. Before Susannah was was Nat our 10 year old son now who was was three one, Susannah was born. So it was very, you know, that feeling of being a new new parent and running all over the place and not being certain if you're doing things right or, or wrong. And I traveled a lot more than I do now. And so, I was, like you said I was an actor for about 20 years. And we had a very nice, you know, sort of life on the
west side of Manhattan. And we had playgroups and you know, we were that. We were very fortunate to have that. And then of course very fortunate to have Susanna. And yeah, that's before before it was kind of kind of normal. It was the old normal. We like to call it because we have a new normal now but the old normal.
How did you and your wife Sally meet?
So we met in college. We both went to school in Connecticut. We met at Connecticut College and she was dating a good friend of mine
anymore. One of those a? Yeah. And is she a performer two or we're doing those other things or
Sally is an incredible, incredible actress. She's wonderful, but she doesn't care to admit it herself. She Sally Sally writes cookbooks and isn't incredible in the kitchen. And then that's yeah, Sally is a as a wonderful writer, and she's since slowed work down a lot. She cares. You know, both of us care for Suzannah, pretty much full time but Sally is the is the person who keeps the engine running in our house for sure.
So now we're going to be talking about topics that are deeply personal and deeply painful, I'm sure and so Luke, I very much appreciate your willingness to, to share all that with us and and I fully expect to cry somewhere during this interview. And that is exactly as it should be. Our hearts should go out to people who are dealing with issues, particularly issues that affect their young children. So a Luke
what happened? You know, how did your life change after Susannah, you've already begun to tell us that, but I'd really be interested in how you learned when you first began to worry that you there might be something wrong. What, what what you had to go through to get a diagnosis and, and then you know, what, what, what you learned about the diagnosis and how you how you proceeded from there?
Yeah, it was a very, I say this. I've said this before, and parents know that if parents have more than one child, you know, for the first kid with Nat, I feel like I always say this to Wendy. But with NET, with Nat if he had, you know, a little rash, we would panic and run to the emergency room or something. Not quite. But with our second with Susannah, you know, it was kind of like, Oh, she's on her own
timeline, you know, she'll, she'll get there. But we started noticing, there were a couple of different moments where we noticed that things were really, really not going in the right direction. And it was Sally actually in the had Susannah in the bathtub. And we used to do this thing where we would say to the kids, when they were in the bath when they were babies, you know, kick kick, kick, kick, kick, and we made a little song of it, kick, kick, kick, and Susannah just couldn't kick, she
couldn't move her legs up like that. And Sally said, I think something's really wrong. And so that's when we went to, you know, first our pediatrician, and then our neurologist. And it became really clear that there was something significantly wrong with her health. And the neurologist at the time told us that we should, you know, they were just very stumped. We did a lot of tests, MRIs, EGS, everything. And the neurologist
said that we should get genetic testing. And if Sally doesn't like me saying this, but if you're over a certain age, and we were we lived in Parliament at the time, so we the kids were born at Columbia. And, you know, Columbia is where we went when someone fell and got stitches. But if you're over a certain age, when you're having a baby at Columbia, it's a geriatric would do they call it a geriatric pregnancy or something. And it part of it is that you have to get a certain
amount of genetic testing done. Very minimal. I now know. But so I thought when the neurologist, I said, Oh, we've already done that, but I didn't have a science background or don't have a science background. We've already done that. We've we've had the genetic testing, but they said no, there's a more extensive way to do it, you have to enroll in this research
study. And so one night, we were in the hospital, and for a couple of couple of nights for something that was going on Susannah, and someone came in and we enrolled in the research study, and quite some time went by until we finally were able to hear that she had a mutation in this gene kiff one A, and we didn't know what that meant, at all. There was a moment when I was walking with her up Amsterdam Avenue, and she had
she had very low muscle tone as a baby. But her legs shot up like planks and were stiff and she was scared and crying and, and that was the real moment where I thought something's horribly wrong. And so Sally and I, after we heard the diagnosis, kit, one A, we didn't know it was accompanied by a few research papers that did exist. And they were very scary papers
to have. They said things like early death and brain atrophy and just these words that were really hard to digest and I I got this information before Sally did because I, you know, and so I came home and I, I had this window of time where I, I knew, but Sally didn't know. And I wanted that window of time. So to keep going, because I knew that what I was just going to have to say to Sally and tell her what I just found out and show her these papers was going to be. And it was quite
literally heartbreaking. And then we started researching. We didn't know anything about this. So we started doing our own research and somebody said, You need to find Wendy Chung.
Luke, how old was Susannah, when you first began to suspect there was a problem.
Susannah was three, four months old when we saw something was just a little off, but not nothing that was incredibly concerning until she was about one one and a half now.
And then so how long was it before? You found your way to understanding that she had this unique mutation in this in this gene you knew nothing about?
How long was it from when we
when you first went to your pediatrician to
Oh, yes, I know what you mean now. So unfortunately, when you... it took a long time, it took about three months for us to get the results back from and that was because we, we, if we could do it all over again, I would have, you know, asked our doctor at the time to just prescribe our order us the test. Instead being part of the research study that we were in, that took significantly longer than it would have otherwise. So we were we had that those three months were really difficult because we
were just waiting. And we didn't know if we were ever going to find out what was wrong with her. Every doctor we went to told us they had no idea really what was going on naked talk about the specific parts of her body, you know, well, an ophthalmologist would tell us that her I was moving one way because of one reason. And then a neurologist would say, you know, she's having these, this activity in her brain for one reason, but then no one can ever give us an exact really, this is
what is wrong. So that was about three months of, of not knowing anything and being really scared.
Yeah, three months of terror and and then watching your little child go to terrifying things like MRIs and all that.
Yeah. You know what people forget to tell that someone forgot to tell us when Suzannah was getting her first MRI that after as, as she was getting sedated. The baby shake a little bit. And the person who was doing that for us tell us that. And and as Suzannahs eyes were closing, I remember thinking, gosh, I don't want the last thing she sees before she goes under to see me crying, because I was getting it was scary to see that. But I know it's normal.
And I'm sure you know now that you actually had a remarkable ly short period, the average time according to the UDN data, the Undiagnosed Disease Network, data too for a rare one of these kinds of diseases to be identified and genetically characterized as something like eight years, and of course, the vast majority of patients are are never diagnosed. And so you learned that she had this mutation and, and in a gene you didn't know about and and you found some
papers that told you that things were bad. And so how did how did your son handle all that?
Well, that had he was you know, he was four and he we tried to prep. We were very honest in our family in our house, but there are certain things that we wanted to protect him from. And he he's an incredible, incredible person. So he handled it in a way that was this is just my sister. This is how she gets around. This is how she you know looks So this
is how she acts. But then there were some really scary times where he had to see some things that there still are every month, you know, he sees things that are very difficult that kids shouldn't see, and a, but he handles things, but he's, he's 10 going on 60
How Susannah doing today?
Today she is, today, she's, she's actually today is a really good day, she doesn't usually make it through an entire day of school, we'll get a call from her aide or her para, who spends a one on one aide spends a day with her mom will get a call that she's either had a seizure or, or a bad fall or something or she's just, you know, not engaging with anybody and she's staring off in the teachers can't get her back to you know, back. Back...
She has she'll she has seizures and she has muscle control and muscle weakness problems and, and attention challenges and, and does she is she having some developmental delays as well as result of all these problems?
Oh, yeah, absolutely, Susannah is a, she's now started, she doesn't she, she could walk several steps just a matter of months ago, but now she started crawling instead of walking, and she spends most of her time in her wheelchair. But she is does have, yeah, her her cognition is certainly not that of a seven year old. You know, but she's, she smiles a lot. And she's very happy even when we know she's in pain. She's incredible.
She's beautiful. And, you know, that's her life. Yeah, it shouldn't be but it is. And so you got to work like parents often do in trying to understand what was going on with Susannah. And I would have to guess that you felt lost the vocabulary was basically impossible to understand. And as you learn more, you got more and more terrified, huh?
Absolutely! It was a, yeah, then the not knowing, and still right now, every all the just not knowing what tomorrow is going to be like for Susannah is really hard because she, every day is kind of an improv, right? She's, if she has one night where she's, she has nocturnal epilepsy more than epilepsy during the day. I mean, she has both but if she has a night that's filled with seizure activity, then we know her day is going to be really hard for her, you know. So she, her her
she's very spastic now in her or her lower limbs. She also has a neuropathies in her her hands and her feet. So she will, a, she has a lot of pain in her hands, and she'll wake up in her own way. And she, Susannah has has words she's she can express herself in our own way, she'll tell us that it feels like her. Her hands are burning on the inside. And that's hard to hard to have a kid wake up and yeah.
So you meet Wendy and, and and you have a diagnosis, and my guess is that your first question after that was is there any treatment?
Yeah, well, we we met Wendy because somebody had told us that Wendy was the person who could articulate this and tell us what was happening and maybe care for Susannah. And so I emailed Wendy and she emailed me back within minutes and asked if Sally and I wanted to come in to her office, and she could explain the implications of what kiff one a was meant. And so we did it early in the morning, we went to
Wendy's office at Columbia. And we I talked about this a lot and we were mentioning the elevator ride up there was Sally and I were really, really anxious, of course, and Susannah wasn't with us. And so it was one of the first times that we were in the hospital without Susannah. And we had this, you know, a moment where we were are alone and got to spend time together. But it was, because that doesn't happen, you know, somebody has
to be with Susannah 24 hours a day, all the time. And then when and when the elevator did open, and this is I remember this just so clearly the people who were there, you know, there was a genetic counselor and a social worker, and the nurse practitioner. And Sally, and I knew that, you know, we were about to hear something that needed an army of people to help
us with. And we went into into this smaller room near Wendy's office and, and Wendy came in and told us and just very clearly, and with this, this empathy that is really rare. What to expect and that, you know, there's not much known we could find maybe 15 people in the world that had a mutation in KIF1A and nobody with Suzannah's at the time. And that, Susannah, that it was a neurodegenerative disease, likely with a
progressive course. You know, she would probably have trouble seeing was she does she has vision problems should probably be in the chair. It was really we were, that was a hard conversation. I can't imagine ever having that again. But it
was, it was a it was a lot of crying. And I, you mentioned my son Nat and this is the moment, of all of this about Susannah's health and about this, this diagnosis, and when Wendy was telling us what to, you know, what it was, the moment I remember most, and is the hardest thing was, I said in the middle of the conversation, how are we going to tell them Nat?
How are we going to tell Susannah's brother about this, how do you tell the kid this, and when the, sorry, and Wendy looked at me and said he's going to be a remarkable young man one day. So for some reason, that's what I remember most about this, this moment of finding out this devastating disease that Sally had was or that Susannah has was trying to figure out how I was going to explain it to my son. And then, Wendy walked us out of the hospital. And you know, it wasn't just, here's the
diagnosis, good luck. It was, you know, she walked us downstairs, through the building, out into it, even right when we got into the taxi, and there was a hug, and then and I'll see you soon. And so we felt like we had this support that I now know, not many people have.
Oh, and that's sadly very true. Luke, I want to move to Wendy, ut I do want to ask one last last question. n-lorem what does it mean to you and your family, that Suzannah's is application was accepted by n-lorem as a potential for treatment?
Yeah, that's another moment that I'll never forget is when Wendy was able to tell us that the to to it means everything, Stan, to that there's people are fighting for treatment for her and that is actually going to hopefully become a reality and that we might be able to change the
course of Suzannah's life. It's really hard. It's hard to watch Suzannah's has life right now, and to think that there's going to be a you know, there could be a treatment for her that would not make it as severe, not make life so hard for for her has just beyond measure words can't describe it. It's hard to it means everything to us, Everything!
And you're sophisticated enough to know that there are no promises of any sort that anybody could make at this stage. So it's, it's hope and hope for help is I suppose is the way to think of it.
It's yeah, absolutely! We are so, the desperatio is teaming throughout our lives in our house, and yeah, it's it's a hope for something that we didn't think would ever be there, and it is so, yeah.
Yeah, you know, just the hopelessness and isolation of patients that that we are trying to help is is detrimental to health. Hopelessness is bad for health and helplessness is terrible.
That's really well said it is. It is grinding and that, that hopelessness is is we're so thankful.
Yeah, well, we at n-lorem feel privileged to have Susannah as a patient and to work with Wendy. And, you know, we'll keep our fingers crossed and do our level best and we'll all work together for Susannah. And I would say that I think every patient should experience the care that Wendy displayed. And sadly, I think you're right, Luke that in far too few times is that the case. So you are very fortunate in many, many ways, in the midst of, you know, a tragic
situation. So Wendy, I'm going to turn to you now. And we'll try to brighten up the conversation here, maybe. So, I, know, your background, and of course, I've admired your work, but, I'm intrigued by how you do it. How do you, how do you manage every day? Well, talk about clinic day, I guess, how do you manage seeing so many patients who are in a position similar to Susannah?
Well, number one is I'm the one who's on the screen, but there's an army of people behind me. That's the real magic to all of this. And so we have a caring team, Luke mentioned, you know, our genetic counselors, or nurse practitioners our social workers. But, even beyond that, we've gotten an army of scientists, computational biologists, bench scientists, neuroscientists, both here and around the world who are all fighting for Suzannah and all of
Suzannah's friends. So as we do that, you know, I think we've learned, it's taken me in some cases, 25 years, how to figure out some of the things that I do. But as we've done it, we've tried to scale ways to do it and put everyone to work. And so even though the team that I mentioned are, you know, paid people on my team, the rest of our team is actually our families. So families like Luke and and I want to give Luke a
lot of credit. He has mobilized a very powerful community of families behind him, and it's together that we get these things done. And as we do this, we all have a role to play, and we all take feedback, and we iterate and we get better and
better as time goes on. And we have partners like n-lorem, which I can't I mean, I'm really good at some of the things that I do, but I can't do what you guys do, and together, it's the dynamic, not just duo but dynamic, I don't know what a million people is, but it's a lot of us all working together. And the hope is that although you know what we're doing for Susannah is important exactly for Susannah. The lessons that we're learning for Susannah, I'm convinced scale beyond Susannah.
And so it's how can we do this, not just for Susannah, but Susannah has friends and KIF1A other 500 or so neuro genetic conditions that I think about the 7000 other rare genetic diseases that we know about plus the others, we're just
discovering. I think those are really the incredible opportunities, but it's tough, because right now, you know, Susannah is one of very few individuals with exactly her genetic change, and we need to target her genetic change in this case, and so she really is more than one in a million, you know, probably one in 50 million, but that doesn't mean we leave her behind.
It doesn't mean that at all. And you know, I think I think you handle these things as, as I handle them and as Luke and and parents and and patients do and that is you find ways to take control of what you can control and find ways to accept those things that you can't you can't control otherwise, otherwise the process is too destructive. I imagine that rings pretty true to you, Luke.
Yeah, it does. It's it's it's pretty hard not to be able to control the outcome of the day or just didn't you know what is happening next and, and that loss of control and lack of direction or spotting the spontaneous things that happen in life or It's really hard. But like Wendy said, we have this, you know, community of people who are just so supportive. And yeah, it's it's a lot there was one. Wendy has been kind enough to invite us to speak once in a while to every year to her
medical students. And this year was, was pretty awesome. Because it fell on a voting day. So the kids in that school, so not and Suzannah came to. And I never want Nat to know what the word degenerative means, although he's getting old enough to see that things are getting changing with her sister button or his sister, but I had told Susannah, I wanted to prep her for what
was happening. And I said, they'll, you know, there'll be a microphone that one of us will have, and Wendy brought, pushed Suzannah's wheelchair and, and Susannah came and took the microphone and, and she sang a part of the song from Frozen. And it was in front of, you know, I don't know how many students were in there, but you know, seemed like a lot. And she had this...
auditorium full of 200 students all watching Suzannah perform.
She's from a family are performers. So naturally, she's going to be a star.
Yeah, but yes, she is. And but but seeing, seeing her do that is not something and I never sell her short. I know she can do anything she wants to do. But there are things where, you know, you think about am I ever gonna get to see my daughter do dot dot dot. And as I was sitting there watching her even though we were talking to these medical school students, I, I, somebody said, Did you take a picture? Or did you
record it? I said, No, I just lived it, I got to see my daughter sing a song to a big audience, but that was another great gift. So thank you Wendy.
Wendy, why don't you tell us about the the gene, KIF1, and what what it does, what the protein does and why Susannah is sick.
So Susannah has a genetic variant. It started brand new with her. It wasn't inherited from either Luke or his wife, Sally, and the gene itself is a kinesin, and it's a molecular motor. So it's responsible for taking things down these very long exons are these very long projections out of neurons that go all the way from her head and the neurons in her head, but also the ones that go through her spinal cord and
go down her legs to her toes and out to her fingertips. Those very long, if you think about it, the length, you have to go from your head all the way down to your big toe, it's a long way to go. And so those motors are responsible for going a long, long way. And with this Susannah's motor doesn't work very well. It has trouble in terms of if you think about a train, sometimes it gets stalls on the tracks, it gets stuck and there's a traffic jam. Sometimes it falls off of the of the
tracks, and you know, it sort of loses its way in that way. And with that, without being able to deliver the cargo of those trains, those cells die. They die over time. And once they're gone. I can't say for 100% sure, but I'm 99% sure they're not coming back. And so as Luke described this, this is unfortunately a one way street and the Luke and the families have a very obvious hashtag when you think about it, hashtag stop the clock, because that's what we think about in terms of time
is ticking. And once we start, you know, losing some of those cells, they don't come back. Suzannah has this neuropathy or this painful feeling that she has the burning...Suzannah describes it and some of the older patients have described it for me as well. It's a burning sensation that really hurts I mean, like deeply hurts in terms of your hands and your feet, and just feeling tight feeling like you can't really relax or let go. And with that, it's just it's a painful, uncomfortable
feeling. And we try medications we see at try some of the same medications we use for other patients who have what we call neuropathy. These are these problems with their nerve cells, but it never really completely goes away and at times, it gets worse than other times. So that's part of it. But we've literally and I know this is hard for you to hear Luke so I'm sorry about this, but we literally see Susannah losing cells over time, we can image her brain. We can that MRI that
Luke described we can look at her brain. We can see part parts of her brain that are shrinking, we're losing those cells and, and they're dying off, we can look in her eyes, we can see her optic nerve going to her eye, we can see those cells dying off,
Is she is she losing sight then?
Yep, she's losing sight. And it's so hard for Sus, I mean, she's such she really is my heroine, but it's so hard for her because she's got so many things battling against her. She has trouble with this fastest city being able to move, but she wants to be a kid, right? She wants to just play and have fun. And you can imagine sometimes, because she's not seeing things out of this, you know, corners of her eyes are seeing them
clearly enough. Plus, she has trouble in terms of moving and she has trouble with her balance, she falls a lot more than other kids do. And sometimes when she falls, she doesn't know what she's gonna fall into. And so it's just hard. Suzannah has broken bones, more bones than her collarbone her arm. And, you know, when she breaks a bone, it's so hard for her because then she's immobilized, and it makes it
that much harder for her to get back to where she was. And so she has these, you know, it's sort of declining, but then, you know, it's almost like a big step down. And she's got to work, work work to just try and get anywhere close to where she was. But it's hard. Within that there's also been this other major major problem, which is that in terms of in her head, she's just got an electrical storm, the seizures, in other words that are going on. And again, I don't I hate doing this
to you, Luke. So but it's it, this is no joke. We've had, we have just an incredible community, but we've lost so many of our children to this disease. And we've lost them due to some of these seizures, in some cases, unexpectedly. And I know that's what scares us to death is. And I know, Luke and Sally are just, if you can imagine, I don't think they've gotten a good night's sleep. You know, since Susannah was probably, I don't know, two and a half, three years old.
Because, we didn't we've have actives that we've lost to seizures in the middle of the night. And so literally, Luke and Sally, one of them is sleeping with Susannah. Some cases, Luke mentioned Nat, Nat's had even occasion to be the big brother in terms of sort of being the angel watching over
Sus as she's sleeping. And in some cases, having a seizure or throwing up or having something caught and having to literally be able to make sure that she doesn't choke on her own vomit or that she doesn't have a seizure that she doesn't wake up from. And it scares us because we've had kids that we've lost that way. As Susannah goes through this, as Luke said, you know, we haven't we, we've tried just any number of medications for Susannah seizures, and she's on a cocktail of medications.
It's not just one, but it's a cocktail. And it changes. It's not like you get it and you find the right mixture, and you're good to go. It's like you might be good to go for a few months. And then it's all over again, trying to figure out what this is, and making it so that she's not a zombie, because, you know, there's some of these medications that are sedating. And then she's just out of it. And that's not a life, you know, you want her to be a kid. But you also don't want to lose her
or have her so that she's having so many. We call them postictal periods but times after a big seizure that she's just out of it for that reason. So it's just, I can't tell you, it's a hard life. Susannah has many I think of them as angels watching over her besides her family. She's got her service dog Pippin, who is just it's amazing. I mean, Pippin is a great for, I think, a great therapy dog for Sus general. But
she's got her aide, she's got a teacher, she's got therapists. I mean, it literally takes an army, that even still, there is a team hovering over Susannah 24/7 I kid you not it really is 24/7 to be able to keep her safe. And I have to say though, on the other hand, Susannah is just a joy. I mean, it is a joy to see the things when she gets to eat an ice cream sundae or celebrate her birthday or be able to go, you know, it's ice
skating. But it's Suzannah's form of ice skating at this time in terms of being able to go to the beach and just enjoy looking for shells or playing hockey or doing a car wash. I mean, it's just I feel like I'm even though I don't get to spend as much time with Susannah under COVID I get so many pictures and videos that I get to be a part of the extended famil, but it's just, it's that joy that it motivates me and my team to do what we do
every day. Because it's it's allowing kids like Susannah to live their riches fullest lives and we want to make them actually have those lives. That's the painful part every time we see or take a step back.
Why don't you spend just a minute on how we hope to treat Suzannah and why you think it might work.
Yeah. So as I was talking about Susannah, and these trains going down the train tracks. Susannah has one version of the gene that's perfectly fine. Those trains I think run on time they run on schedule, but she's got another copy of the train Um, that is clogging things up. It's, it's
making a traffic jam, it's causing problems. And so essentially what we need to do ironically, is get rid of one of her genes, be able to get that train out of the way, let the traffic flow and be able to maintain the health of those
nerve cells. That's a tough order. We don't have you know, a medication, I can't just say, you know, take two aspirin and call me in the morning, I don't even have something like the seizure medications, there's nothing we know of currently in terms of just a regular pill that you can take for Susannah to either treat the symptoms effectively or to get at the
root cause of the disease. And that we know that if we don't do something to get at the root cause, she will continue to go downhill with this, the sort of just to put it in simplistic terms, the ASO that n-lorem is developing is going to be able to suppress or to be able to prevent that bad KIF1A from being made, or at least decrease it to such a low level that it's not going to cause the mischief that it's causing. It's a tall
order. And I want to emphasize this is like this is not a trivial thing to do, because we have to get rid of that the bad KIF1A while maintaining the good KIF1A, because we need those trains to still keep going down the train tracks. We've got a team of people n-lorem. And I do have to say, a lot of my confidence is built in my history with dealing with another rare disease community called Spinal Muscular Atrophy.
And so a lot of the playbook that we've taken for KIF1A is built on the antecedent about 12 years that we had experience with SMA. And that same strategy worked in terms of Stan, you should take a lot of credit for this one. Because for this with SMA this was our first FDA approved treatment for SMA. And I can't tell you how many children I buried with SMA
before we had the ASO treatment that we had with that. And so it was that inspiration that really convinced me that we had a chance with KIF1A and I don't have to guarantee but we've got
a chance in terms of going forward. And it's with that, that I really do think the strategy should work scientifically, it makes sense, Stan and all of the other scientists that n-lorem have just an incredible insight to the chemistry of how this works and to be able to design what are very, very specific molecules to be able to do this without being toxic without doing any damage. And to fine
tune this and just the exact way that we need. And they've been so incredibly generous, to literally donate all of that incredible experience and knowledge in the direction of children like Susannah. And there's I can tell you I know a lot of things I don't know this, I don't know this chemistry, this isn't something that any scientist like any one of us could do just by thinking hard enough, or, you know, sort of working enough of it really takes the decades of experience
that Stan and his team have. And it's us working together with KIF1A.org with the other families, in terms of all making this work, and I'm convinced we're on the right road.
I am too and and, and being involved with Spinraza, our drug for Spinal Muscular Atrophy was one of the many high points and in my long career, but what we're doing at n-lorem is even more gratifying to those of us who are doing it and and so, you know, the one thing that we have going for us with these nano rare diseases is they're all genetic. And, and so once we understand the mutation, we have a potential target. And
now with with ASOs, we have genetic medicines. And so we can take that information directly and translate it to a medicine that we can use to treat a patient like Susannah. And, you know, to try to do that in 12 to 15 months start to finish is a real challenge and especially in these more complex mutations where we have to be very specific for one form of one out one part of the two part gene system. So it's challenging, but I think the technology is up to it and and I also believe that
it has to be scalable. And if we take a commitment, make a commitment to a patient, we have to be ready to treat that patient for life. And we are and we can do that we can do it for free. And we are so again, Luke and Wendy. It's just a great privilege to know both of you. And I want to thank you for sharing all this with this. Before we close I Luke any any final comment that you want to make?
Yeah, I you know, I just thought of about three years ago I took this video of our son Nat, Susannah was in her chair and Nat was teaching Susannah how to throw a coin into a, you know, into into a water to make a wish. And he explained it, you know, you have to throw it this way, and then you make a wish, but don't tell anybody what that wish is. And then she through it, and it got in there. And I emailed that
video to Wendy. I said, look at this Nat sending, you know, teaching Susannah how to make a wish, and Wendy just wrote back one sentence, and that sentence was, "I know what my wish is", and it's my wish too, and Stan and your whole team, I think, you know, you're you're working so hard to make a wish come true, so thank you.
Wendy, any final comment?
Now, just to say that it's not easy. I know, it's not easy for Luke and Susannah, and Sally and Nat every single day and we're there behind you. There are different things that we do to support Susannah, and together we're really powerful team and I know we're going to be able to get to something better.
Well, let me I can't think of a better way to close this. We are all in pursuit of something better. Children should not suffer! And so, we will do our best. So I want to thank both of you very much. It's been a wonderful privilege to have you share all this with us. And and and and I'm sure we'll have we'll have more opportunities to talk in the future and I look forward to them being much more positive.
So do I.
Does genetics facinate you? Of course it does! You're listening to this podcast, discover new advances in the world of genetics with DNA today Podcast. I'm Kira Dineen. I'm one of the producers of the n-lorem Patient Engagement Program podcast. And I'm also the host and producer of DNA today podcast I use my expertise in genetics to help you understand the complexities through interviews with leaders in the field, including the host of this podcast, Dr. Stan Crooke
he was on episode 141. DNA today explores genetic technologies like home DNA kits, CRISPR, groundbreaking research, and rare diseases. For decade DNA today is brought you the voices of genetic pioneers. There's over 185 episodes, so plenty to keep you entertained and updated about genetic news. The show is a fan favorite winning the People's Choice best science and
medicine podcast award for the past two years. Learn more at DNApodcast.com and subscribe rate and review on Spotify, Apple podcasts, Google podcasts or wherever you're listening to this podcast. Discover new advances in the world of genetics with DNA Today Podcast.
n-lorem is a nonprofit committed to discovering and providing personalized experimental treatments for free for life to patients with genetic diseases that affect one to 30 patients worldwide, referred to by n-lorem as nano rare. Many of these patients progress and die without ever achieving a diagnosis. This is where n-lorem comes in. They do the impossible by providing hope and for those that they can help free lifetime treatment. For more information about n-lorem
or today's episode, visit n nlorem.org. Any questions can be sent into podcast@nlorem.org search n-lorem on Twitter, Instagram, YouTube, LinkedIn and Facebook to connect with us. Please rate and review the podcast on Apple, Spotify, or wherever you listen. This truly helps us climb the charts and allows others to find the show. This podcast is hosted by Dr. Stan Crooke. Our videographer is John Magnussen of Mighty One productions. Our producers are John Magnuson and Kira Dineen of
DNA today. Thank you for listening